TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Identifieur interne : 002669 ( Ncbi/Merge ); précédent : 002668; suivant : 002670TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Auteurs : Miriam Schmidts [Royaume-Uni, Pays-Bas, Allemagne] ; Yuqing Hou [États-Unis] ; Claudio R. Cortés [Australie] ; Dorus A. Mans [Pays-Bas] ; Celine Huber [France] ; Karsten Boldt [Allemagne] ; Mitali Patel [Royaume-Uni] ; Jeroen Van Reeuwijk [Pays-Bas] ; Jean-Marc Plaza [France] ; Sylvia E. C. Van Beersum [Pays-Bas] ; Zhi Min Yap [Royaume-Uni] ; Stef J. F. Letteboer [Pays-Bas] ; S. Paige Taylor [États-Unis] ; Warren Herridge [Royaume-Uni] ; Colin A. Johnson [Royaume-Uni] ; Peter J. Scambler [Royaume-Uni] ; Marius Ueffing [Allemagne] ; Hulya Kayserili [Turquie] ; Deborah Krakow [États-Unis] ; Stephen M. King [États-Unis] ; Philip L. Beales [Royaume-Uni] ; Lihadh Al-Gazali [Émirats arabes unis] ; Carol Wicking [Australie] ; Valerie Cormier-Daire [France] ; Ronald Roepman [Pays-Bas] ; Hannah M. Mitchison [Royaume-Uni] ; George B. Witman [États-Unis]Source :
- Nature Communications [ 2041-1723 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Dynéines, Syndrome d'Ellis-van Creveld.
- physiologie : Flagelles.
- Animaux, Cellules HEK293, Chlamydomonas reinhardtii, Danio zébré, Humains, Mutation, Pénétrance, Souris, Techniques de knock-down de gènes.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Dyneins.
- genetics : Ellis-Van Creveld Syndrome.
- physiology : Flagella.
- Animals, Chlamydomonas reinhardtii, Gene Knockdown Techniques, HEK293 Cells, Humans, Mice, Mutation, Penetrance, Zebrafish.
Abstract
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify
Url:
DOI: 10.1038/ncomms8074
PubMed: 26044572
PubMed Central: 4468853
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PMC:4468853Le document en format XML
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Paige Taylor</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A." last="Johnson">Colin A. Johnson</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name><affiliation wicri:level="1"><nlm:aff id="a12"><institution>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="a13"><institution>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University</institution>, 34093 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a14"><institution>Medical Genetics Department, Koc University School of Medicine</institution>, 34010 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M." last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:aff id="a15"><institution>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center</institution>, Farmington, Connecticut 06030,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a16"><institution>Centre for Translational Genomics-GOSgene, UCL Institute of Child Health</institution>, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="a17"><institution>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University</institution>, PO Box 17666, Al Ain,<country>United Arab Emirates</country></nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B." last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26044572</idno><idno type="pmc">4468853</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468853</idno><idno type="RBID">PMC:4468853</idno><idno type="doi">10.1038/ncomms8074</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000742</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000742</idno><idno type="wicri:Area/Pmc/Curation">000741</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000741</idno><idno type="wicri:Area/Pmc/Checkpoint">001239</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001239</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">002D10</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002D10</idno><idno type="wicri:Area/PubMed/Curation">002C35</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002C35</idno><idno type="wicri:Area/PubMed/Checkpoint">002C35</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002C35</idno><idno type="wicri:Area/Ncbi/Merge">002669</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>TCTEX1D2</italic> mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport</title><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a4"><institution>Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg</institution>, Mathildenstrasse 1, 79112 Freiburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hou, Yuqing" sort="Hou, Yuqing" uniqKey="Hou Y" first="Yuqing" last="Hou">Yuqing Hou</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cortes, Claudio R" sort="Cortes, Claudio R" uniqKey="Cortes C" first="Claudio R." last="Cortés">Claudio R. Cortés</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mans, Dorus A" sort="Mans, Dorus A" uniqKey="Mans D" first="Dorus A." last="Mans">Dorus A. Mans</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Boldt, Karsten" sort="Boldt, Karsten" uniqKey="Boldt K" first="Karsten" last="Boldt">Karsten Boldt</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Patel, Mitali" sort="Patel, Mitali" uniqKey="Patel M" first="Mitali" last="Patel">Mitali Patel</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Plaza, Jean Marc" sort="Plaza, Jean Marc" uniqKey="Plaza J" first="Jean-Marc" last="Plaza">Jean-Marc Plaza</name><affiliation wicri:level="1"><nlm:aff id="a9"><institution>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Beersum, Sylvia E C" sort="Van Beersum, Sylvia E C" uniqKey="Van Beersum S" first="Sylvia E. C." last="Van Beersum">Sylvia E. C. Van Beersum</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Yap, Zhi Min" sort="Yap, Zhi Min" uniqKey="Yap Z" first="Zhi Min" last="Yap">Zhi Min Yap</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Letteboer, Stef J F" sort="Letteboer, Stef J F" uniqKey="Letteboer S" first="Stef J. F." last="Letteboer">Stef J. F. Letteboer</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Taylor, S Paige" sort="Taylor, S Paige" uniqKey="Taylor S" first="S. Paige" last="Taylor">S. Paige Taylor</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A." last="Johnson">Colin A. Johnson</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name><affiliation wicri:level="1"><nlm:aff id="a12"><institution>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="a13"><institution>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University</institution>, 34093 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a14"><institution>Medical Genetics Department, Koc University School of Medicine</institution>, 34010 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M." last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:aff id="a15"><institution>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center</institution>, Farmington, Connecticut 06030,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a16"><institution>Centre for Translational Genomics-GOSgene, UCL Institute of Child Health</institution>, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="a17"><institution>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University</institution>, PO Box 17666, Al Ain,<country>United Arab Emirates</country></nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B." last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature Communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Chlamydomonas reinhardtii</term><term>Dyneins (genetics)</term><term>Ellis-Van Creveld Syndrome (genetics)</term><term>Flagella (physiology)</term><term>Gene Knockdown Techniques</term><term>HEK293 Cells</term><term>Humans</term><term>Mice</term><term>Mutation</term><term>Penetrance</term><term>Zebrafish</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Cellules HEK293</term><term>Chlamydomonas reinhardtii</term><term>Danio zébré</term><term>Dynéines (génétique)</term><term>Flagelles (physiologie)</term><term>Humains</term><term>Mutation</term><term>Pénétrance</term><term>Souris</term><term>Syndrome d'Ellis-van Creveld (génétique)</term><term>Techniques de knock-down de gènes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Dyneins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ellis-Van Creveld Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dynéines</term><term>Syndrome d'Ellis-van Creveld</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Flagelles</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Flagella</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Chlamydomonas reinhardtii</term><term>Gene Knockdown Techniques</term><term>HEK293 Cells</term><term>Humans</term><term>Mice</term><term>Mutation</term><term>Penetrance</term><term>Zebrafish</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Cellules HEK293</term><term>Chlamydomonas reinhardtii</term><term>Danio zébré</term><term>Humains</term><term>Mutation</term><term>Pénétrance</term><term>Souris</term><term>Techniques de knock-down de gènes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify <italic>TCTEX1D2</italic> mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist <italic>Chlamydomonas</italic>, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Fliegauf, M" uniqKey="Fliegauf M">M. Fliegauf</name></author><author><name sortKey="Benzing, T" uniqKey="Benzing T">T. Benzing</name></author><author><name sortKey="Omran, H" uniqKey="Omran H">H. 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Cortés</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mans, Dorus A" sort="Mans, Dorus A" uniqKey="Mans D" first="Dorus A." last="Mans">Dorus A. Mans</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Boldt, Karsten" sort="Boldt, Karsten" uniqKey="Boldt K" first="Karsten" last="Boldt">Karsten Boldt</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Patel, Mitali" sort="Patel, Mitali" uniqKey="Patel M" first="Mitali" last="Patel">Mitali Patel</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Plaza, Jean Marc" sort="Plaza, Jean Marc" uniqKey="Plaza J" first="Jean-Marc" last="Plaza">Jean-Marc Plaza</name><affiliation wicri:level="1"><nlm:aff id="a9"><institution>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Beersum, Sylvia E C" sort="Van Beersum, Sylvia E C" uniqKey="Van Beersum S" first="Sylvia E. 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Van Beersum</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Yap, Zhi Min" sort="Yap, Zhi Min" uniqKey="Yap Z" first="Zhi Min" last="Yap">Zhi Min Yap</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Letteboer, Stef J F" sort="Letteboer, Stef J F" uniqKey="Letteboer S" first="Stef J. F." last="Letteboer">Stef J. F. Letteboer</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Taylor, S Paige" sort="Taylor, S Paige" uniqKey="Taylor S" first="S. Paige" last="Taylor">S. Paige Taylor</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A." last="Johnson">Colin A. Johnson</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name><affiliation wicri:level="1"><nlm:aff id="a12"><institution>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="a13"><institution>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University</institution>, 34093 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a14"><institution>Medical Genetics Department, Koc University School of Medicine</institution>, 34010 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M." last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:aff id="a15"><institution>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center</institution>, Farmington, Connecticut 06030,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a16"><institution>Centre for Translational Genomics-GOSgene, UCL Institute of Child Health</institution>, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="a17"><institution>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University</institution>, PO Box 17666, Al Ain,<country>United Arab Emirates</country></nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B." last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26044572</idno><idno type="pmc">4468853</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468853</idno><idno type="RBID">PMC:4468853</idno><idno type="doi">10.1038/ncomms8074</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000742</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000742</idno><idno type="wicri:Area/Pmc/Curation">000741</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000741</idno><idno type="wicri:Area/Pmc/Checkpoint">001239</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001239</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>TCTEX1D2</italic> mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport</title><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a4"><institution>Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg</institution>, Mathildenstrasse 1, 79112 Freiburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hou, Yuqing" sort="Hou, Yuqing" uniqKey="Hou Y" first="Yuqing" last="Hou">Yuqing Hou</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cortes, Claudio R" sort="Cortes, Claudio R" uniqKey="Cortes C" first="Claudio R." last="Cortés">Claudio R. Cortés</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mans, Dorus A" sort="Mans, Dorus A" uniqKey="Mans D" first="Dorus A." last="Mans">Dorus A. Mans</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Boldt, Karsten" sort="Boldt, Karsten" uniqKey="Boldt K" first="Karsten" last="Boldt">Karsten Boldt</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Patel, Mitali" sort="Patel, Mitali" uniqKey="Patel M" first="Mitali" last="Patel">Mitali Patel</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Plaza, Jean Marc" sort="Plaza, Jean Marc" uniqKey="Plaza J" first="Jean-Marc" last="Plaza">Jean-Marc Plaza</name><affiliation wicri:level="1"><nlm:aff id="a9"><institution>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Beersum, Sylvia E C" sort="Van Beersum, Sylvia E C" uniqKey="Van Beersum S" first="Sylvia E. C." last="Van Beersum">Sylvia E. C. Van Beersum</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Yap, Zhi Min" sort="Yap, Zhi Min" uniqKey="Yap Z" first="Zhi Min" last="Yap">Zhi Min Yap</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Letteboer, Stef J F" sort="Letteboer, Stef J F" uniqKey="Letteboer S" first="Stef J. F." last="Letteboer">Stef J. F. Letteboer</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Taylor, S Paige" sort="Taylor, S Paige" uniqKey="Taylor S" first="S. Paige" last="Taylor">S. Paige Taylor</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A." last="Johnson">Colin A. Johnson</name><affiliation wicri:level="1"><nlm:aff id="a11"><institution>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds</institution>, Leeds LS9 7TF,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J." last="Scambler">Peter J. Scambler</name><affiliation wicri:level="1"><nlm:aff id="a12"><institution>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen</institution>, Tübingen 72074,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="a13"><institution>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University</institution>, 34093 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a14"><institution>Medical Genetics Department, Koc University School of Medicine</institution>, 34010 Istanbul,<country>Turkey</country></nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA</institution>, Los Angeles 90095, California,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M." last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:aff id="a15"><institution>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center</institution>, Farmington, Connecticut 06030,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L." last="Beales">Philip L. Beales</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a16"><institution>Centre for Translational Genomics-GOSgene, UCL Institute of Child Health</institution>, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="a17"><institution>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University</institution>, PO Box 17666, Al Ain,<country>United Arab Emirates</country></nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, St Lucia, Queensland 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris</institution>, Paris 75015,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Human Genetics, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Radboud Institute for Molecular Life Sciences, Radboud University Medical Center</institution>, 6525 GA Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health</institution>, 30 Guilford Street, London WC1N 1EH,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B." last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Cell and Developmental Biology, University of Massachusetts Medical School</institution>, Worcester, Massachusetts 01655,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature Communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify <italic>TCTEX1D2</italic> mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist <italic>Chlamydomonas</italic>, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Fliegauf, M" uniqKey="Fliegauf M">M. Fliegauf</name></author><author><name sortKey="Benzing, T" uniqKey="Benzing T">T. Benzing</name></author><author><name sortKey="Omran, H" uniqKey="Omran H">H. 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Berliner</name></author><author><name sortKey="Rosenbaum, J L" uniqKey="Rosenbaum J">J.L. Rosenbaum</name></author></analytic></biblStruct></listBibl></div1></back></TEI></pmc><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.</title><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation wicri:level="4"><nlm:affiliation>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Hou, Yuqing" sort="Hou, Yuqing" uniqKey="Hou Y" first="Yuqing" last="Hou">Yuqing Hou</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655</wicri:regionArea><wicri:noRegion>Massachusetts 01655</wicri:noRegion></affiliation></author><author><name sortKey="Cortes, Claudio R" sort="Cortes, Claudio R" uniqKey="Cortes C" first="Claudio R" last="Cortés">Claudio R. Cortés</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072</wicri:regionArea><wicri:noRegion>Queensland 4072</wicri:noRegion></affiliation></author><author><name sortKey="Mans, Dorus A" sort="Mans, Dorus A" uniqKey="Mans D" first="Dorus A" last="Mans">Dorus A. Mans</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Boldt, Karsten" sort="Boldt, Karsten" uniqKey="Boldt K" first="Karsten" last="Boldt">Karsten Boldt</name><affiliation wicri:level="3"><nlm:affiliation>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Patel, Mitali" sort="Patel, Mitali" uniqKey="Patel M" first="Mitali" last="Patel">Mitali Patel</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Plaza, Jean Marc" sort="Plaza, Jean Marc" uniqKey="Plaza J" first="Jean-Marc" last="Plaza">Jean-Marc Plaza</name><affiliation wicri:level="4"><nlm:affiliation>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Van Beersum, Sylvia E C" sort="Van Beersum, Sylvia E C" uniqKey="Van Beersum S" first="Sylvia E C" last="Van Beersum">Sylvia E C. Van Beersum</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Yap, Zhi Min" sort="Yap, Zhi Min" uniqKey="Yap Z" first="Zhi Min" last="Yap">Zhi Min Yap</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Letteboer, Stef J F" sort="Letteboer, Stef J F" uniqKey="Letteboer S" first="Stef J F" last="Letteboer">Stef J F. Letteboer</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Taylor, S Paige" sort="Taylor, S Paige" uniqKey="Taylor S" first="S Paige" last="Taylor">S Paige Taylor</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="4"><nlm:affiliation>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A" last="Johnson">Colin A. Johnson</name><affiliation wicri:level="4"><nlm:affiliation>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J" last="Scambler">Peter J. Scambler</name><affiliation wicri:level="4"><nlm:affiliation>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="3"><nlm:affiliation>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul</wicri:regionArea><wicri:noRegion>34010 Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M" last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut 06030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut 06030</wicri:regionArea><wicri:noRegion>Connecticut 06030</wicri:noRegion></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L" last="Beales">Philip L. Beales</name><affiliation wicri:level="4"><nlm:affiliation>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain</wicri:regionArea><wicri:noRegion>Al Ain</wicri:noRegion></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072</wicri:regionArea><wicri:noRegion>Queensland 4072</wicri:noRegion></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M" last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B" last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655</wicri:regionArea><wicri:noRegion>Massachusetts 01655</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26044572</idno><idno type="pmid">26044572</idno><idno type="doi">10.1038/ncomms8074</idno><idno type="wicri:Area/PubMed/Corpus">002D10</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002D10</idno><idno type="wicri:Area/PubMed/Curation">002C35</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002C35</idno><idno type="wicri:Area/PubMed/Checkpoint">002C35</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002C35</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.</title><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation wicri:level="4"><nlm:affiliation>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Hou, Yuqing" sort="Hou, Yuqing" uniqKey="Hou Y" first="Yuqing" last="Hou">Yuqing Hou</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655</wicri:regionArea><wicri:noRegion>Massachusetts 01655</wicri:noRegion></affiliation></author><author><name sortKey="Cortes, Claudio R" sort="Cortes, Claudio R" uniqKey="Cortes C" first="Claudio R" last="Cortés">Claudio R. Cortés</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072</wicri:regionArea><wicri:noRegion>Queensland 4072</wicri:noRegion></affiliation></author><author><name sortKey="Mans, Dorus A" sort="Mans, Dorus A" uniqKey="Mans D" first="Dorus A" last="Mans">Dorus A. Mans</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Boldt, Karsten" sort="Boldt, Karsten" uniqKey="Boldt K" first="Karsten" last="Boldt">Karsten Boldt</name><affiliation wicri:level="3"><nlm:affiliation>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Patel, Mitali" sort="Patel, Mitali" uniqKey="Patel M" first="Mitali" last="Patel">Mitali Patel</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Plaza, Jean Marc" sort="Plaza, Jean Marc" uniqKey="Plaza J" first="Jean-Marc" last="Plaza">Jean-Marc Plaza</name><affiliation wicri:level="4"><nlm:affiliation>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Van Beersum, Sylvia E C" sort="Van Beersum, Sylvia E C" uniqKey="Van Beersum S" first="Sylvia E C" last="Van Beersum">Sylvia E C. Van Beersum</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Yap, Zhi Min" sort="Yap, Zhi Min" uniqKey="Yap Z" first="Zhi Min" last="Yap">Zhi Min Yap</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Letteboer, Stef J F" sort="Letteboer, Stef J F" uniqKey="Letteboer S" first="Stef J F" last="Letteboer">Stef J F. Letteboer</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Taylor, S Paige" sort="Taylor, S Paige" uniqKey="Taylor S" first="S Paige" last="Taylor">S Paige Taylor</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Herridge, Warren" sort="Herridge, Warren" uniqKey="Herridge W" first="Warren" last="Herridge">Warren Herridge</name><affiliation wicri:level="4"><nlm:affiliation>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A" last="Johnson">Colin A. Johnson</name><affiliation wicri:level="4"><nlm:affiliation>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Scambler, Peter J" sort="Scambler, Peter J" uniqKey="Scambler P" first="Peter J" last="Scambler">Peter J. Scambler</name><affiliation wicri:level="4"><nlm:affiliation>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ueffing, Marius" sort="Ueffing, Marius" uniqKey="Ueffing M" first="Marius" last="Ueffing">Marius Ueffing</name><affiliation wicri:level="3"><nlm:affiliation>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hulya" last="Kayserili">Hulya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul</wicri:regionArea><wicri:noRegion>34010 Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="King, Stephen M" sort="King, Stephen M" uniqKey="King S" first="Stephen M" last="King">Stephen M. King</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut 06030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut 06030</wicri:regionArea><wicri:noRegion>Connecticut 06030</wicri:noRegion></affiliation></author><author><name sortKey="Beales, Philip L" sort="Beales, Philip L" uniqKey="Beales P" first="Philip L" last="Beales">Philip L. Beales</name><affiliation wicri:level="4"><nlm:affiliation>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain</wicri:regionArea><wicri:noRegion>Al Ain</wicri:noRegion></affiliation></author><author><name sortKey="Wicking, Carol" sort="Wicking, Carol" uniqKey="Wicking C" first="Carol" last="Wicking">Carol Wicking</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072</wicri:regionArea><wicri:noRegion>Queensland 4072</wicri:noRegion></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Roepman, Ronald" sort="Roepman, Ronald" uniqKey="Roepman R" first="Ronald" last="Roepman">Ronald Roepman</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen</wicri:regionArea><wicri:noRegion>6525 GA Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M" last="Mitchison">Hannah M. Mitchison</name><affiliation wicri:level="4"><nlm:affiliation>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Witman, George B" sort="Witman, George B" uniqKey="Witman G" first="George B" last="Witman">George B. Witman</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655</wicri:regionArea><wicri:noRegion>Massachusetts 01655</wicri:noRegion></affiliation></author></analytic><series><title level="j">Nature communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Chlamydomonas reinhardtii</term><term>Dyneins (genetics)</term><term>Ellis-Van Creveld Syndrome (genetics)</term><term>Flagella (physiology)</term><term>Gene Knockdown Techniques</term><term>HEK293 Cells</term><term>Humans</term><term>Mice</term><term>Mutation</term><term>Penetrance</term><term>Zebrafish</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Cellules HEK293</term><term>Chlamydomonas reinhardtii</term><term>Danio zébré</term><term>Dynéines (génétique)</term><term>Flagelles (physiologie)</term><term>Humains</term><term>Mutation</term><term>Pénétrance</term><term>Souris</term><term>Syndrome d'Ellis-van Creveld (génétique)</term><term>Techniques de knock-down de gènes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Dyneins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ellis-Van Creveld Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dynéines</term><term>Syndrome d'Ellis-van Creveld</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Flagelles</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Flagella</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Chlamydomonas reinhardtii</term><term>Gene Knockdown Techniques</term><term>HEK293 Cells</term><term>Humans</term><term>Mice</term><term>Mutation</term><term>Penetrance</term><term>Zebrafish</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Cellules HEK293</term><term>Chlamydomonas reinhardtii</term><term>Danio zébré</term><term>Humains</term><term>Mutation</term><term>Pénétrance</term><term>Souris</term><term>Techniques de knock-down de gènes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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