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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans</title><author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Braun, Daniela A" sort="Braun, Daniela A" uniqKey="Braun D" first="Daniela A." last="Braun">Daniela A. Braun</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Mcinerney Leo, Aideen M" sort="Mcinerney Leo, Aideen M" uniqKey="Mcinerney Leo A" first="Aideen M." last="Mcinerney-Leo">Aideen M. Mcinerney-Leo</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Krug, Pauline" sort="Krug, Pauline" uniqKey="Krug P" first="Pauline" last="Krug">Pauline Krug</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Davis, Erica E" sort="Davis, Erica E" uniqKey="Davis E" first="Erica E." last="Davis">Erica E. Davis</name><affiliation><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Czarnecki, Peter G" sort="Czarnecki, Peter G" uniqKey="Czarnecki P" first="Peter G." last="Czarnecki">Peter G. Czarnecki</name><affiliation><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff></affiliation></author><author><name sortKey="Lehman, Anna M" sort="Lehman, Anna M" uniqKey="Lehman A" first="Anna M." last="Lehman">Anna M. Lehman</name><affiliation><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Trnka, Peter" sort="Trnka, Peter" uniqKey="Trnka P" first="Peter" last="Trnka">Peter Trnka</name><affiliation><nlm:aff id="aff11">School of Paediatrics and Child Health, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation><nlm:aff id="aff12">Bioinformatic Platform, Paris Descartes University, Sorbonne Paris Cité, 75270 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff13">Genomic Platform, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schueler, Markus" sort="Schueler, Markus" uniqKey="Schueler M" first="Markus" last="Schueler">Markus Schueler</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Knebelmann, Bertrand" sort="Knebelmann, Bertrand" uniqKey="Knebelmann B" first="Bertrand" last="Knebelmann">Bertrand Knebelmann</name><affiliation><nlm:aff id="aff14">Department of Nephrology, Necker Hospital, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Burtey, Stephane" sort="Burtey, Stephane" uniqKey="Burtey S" first="Stéphane" last="Burtey">Stéphane Burtey</name><affiliation><nlm:aff id="aff15">Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Marseille 13005, France</nlm:aff></affiliation></author><author><name sortKey="Szab, Attila J" sort="Szab, Attila J" uniqKey="Szab A" first="Attila J." last="Szab">Attila J. Szab</name><affiliation><nlm:aff id="aff16">1<sup>st</sup> Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Tory, Kalman" sort="Tory, Kalman" uniqKey="Tory K" first="Kálmán" last="Tory">Kálmán Tory</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">1<sup>st</sup> Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Gardiner, Brooke" sort="Gardiner, Brooke" uniqKey="Gardiner B" first="Brooke" last="Gardiner">Brooke Gardiner</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Mckenzie, Fiona A" sort="Mckenzie, Fiona A" uniqKey="Mckenzie F" first="Fiona A." last="Mckenzie">Fiona A. Mckenzie</name><affiliation><nlm:aff id="aff17">Genetic Services of Western Australia, Subiaco, WA 6008, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff21">Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Hartley, Jane L" sort="Hartley, Jane L" uniqKey="Hartley J" first="Jane L." last="Hartley">Jane L. Hartley</name><affiliation><nlm:aff id="aff22">Birmingham Children’s Hospital, Birmingham B4 6NH, UK</nlm:aff></affiliation></author><author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R." last="Maher">Eamonn R. Maher</name><affiliation><nlm:aff id="aff23">Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK</nlm:aff></affiliation></author><author><name sortKey="Li, Chunmei" sort="Li, Chunmei" uniqKey="Li C" first="Chunmei" last="Li">Chunmei Li</name><affiliation><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Leroux, Michel R" sort="Leroux, Michel R" uniqKey="Leroux M" first="Michel R." last="Leroux">Michel R. Leroux</name><affiliation><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Zhan, Shing H" sort="Zhan, Shing H" uniqKey="Zhan S" first="Shing H." last="Zhan">Shing H. Zhan</name><affiliation><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Jones, Steven J" sort="Jones, Steven J" uniqKey="Jones S" first="Steven J." last="Jones">Steven J. Jones</name><affiliation><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation><nlm:aff id="aff27">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name><affiliation><nlm:aff id="aff28">Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098, Turkey</nlm:aff></affiliation></author><author><name sortKey="Moorani, Khemchand N" sort="Moorani, Khemchand N" uniqKey="Moorani K" first="Khemchand N." last="Moorani">Khemchand N. Moorani</name><affiliation><nlm:aff id="aff29">Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Constantinescu, Alexandru" sort="Constantinescu, Alexandru" uniqKey="Constantinescu A" first="Alexandru" last="Constantinescu">Alexandru Constantinescu</name><affiliation><nlm:aff id="aff30">Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021, USA</nlm:aff></affiliation></author><author><name sortKey="Krantz, Ian D" sort="Krantz, Ian D" uniqKey="Krantz I" first="Ian D." last="Krantz">Ian D. Krantz</name><affiliation><nlm:aff id="aff31">Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Bernard S" sort="Kaplan, Bernard S" uniqKey="Kaplan B" first="Bernard S." last="Kaplan">Bernard S. Kaplan</name><affiliation><nlm:aff id="aff32">Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA</nlm:aff></affiliation></author><author><name sortKey="Shah, Jagesh V" sort="Shah, Jagesh V" uniqKey="Shah J" first="Jagesh V." last="Shah">Jagesh V. Shah</name><affiliation><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff33">Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215, USA</nlm:aff></affiliation></author><author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><affiliation><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Doherty, Dan" sort="Doherty, Dan" uniqKey="Doherty D" first="Dan" last="Doherty">Dan Doherty</name><affiliation><nlm:aff id="aff35">Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA</nlm:aff></affiliation></author><author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name><affiliation><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff36">Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><affiliation><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff37">Howard Hughes Medical Institute</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24140113</idno><idno type="pmc">3824130</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824130</idno><idno type="RBID">PMC:3824130</idno><idno type="doi">10.1016/j.ajhg.2013.09.012</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001206</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001206</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans</title><author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schmidts, Miriam" sort="Schmidts, Miriam" uniqKey="Schmidts M" first="Miriam" last="Schmidts">Miriam Schmidts</name><affiliation><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Braun, Daniela A" sort="Braun, Daniela A" uniqKey="Braun D" first="Daniela A." last="Braun">Daniela A. Braun</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Mcinerney Leo, Aideen M" sort="Mcinerney Leo, Aideen M" uniqKey="Mcinerney Leo A" first="Aideen M." last="Mcinerney-Leo">Aideen M. Mcinerney-Leo</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Krug, Pauline" sort="Krug, Pauline" uniqKey="Krug P" first="Pauline" last="Krug">Pauline Krug</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Davis, Erica E" sort="Davis, Erica E" uniqKey="Davis E" first="Erica E." last="Davis">Erica E. Davis</name><affiliation><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Czarnecki, Peter G" sort="Czarnecki, Peter G" uniqKey="Czarnecki P" first="Peter G." last="Czarnecki">Peter G. Czarnecki</name><affiliation><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff></affiliation></author><author><name sortKey="Lehman, Anna M" sort="Lehman, Anna M" uniqKey="Lehman A" first="Anna M." last="Lehman">Anna M. Lehman</name><affiliation><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Trnka, Peter" sort="Trnka, Peter" uniqKey="Trnka P" first="Peter" last="Trnka">Peter Trnka</name><affiliation><nlm:aff id="aff11">School of Paediatrics and Child Health, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation><nlm:aff id="aff12">Bioinformatic Platform, Paris Descartes University, Sorbonne Paris Cité, 75270 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff13">Genomic Platform, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schueler, Markus" sort="Schueler, Markus" uniqKey="Schueler M" first="Markus" last="Schueler">Markus Schueler</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Knebelmann, Bertrand" sort="Knebelmann, Bertrand" uniqKey="Knebelmann B" first="Bertrand" last="Knebelmann">Bertrand Knebelmann</name><affiliation><nlm:aff id="aff14">Department of Nephrology, Necker Hospital, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Burtey, Stephane" sort="Burtey, Stephane" uniqKey="Burtey S" first="Stéphane" last="Burtey">Stéphane Burtey</name><affiliation><nlm:aff id="aff15">Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Marseille 13005, France</nlm:aff></affiliation></author><author><name sortKey="Szab, Attila J" sort="Szab, Attila J" uniqKey="Szab A" first="Attila J." last="Szab">Attila J. Szab</name><affiliation><nlm:aff id="aff16">1<sup>st</sup> Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Tory, Kalman" sort="Tory, Kalman" uniqKey="Tory K" first="Kálmán" last="Tory">Kálmán Tory</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">1<sup>st</sup> Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Gardiner, Brooke" sort="Gardiner, Brooke" uniqKey="Gardiner B" first="Brooke" last="Gardiner">Brooke Gardiner</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Mckenzie, Fiona A" sort="Mckenzie, Fiona A" uniqKey="Mckenzie F" first="Fiona A." last="Mckenzie">Fiona A. Mckenzie</name><affiliation><nlm:aff id="aff17">Genetic Services of Western Australia, Subiaco, WA 6008, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff21">Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Hartley, Jane L" sort="Hartley, Jane L" uniqKey="Hartley J" first="Jane L." last="Hartley">Jane L. Hartley</name><affiliation><nlm:aff id="aff22">Birmingham Children’s Hospital, Birmingham B4 6NH, UK</nlm:aff></affiliation></author><author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R." last="Maher">Eamonn R. Maher</name><affiliation><nlm:aff id="aff23">Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK</nlm:aff></affiliation></author><author><name sortKey="Li, Chunmei" sort="Li, Chunmei" uniqKey="Li C" first="Chunmei" last="Li">Chunmei Li</name><affiliation><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Leroux, Michel R" sort="Leroux, Michel R" uniqKey="Leroux M" first="Michel R." last="Leroux">Michel R. Leroux</name><affiliation><nlm:aff id="aff25">Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Zhan, Shing H" sort="Zhan, Shing H" uniqKey="Zhan S" first="Shing H." last="Zhan">Shing H. Zhan</name><affiliation><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Jones, Steven J" sort="Jones, Steven J" uniqKey="Jones S" first="Steven J." last="Jones">Steven J. Jones</name><affiliation><nlm:aff id="aff10">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation><nlm:aff id="aff27">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name><affiliation><nlm:aff id="aff28">Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098, Turkey</nlm:aff></affiliation></author><author><name sortKey="Moorani, Khemchand N" sort="Moorani, Khemchand N" uniqKey="Moorani K" first="Khemchand N." last="Moorani">Khemchand N. Moorani</name><affiliation><nlm:aff id="aff29">Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Constantinescu, Alexandru" sort="Constantinescu, Alexandru" uniqKey="Constantinescu A" first="Alexandru" last="Constantinescu">Alexandru Constantinescu</name><affiliation><nlm:aff id="aff30">Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021, USA</nlm:aff></affiliation></author><author><name sortKey="Krantz, Ian D" sort="Krantz, Ian D" uniqKey="Krantz I" first="Ian D." last="Krantz">Ian D. Krantz</name><affiliation><nlm:aff id="aff31">Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Bernard S" sort="Kaplan, Bernard S" uniqKey="Kaplan B" first="Bernard S." last="Kaplan">Bernard S. Kaplan</name><affiliation><nlm:aff id="aff32">Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA</nlm:aff></affiliation></author><author><name sortKey="Shah, Jagesh V" sort="Shah, Jagesh V" uniqKey="Shah J" first="Jagesh V." last="Shah">Jagesh V. Shah</name><affiliation><nlm:aff id="aff7">Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff33">Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215, USA</nlm:aff></affiliation></author><author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><affiliation><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Doherty, Dan" sort="Doherty, Dan" uniqKey="Doherty D" first="Dan" last="Doherty">Dan Doherty</name><affiliation><nlm:aff id="aff35">Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA</nlm:aff></affiliation></author><author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name><affiliation><nlm:aff id="aff6">Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name><affiliation><nlm:aff id="aff5">Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff36">Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><affiliation><nlm:aff id="aff34">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></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><nlm:aff id="aff4">Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation><nlm:aff id="aff1">Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff37">Howard Hughes Medical Institute</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene <italic>IFT172</italic> in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of <italic>ift172</italic> in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between <italic>ift172</italic> and <italic>ift80</italic>. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24140113</article-id><article-id pub-id-type="pmc">3824130</article-id><article-id pub-id-type="publisher-id">S0002-9297(13)00452-7</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2013.09.012</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Halbritter</surname><given-names>Jan</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">38</xref></contrib><contrib contrib-type="author"><name><surname>Bizet</surname><given-names>Albane A.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">38</xref></contrib><contrib contrib-type="author"><name><surname>Schmidts</surname><given-names>Miriam</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">38</xref></contrib><contrib contrib-type="author"><name><surname>Porath</surname><given-names>Jonathan D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">38</xref></contrib><contrib contrib-type="author"><name><surname>Braun</surname><given-names>Daniela A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Gee</surname><given-names>Heon Yung</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib 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rid="aff8" ref-type="aff">8</xref><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Lehman</surname><given-names>Anna M.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Trnka</surname><given-names>Peter</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Nitschké</surname><given-names>Patrick</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Bole-Feysot</surname><given-names>Christine</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Schueler</surname><given-names>Markus</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Knebelmann</surname><given-names>Bertrand</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Burtey</surname><given-names>Stéphane</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Szabó</surname><given-names>Attila J.</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Tory</surname><given-names>Kálmán</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Leo</surname><given-names>Paul J.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Gardiner</surname><given-names>Brooke</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>McKenzie</surname><given-names>Fiona A.</given-names></name><xref rid="aff17" ref-type="aff">17</xref><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Zankl</surname><given-names>Andreas</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="aff19" ref-type="aff">19</xref><xref rid="aff20" ref-type="aff">20</xref><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Brown</surname><given-names>Matthew A.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Hartley</surname><given-names>Jane L.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Maher</surname><given-names>Eamonn R.</given-names></name><xref rid="aff23" ref-type="aff">23</xref><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Chunmei</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Leroux</surname><given-names>Michel R.</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Scambler</surname><given-names>Peter J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Zhan</surname><given-names>Shing H.</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Steven J.</given-names></name><xref rid="aff10" ref-type="aff">10</xref><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Kayserili</surname><given-names>Hülya</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Tuysuz</surname><given-names>Beyhan</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Moorani</surname><given-names>Khemchand N.</given-names></name><xref rid="aff29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Constantinescu</surname><given-names>Alexandru</given-names></name><xref rid="aff30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Krantz</surname><given-names>Ian D.</given-names></name><xref rid="aff31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Kaplan</surname><given-names>Bernard S.</given-names></name><xref rid="aff32" ref-type="aff">32</xref></contrib><contrib contrib-type="author"><name><surname>Shah</surname><given-names>Jagesh V.</given-names></name><xref rid="aff7" ref-type="aff">7</xref><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff33" ref-type="aff">33</xref></contrib><contrib contrib-type="author"><collab>UK10K Consortium</collab></contrib><contrib contrib-type="author"><name><surname>Hurd</surname><given-names>Toby W.</given-names></name><xref rid="aff34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Doherty</surname><given-names>Dan</given-names></name><xref rid="aff35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Katsanis</surname><given-names>Nicholas</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Duncan</surname><given-names>Emma L.</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="aff18" ref-type="aff">18</xref><xref rid="aff36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>Otto</surname><given-names>Edgar A.</given-names></name><xref rid="aff34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Beales</surname><given-names>Philip L.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Mitchison</surname><given-names>Hannah M.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn2" ref-type="fn">39</xref></contrib><contrib contrib-type="author"><name><surname>Saunier</surname><given-names>Sophie</given-names></name><email>sophie.saunier@inserm.fr</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn2" ref-type="fn">39</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib><contrib contrib-type="author"><name><surname>Hildebrandt</surname><given-names>Friedhelm</given-names></name><email>friedhelm.hildebrandt@childrens.harvard.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff37" ref-type="aff">37</xref><xref rid="fn2" ref-type="fn">39</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Division of Nephrology, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff2"><label>2</label>Institut National de la Santé et de la Recherche Médicale U-983, Necker Hospital, 75015 Paris, France</aff><aff id="aff3"><label>3</label>Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</aff><aff id="aff4"><label>4</label>Molecular Medicine Unit and Birth Defects Research Centre, University College London Institute of Child Health, London, WC1N 1EH, UK</aff><aff id="aff5"><label>5</label>Translational Research Institute, The University of Queensland Diamantina Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia</aff><aff id="aff6"><label>6</label>Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA</aff><aff id="aff7"><label>7</label>Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff8"><label>8</label>Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA</aff><aff id="aff9"><label>9</label>Harvard-MIT Health Sciences and Technology, Boston, MA 02139, USA</aff><aff id="aff10"><label>10</label>Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</aff><aff id="aff11"><label>11</label>School of Paediatrics and Child Health, The University of Queensland, Herston, QLD 4029, Australia</aff><aff id="aff12"><label>12</label>Bioinformatic Platform, Paris Descartes University, Sorbonne Paris Cité, 75270 Paris, France</aff><aff id="aff13"><label>13</label>Genomic Platform, Imagine Institute, 75015 Paris, France</aff><aff id="aff14"><label>14</label>Department of Nephrology, Necker Hospital, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</aff><aff id="aff15"><label>15</label>Centre de Néphrologie et Transplantation Rénale, Hôpital de la Conception, Marseille 13005, France</aff><aff id="aff16"><label>16</label>1<sup>st</sup> Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary</aff><aff id="aff17"><label>17</label>Genetic Services of Western Australia, Subiaco, WA 6008, Australia</aff><aff id="aff18"><label>18</label>School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA 6009, Australia</aff><aff id="aff19"><label>19</label>UQ Centre for Clinical Research, The University of Queensland, Herston, QLD 4029, Australia</aff><aff id="aff20"><label>20</label>Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia</aff><aff id="aff21"><label>21</label>Academic Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</aff><aff id="aff22"><label>22</label>Birmingham Children’s Hospital, Birmingham B4 6NH, UK</aff><aff id="aff23"><label>23</label>Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK</aff><aff id="aff24"><label>24</label>Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK</aff><aff id="aff25"><label>25</label>Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada</aff><aff id="aff26"><label>26</label>Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 4S6, Canada</aff><aff id="aff27"><label>27</label>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey</aff><aff id="aff28"><label>28</label>Division of Pediatric Genetics, Department of Pediatrics, Cerrahpasa Medical School, Istanbul University, Istanbul 34098, Turkey</aff><aff id="aff29"><label>29</label>Department of Paediatric Nephrology, National Institute of Child Health, Karachi 75510, Pakistan</aff><aff id="aff30"><label>30</label>Division of Pediatric Nephrology, Joe DiMaggio Children’s Hospital, Hollywood, FL 33021, USA</aff><aff id="aff31"><label>31</label>Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA</aff><aff id="aff32"><label>32</label>Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA</aff><aff id="aff33"><label>33</label>Renal Medicine, Brigham and Women’s Hospital, Boston, MA 02215, USA</aff><aff id="aff34"><label>34</label>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</aff><aff id="aff35"><label>35</label>Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA</aff><aff id="aff36"><label>36</label>Department of Endocrinology, Royal Brisbane and Women’s Hospital, James Mayne Building, Butterfield Road, Herston, QLD 4029, Australia</aff><aff id="aff37"><label>37</label>Howard Hughes Medical Institute</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>friedhelm.hildebrandt@childrens.harvard.edu</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>sophie.saunier@inserm.fr</email></corresp><fn id="fn1"><label>38</label><p>These authors contributed equally to this work</p></fn><fn id="fn2"><label>39</label><p>These authors contributed equally to this work and are co-senior authors</p></fn></author-notes><pub-date pub-type="ppub"><day>07</day><month>11</month><year>2013</year></pub-date><volume>93</volume><issue>5</issue><fpage>915</fpage><lpage>925</lpage><history><date date-type="received"><day>29</day><month>7</month><year>2013</year></date><date date-type="rev-recd"><day>6</day><month>9</month><year>2013</year></date><date date-type="accepted"><day>24</day><month>9</month><year>2013</year></date></history><permissions><copyright-statement>© 2013 The Authors</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p>Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene <italic>IFT172</italic> in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of <italic>ift172</italic> in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between <italic>ift172</italic> and <italic>ift80</italic>. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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