AustralieFrV1, Main, Exploration, bibRecord, 004880

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Identifieur interne : 004880 ( Main/Exploration ); précédent : 004879; suivant : 004881

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Auteurs : Maimoona A. Zariwala [États-Unis] ; Heon Yung Gee [États-Unis] ; Małgorzata Kurkowiak [Allemagne, Pologne] ; Dalal A. Al-Mutairi [Koweït, Royaume-Uni] ; Margaret W. Leigh [États-Unis] ; Toby W. Hurd [Royaume-Uni] ; Rim Hjeij [Allemagne] ; Sharon D. Dell [Canada] ; Moumita Chaki [États-Unis] ; Gerard W. Dougherty [Allemagne] ; Mohamed Adan [États-Unis] ; Philip C. Spear [États-Unis] ; Julian Esteve-Rudd [États-Unis] ; Niki T. Loges [Allemagne] ; Margaret Rosenfeld [États-Unis] ; Katrina A. Diaz [États-Unis] ; Heike Olbrich [Allemagne] ; Whitney E. Wolf [États-Unis] ; Eamonn Sheridan [Royaume-Uni] ; Trevor F. C. Batten [Royaume-Uni] ; Jan Halbritter [États-Unis] ; Jonathan D. Porath [États-Unis] ; Stefan Kohl [États-Unis] ; Svjetlana Lovric [États-Unis] ; Daw-Yang Hwang [États-Unis] ; Jessica E. Pittman [États-Unis] ; Kimberlie A. Burns [États-Unis] ; Thomas W. Ferkol [États-Unis] ; Scott D. Sagel [États-Unis] ; Kenneth N. Olivier [États-Unis] ; Lucy C. Morgan [Australie] ; Claudius Werner [Allemagne] ; Johanna Raidt [Allemagne] ; Petra Pennekamp [Allemagne] ; Zhaoxia Sun [États-Unis] ; Weibin Zhou [États-Unis] ; Rannar Airik [États-Unis] ; Sivakumar Natarajan [États-Unis] ; Susan J. Allen [États-Unis] ; Israel Amirav [Israël] ; Dagmar Wieczorek [Allemagne] ; Kerstin Landwehr [Allemagne] ; Kim Nielsen [Danemark] ; Nicolaus Schwerk [Allemagne] ; Jadranka Sertic [Croatie] ; Gabriele Köhler [Allemagne] ; Joseph Washburn [États-Unis] ; Shawn Levy [États-Unis] ; Shuling Fan [États-Unis] ; Cordula Koerner-Rettberg [Allemagne] ; Serge Amselem [France] ; David S. Williams [États-Unis] ; Brian J. Mitchell [États-Unis] ; Iain A. Drummond [États-Unis] ; Edgar A. Otto [États-Unis] ; Heymut Omran [Allemagne] ; Michael R. Knowles [États-Unis] ; Friedhelm Hildebrandt [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2013.

RBID : PMC:3738827

Abstract

Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain ZMYND10 and LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 colocalize with the centriole markers SAS6 and PCM1. Mutations in ZMYND10 result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between ZMYND10 and human PCD, given that zmynd10 knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in Xenopus interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738827

DOI: 10.1016/j.ajhg.2013.06.007
PubMed: 23891469
PubMed Central: 3738827

Affiliations:

Le document en format XML

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<author><name sortKey="Dougherty, Gerard W" sort="Dougherty, Gerard W" uniqKey="Dougherty G" first="Gerard W." last="Dougherty">Gerard W. Dougherty</name>
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<author><name sortKey="Adan, Mohamed" sort="Adan, Mohamed" uniqKey="Adan M" first="Mohamed" last="Adan">Mohamed Adan</name>
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<author><name sortKey="Spear, Philip C" sort="Spear, Philip C" uniqKey="Spear P" first="Philip C." last="Spear">Philip C. Spear</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Esteve Rudd, Julian" sort="Esteve Rudd, Julian" uniqKey="Esteve Rudd J" first="Julian" last="Esteve-Rudd">Julian Esteve-Rudd</name>
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<author><name sortKey="Diaz, Katrina A" sort="Diaz, Katrina A" uniqKey="Diaz K" first="Katrina A." last="Diaz">Katrina A. Diaz</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Wolf, Whitney E" sort="Wolf, Whitney E" uniqKey="Wolf W" first="Whitney E." last="Wolf">Whitney E. Wolf</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
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</placeName>
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<author><name sortKey="Sheridan, Eamonn" sort="Sheridan, Eamonn" uniqKey="Sheridan E" first="Eamonn" last="Sheridan">Eamonn Sheridan</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF</wicri:regionArea>
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<author><name sortKey="Batten, Trevor F C" sort="Batten, Trevor F C" uniqKey="Batten T" first="Trevor F. C." last="Batten">Trevor F. C. Batten</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT</wicri:regionArea>
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<author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name>
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<author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
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<author><name sortKey="Kohl, Stefan" sort="Kohl, Stefan" uniqKey="Kohl S" first="Stefan" last="Kohl">Stefan Kohl</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
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<author><name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Hwang, Daw Yang" sort="Hwang, Daw Yang" uniqKey="Hwang D" first="Daw-Yang" last="Hwang">Daw-Yang Hwang</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
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<author><name sortKey="Pittman, Jessica E" sort="Pittman, Jessica E" uniqKey="Pittman J" first="Jessica E." last="Pittman">Jessica E. Pittman</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
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<author><name sortKey="Burns, Kimberlie A" sort="Burns, Kimberlie A" uniqKey="Burns K" first="Kimberlie A." last="Burns">Kimberlie A. Burns</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
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<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
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</author>
<author><name sortKey="Ferkol, Thomas W" sort="Ferkol, Thomas W" uniqKey="Ferkol T" first="Thomas W." last="Ferkol">Thomas W. Ferkol</name>
<affiliation wicri:level="4"><nlm:aff id="aff18">Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">Université Washington de Saint-Louis</orgName>
</affiliation>
</author>
<author><name sortKey="Sagel, Scott D" sort="Sagel, Scott D" uniqKey="Sagel S" first="Scott D." last="Sagel">Scott D. Sagel</name>
<affiliation wicri:level="2"><nlm:aff id="aff19">Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045</wicri:regionArea>
<placeName><region type="state">Colorado</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation wicri:level="2"><nlm:aff id="aff20">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
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<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Respiratory Medicine, Concord Hospital, Concord 2139</wicri:regionArea>
<wicri:noRegion>Concord 2139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
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<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Raidt, Johanna" sort="Raidt, Johanna" uniqKey="Raidt J" first="Johanna" last="Raidt">Johanna Raidt</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pennekamp, Petra" sort="Pennekamp, Petra" uniqKey="Pennekamp P" first="Petra" last="Pennekamp">Petra Pennekamp</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sun, Zhaoxia" sort="Sun, Zhaoxia" uniqKey="Sun Z" first="Zhaoxia" last="Sun">Zhaoxia Sun</name>
<affiliation wicri:level="2"><nlm:aff id="aff22">Department of Genetics, Yale University, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amirav, Israel" sort="Amirav, Israel" uniqKey="Amirav I" first="Israel" last="Amirav">Israel Amirav</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed</wicri:regionArea>
<wicri:noRegion>Safed</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen</wicri:regionArea>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Landwehr, Kerstin" sort="Landwehr, Kerstin" uniqKey="Landwehr K" first="Kerstin" last="Landwehr">Kerstin Landwehr</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen</wicri:regionArea>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nielsen, Kim" sort="Nielsen, Kim" uniqKey="Nielsen K" first="Kim" last="Nielsen">Kim Nielsen</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<affiliation wicri:level="3"><nlm:aff id="aff27">Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sertic, Jadranka" sort="Sertic, Jadranka" uniqKey="Sertic J" first="Jadranka" last="Sertic">Jadranka Sertic</name>
<affiliation wicri:level="1"><nlm:aff id="aff28">Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia</nlm:aff>
<country xml:lang="fr">Croatie</country>
<wicri:regionArea>Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb</wicri:regionArea>
<wicri:noRegion>10000 Zagreb</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kohler, Gabriele" sort="Kohler, Gabriele" uniqKey="Kohler G" first="Gabriele" last="Köhler">Gabriele Köhler</name>
<affiliation wicri:level="3"><nlm:aff id="aff29">University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University Hospital Muenster, Department of Pathology, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name>
<affiliation wicri:level="2"><nlm:aff id="aff30">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name>
<affiliation wicri:level="2"><nlm:aff id="aff31">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806</wicri:regionArea>
<placeName><region type="state">Alabama</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fan, Shuling" sort="Fan, Shuling" uniqKey="Fan S" first="Shuling" last="Fan">Shuling Fan</name>
<affiliation wicri:level="2"><nlm:aff id="aff32">Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Koerner Rettberg, Cordula" sort="Koerner Rettberg, Cordula" uniqKey="Koerner Rettberg C" first="Cordula" last="Koerner-Rettberg">Cordula Koerner-Rettberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff33">Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum</wicri:regionArea>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<affiliation wicri:level="4"><nlm:aff id="aff34">Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012</wicri:regionArea>
<wicri:noRegion>75012</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 Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Williams, David S" sort="Williams, David S" uniqKey="Williams D" first="David S." last="Williams">David S. Williams</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mitchell, Brian J" sort="Mitchell, Brian J" uniqKey="Mitchell B" first="Brian J." last="Mitchell">Brian J. Mitchell</name>
<affiliation wicri:level="2"><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name>
<affiliation wicri:level="2"><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Nephrology Division, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff35">Department of Genetics, Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff36">Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Chevy Chase, MD 20815</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>ZMYND10</italic>
 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6</title>
<author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</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 wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań</wicri:regionArea>
<wicri:noRegion>60-479 Poznań</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Al Mutairi, Dalal A" sort="Al Mutairi, Dalal A" uniqKey="Al Mutairi D" first="Dalal A." last="Al-Mutairi">Dalal A. Al-Mutairi</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110, Kuwait</nlm:aff>
<country xml:lang="fr">Koweït</country>
<wicri:regionArea>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110</wicri:regionArea>
<wicri:noRegion>13110</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT</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="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</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 wicri:level="4"><nlm:aff id="aff9">Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU</wicri:regionArea>
<orgName type="university">Université d'Édimbourg</orgName>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hjeij, Rim" sort="Hjeij, Rim" uniqKey="Hjeij R" first="Rim" last="Hjeij">Rim Hjeij</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name>
<affiliation wicri:level="4"><nlm:aff id="aff10">Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dougherty, Gerard W" sort="Dougherty, Gerard W" uniqKey="Dougherty G" first="Gerard W." last="Dougherty">Gerard W. Dougherty</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Adan, Mohamed" sort="Adan, Mohamed" uniqKey="Adan M" first="Mohamed" last="Adan">Mohamed Adan</name>
<affiliation wicri:level="2"><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Nephrology Division, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Spear, Philip C" sort="Spear, Philip C" uniqKey="Spear P" first="Philip C." last="Spear">Philip C. Spear</name>
<affiliation wicri:level="2"><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Esteve Rudd, Julian" sort="Esteve Rudd, Julian" uniqKey="Esteve Rudd J" first="Julian" last="Esteve-Rudd">Julian Esteve-Rudd</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rosenfeld, Margaret" sort="Rosenfeld, Margaret" uniqKey="Rosenfeld M" first="Margaret" last="Rosenfeld">Margaret Rosenfeld</name>
<affiliation wicri:level="4"><nlm:aff id="aff15">Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Diaz, Katrina A" sort="Diaz, Katrina A" uniqKey="Diaz K" first="Katrina A." last="Diaz">Katrina A. Diaz</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wolf, Whitney E" sort="Wolf, Whitney E" uniqKey="Wolf W" first="Whitney E." last="Wolf">Whitney E. Wolf</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
</author>
<author><name sortKey="Sheridan, Eamonn" sort="Sheridan, Eamonn" uniqKey="Sheridan E" first="Eamonn" last="Sheridan">Eamonn Sheridan</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF</wicri:regionArea>
<wicri:noRegion>Leeds LS9 7TF</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Batten, Trevor F C" sort="Batten, Trevor F C" uniqKey="Batten T" first="Trevor F. C." last="Batten">Trevor F. C. Batten</name>
<affiliation wicri:level="4"><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT</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="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kohl, Stefan" sort="Kohl, Stefan" uniqKey="Kohl S" first="Stefan" last="Kohl">Stefan Kohl</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hwang, Daw Yang" sort="Hwang, Daw Yang" uniqKey="Hwang D" first="Daw-Yang" last="Hwang">Daw-Yang Hwang</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pittman, Jessica E" sort="Pittman, Jessica E" uniqKey="Pittman J" first="Jessica E." last="Pittman">Jessica E. Pittman</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
</author>
<author><name sortKey="Burns, Kimberlie A" sort="Burns, Kimberlie A" uniqKey="Burns K" first="Kimberlie A." last="Burns">Kimberlie A. Burns</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
</author>
<author><name sortKey="Ferkol, Thomas W" sort="Ferkol, Thomas W" uniqKey="Ferkol T" first="Thomas W." last="Ferkol">Thomas W. Ferkol</name>
<affiliation wicri:level="4"><nlm:aff id="aff18">Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">Université Washington de Saint-Louis</orgName>
</affiliation>
</author>
<author><name sortKey="Sagel, Scott D" sort="Sagel, Scott D" uniqKey="Sagel S" first="Scott D." last="Sagel">Scott D. Sagel</name>
<affiliation wicri:level="2"><nlm:aff id="aff19">Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045</wicri:regionArea>
<placeName><region type="state">Colorado</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<affiliation wicri:level="2"><nlm:aff id="aff20">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Respiratory Medicine, Concord Hospital, Concord 2139</wicri:regionArea>
<wicri:noRegion>Concord 2139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Raidt, Johanna" sort="Raidt, Johanna" uniqKey="Raidt J" first="Johanna" last="Raidt">Johanna Raidt</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pennekamp, Petra" sort="Pennekamp, Petra" uniqKey="Pennekamp P" first="Petra" last="Pennekamp">Petra Pennekamp</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sun, Zhaoxia" sort="Sun, Zhaoxia" uniqKey="Sun Z" first="Zhaoxia" last="Sun">Zhaoxia Sun</name>
<affiliation wicri:level="2"><nlm:aff id="aff22">Department of Genetics, Yale University, New Haven, CT 06520, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University, New Haven, CT 06520</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amirav, Israel" sort="Amirav, Israel" uniqKey="Amirav I" first="Israel" last="Amirav">Israel Amirav</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed</wicri:regionArea>
<wicri:noRegion>Safed</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen</wicri:regionArea>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Landwehr, Kerstin" sort="Landwehr, Kerstin" uniqKey="Landwehr K" first="Kerstin" last="Landwehr">Kerstin Landwehr</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen</wicri:regionArea>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
<wicri:noRegion>Nordrhein-Westfalen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nielsen, Kim" sort="Nielsen, Kim" uniqKey="Nielsen K" first="Kim" last="Nielsen">Kim Nielsen</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<affiliation wicri:level="3"><nlm:aff id="aff27">Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sertic, Jadranka" sort="Sertic, Jadranka" uniqKey="Sertic J" first="Jadranka" last="Sertic">Jadranka Sertic</name>
<affiliation wicri:level="1"><nlm:aff id="aff28">Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia</nlm:aff>
<country xml:lang="fr">Croatie</country>
<wicri:regionArea>Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb</wicri:regionArea>
<wicri:noRegion>10000 Zagreb</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kohler, Gabriele" sort="Kohler, Gabriele" uniqKey="Kohler G" first="Gabriele" last="Köhler">Gabriele Köhler</name>
<affiliation wicri:level="3"><nlm:aff id="aff29">University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University Hospital Muenster, Department of Pathology, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name>
<affiliation wicri:level="2"><nlm:aff id="aff30">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name>
<affiliation wicri:level="2"><nlm:aff id="aff31">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806</wicri:regionArea>
<placeName><region type="state">Alabama</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fan, Shuling" sort="Fan, Shuling" uniqKey="Fan S" first="Shuling" last="Fan">Shuling Fan</name>
<affiliation wicri:level="2"><nlm:aff id="aff32">Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Koerner Rettberg, Cordula" sort="Koerner Rettberg, Cordula" uniqKey="Koerner Rettberg C" first="Cordula" last="Koerner-Rettberg">Cordula Koerner-Rettberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff33">Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum</wicri:regionArea>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
<wicri:noRegion>44791 Bochum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<affiliation wicri:level="4"><nlm:aff id="aff34">Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012</wicri:regionArea>
<wicri:noRegion>75012</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 Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Williams, David S" sort="Williams, David S" uniqKey="Williams D" first="David S." last="Williams">David S. Williams</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mitchell, Brian J" sort="Mitchell, Brian J" uniqKey="Mitchell B" first="Brian J." last="Mitchell">Brian J. Mitchell</name>
<affiliation wicri:level="2"><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name>
<affiliation wicri:level="2"><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Nephrology Division, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff35">Department of Genetics, Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff36">Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Chevy Chase, MD 20815</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</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>Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in <italic>ZMYND10</italic>
 in 14 families and mutations in the recently identified <italic>LRRC6</italic>
 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain <italic>ZMYND10</italic>
 and <italic>LRRC6</italic>
 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 colocalize with the centriole markers SAS6 and PCM1. Mutations in <italic>ZMYND10</italic>
 result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between <italic>ZMYND10</italic>
 and human PCD, given that <italic>zmynd10</italic>
 knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in <italic>Xenopus</italic>
 interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Canada</li>
<li>Croatie</li>
<li>Danemark</li>
<li>France</li>
<li>Israël</li>
<li>Koweït</li>
<li>Pologne</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Alabama</li>
<li>Angleterre</li>
<li>Basse-Saxe</li>
<li>Californie</li>
<li>Caroline du Nord</li>
<li>Colorado</li>
<li>Connecticut</li>
<li>District de Münster</li>
<li>Hovedstaden</li>
<li>Illinois</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Michigan</li>
<li>Missouri (État)</li>
<li>Ontario</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Washington (État)</li>
<li>Yorkshire-et-Humber</li>
<li>Écosse</li>
<li>Île-de-France</li>
</region>
<settlement><li>Chapel Hill (Caroline du Nord)</li>
<li>Copenhague</li>
<li>Hanovre</li>
<li>Leeds</li>
<li>Münster</li>
<li>Paris</li>
<li>Saint-Louis (Missouri)</li>
<li>Seattle</li>
<li>Toronto</li>
<li>Édimbourg</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
<li>Université Washington de Saint-Louis</li>
<li>Université d'Édimbourg</li>
<li>Université de Caroline du Nord à Chapel Hill</li>
<li>Université de Leeds</li>
<li>Université de Toronto</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
<name sortKey="Adan, Mohamed" sort="Adan, Mohamed" uniqKey="Adan M" first="Mohamed" last="Adan">Mohamed Adan</name>
<name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name>
<name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name>
<name sortKey="Burns, Kimberlie A" sort="Burns, Kimberlie A" uniqKey="Burns K" first="Kimberlie A." last="Burns">Kimberlie A. Burns</name>
<name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name>
<name sortKey="Diaz, Katrina A" sort="Diaz, Katrina A" uniqKey="Diaz K" first="Katrina A." last="Diaz">Katrina A. Diaz</name>
<name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name>
<name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name>
<name sortKey="Esteve Rudd, Julian" sort="Esteve Rudd, Julian" uniqKey="Esteve Rudd J" first="Julian" last="Esteve-Rudd">Julian Esteve-Rudd</name>
<name sortKey="Fan, Shuling" sort="Fan, Shuling" uniqKey="Fan S" first="Shuling" last="Fan">Shuling Fan</name>
<name sortKey="Ferkol, Thomas W" sort="Ferkol, Thomas W" uniqKey="Ferkol T" first="Thomas W." last="Ferkol">Thomas W. Ferkol</name>
<name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
<name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name>
<name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<name sortKey="Hwang, Daw Yang" sort="Hwang, Daw Yang" uniqKey="Hwang D" first="Daw-Yang" last="Hwang">Daw-Yang Hwang</name>
<name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
<name sortKey="Kohl, Stefan" sort="Kohl, Stefan" uniqKey="Kohl S" first="Stefan" last="Kohl">Stefan Kohl</name>
<name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
<name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name>
<name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name>
<name sortKey="Mitchell, Brian J" sort="Mitchell, Brian J" uniqKey="Mitchell B" first="Brian J." last="Mitchell">Brian J. Mitchell</name>
<name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name>
<name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name>
<name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name>
<name sortKey="Pittman, Jessica E" sort="Pittman, Jessica E" uniqKey="Pittman J" first="Jessica E." last="Pittman">Jessica E. Pittman</name>
<name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name>
<name sortKey="Rosenfeld, Margaret" sort="Rosenfeld, Margaret" uniqKey="Rosenfeld M" first="Margaret" last="Rosenfeld">Margaret Rosenfeld</name>
<name sortKey="Sagel, Scott D" sort="Sagel, Scott D" uniqKey="Sagel S" first="Scott D." last="Sagel">Scott D. Sagel</name>
<name sortKey="Spear, Philip C" sort="Spear, Philip C" uniqKey="Spear P" first="Philip C." last="Spear">Philip C. Spear</name>
<name sortKey="Sun, Zhaoxia" sort="Sun, Zhaoxia" uniqKey="Sun Z" first="Zhaoxia" last="Sun">Zhaoxia Sun</name>
<name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name>
<name sortKey="Williams, David S" sort="Williams, David S" uniqKey="Williams D" first="David S." last="Williams">David S. Williams</name>
<name sortKey="Wolf, Whitney E" sort="Wolf, Whitney E" uniqKey="Wolf W" first="Whitney E." last="Wolf">Whitney E. Wolf</name>
<name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name>
</region>
<name sortKey="Dougherty, Gerard W" sort="Dougherty, Gerard W" uniqKey="Dougherty G" first="Gerard W." last="Dougherty">Gerard W. Dougherty</name>
<name sortKey="Hjeij, Rim" sort="Hjeij, Rim" uniqKey="Hjeij R" first="Rim" last="Hjeij">Rim Hjeij</name>
<name sortKey="Koerner Rettberg, Cordula" sort="Koerner Rettberg, Cordula" uniqKey="Koerner Rettberg C" first="Cordula" last="Koerner-Rettberg">Cordula Koerner-Rettberg</name>
<name sortKey="Kohler, Gabriele" sort="Kohler, Gabriele" uniqKey="Kohler G" first="Gabriele" last="Köhler">Gabriele Köhler</name>
<name sortKey="Landwehr, Kerstin" sort="Landwehr, Kerstin" uniqKey="Landwehr K" first="Kerstin" last="Landwehr">Kerstin Landwehr</name>
<name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
<name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
<name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
<name sortKey="Pennekamp, Petra" sort="Pennekamp, Petra" uniqKey="Pennekamp P" first="Petra" last="Pennekamp">Petra Pennekamp</name>
<name sortKey="Raidt, Johanna" sort="Raidt, Johanna" uniqKey="Raidt J" first="Johanna" last="Raidt">Johanna Raidt</name>
<name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name>
<name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name>
</noRegion>
<name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name>
</country>
<country name="Koweït"><noRegion><name sortKey="Al Mutairi, Dalal A" sort="Al Mutairi, Dalal A" uniqKey="Al Mutairi D" first="Dalal A." last="Al-Mutairi">Dalal A. Al-Mutairi</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Al Mutairi, Dalal A" sort="Al Mutairi, Dalal A" uniqKey="Al Mutairi D" first="Dalal A." last="Al-Mutairi">Dalal A. Al-Mutairi</name>
</region>
<name sortKey="Batten, Trevor F C" sort="Batten, Trevor F C" uniqKey="Batten T" first="Trevor F. C." last="Batten">Trevor F. C. Batten</name>
<name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name>
<name sortKey="Sheridan, Eamonn" sort="Sheridan, Eamonn" uniqKey="Sheridan E" first="Eamonn" last="Sheridan">Eamonn Sheridan</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name>
</region>
</country>
<country name="Australie"><noRegion><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
</noRegion>
</country>
<country name="Israël"><noRegion><name sortKey="Amirav, Israel" sort="Amirav, Israel" uniqKey="Amirav I" first="Israel" last="Amirav">Israel Amirav</name>
</noRegion>
</country>
<country name="Danemark"><region name="Hovedstaden"><name sortKey="Nielsen, Kim" sort="Nielsen, Kim" uniqKey="Nielsen K" first="Kim" last="Nielsen">Kim Nielsen</name>
</region>
</country>
<country name="Croatie"><noRegion><name sortKey="Sertic, Jadranka" sort="Sertic, Jadranka" uniqKey="Sertic J" first="Jadranka" last="Sertic">Jadranka Sertic</name>
</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004880 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004880 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3738827
   |texte=   ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:23891469" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.