AustralieFrV1, Main, Exploration, bibRecord, 002B04

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Identifieur interne : 002B04 ( Main/Exploration ); précédent : 002B03; suivant : 002B05

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Auteurs : Gianina Ravenscroft [Australie] ; Flora Nolent [France] ; Sulekha Rajagopalan [Australie] ; Ana M. Meireles [États-Unis] ; Kevin J. Paavola [États-Unis] ; Dominique Gaillard [France] ; Elisabeth Alanio [France] ; Michael Buckland [Australie] ; Susan Arbuckle [Australie] ; Michael Krivanek [Australie] ; Jérome Maluenda [France] ; Stephen Pannell [Australie] ; Rebecca Gooding [Australie] ; Royston W. Ong [Australie] ; Richard J. Allcock [Australie] ; Ellaine D. F. Carvalho [Brésil] ; Maria D. F. Carvalho [Brésil] ; Fernando Kok [Brésil] ; William S. Talbot [États-Unis] ; Judith Melki [France] ; Nigel G. Laing [Australie]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2015.

RBID : PMC:4457946

Descripteurs français

KwdFr :
- Alignement de séquences, Analyse de séquence d'ADN, Arthrogrypose (anatomopathologie), Arthrogrypose (génétique), Données de séquences moléculaires, Exome (génétique), Humains, Immunohistochimie, Mutation faux-sens (génétique), Neurofibres myélinisées (anatomopathologie), Pedigree, Récepteurs couplés aux protéines G (génétique), Séquence d'acides aminés, Séquence nucléotidique.
MESH :
- anatomopathologie : Arthrogrypose, Neurofibres myélinisées.
- génétique : Arthrogrypose, Exome, Mutation faux-sens, Récepteurs couplés aux protéines G.
- Alignement de séquences, Analyse de séquence d'ADN, Données de séquences moléculaires, Humains, Immunohistochimie, Pedigree, Séquence d'acides aminés, Séquence nucléotidique.

English descriptors

KwdEn :
- Amino Acid Sequence, Arthrogryposis (genetics), Arthrogryposis (pathology), Base Sequence, Exome (genetics), Humans, Immunohistochemistry, Molecular Sequence Data, Mutation, Missense (genetics), Nerve Fibers, Myelinated (pathology), Pedigree, Receptors, G-Protein-Coupled (genetics), Sequence Alignment, Sequence Analysis, DNA.
MESH :
- chemical , genetics : Receptors, G-Protein-Coupled.
- genetics : Arthrogryposis, Exome, Mutation, Missense.
- pathology : Arthrogryposis, Nerve Fibers, Myelinated.
- Amino Acid Sequence, Base Sequence, Humans, Immunohistochemistry, Molecular Sequence Data, Pedigree, Sequence Alignment, Sequence Analysis, DNA.

Abstract

Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequencing, it was shown that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one frameshift mutation) in GPR126. GPR126 encodes G-protein-coupled receptor 126, which has been shown to be essential for myelination of axons in the peripheral nervous system in fish and mice. A previous study reported that Gpr126^−/− mice have a lethal arthrogryposis phenotype. We have shown that the peripheral nerves in affected individuals from one family lack myelin basic protein, suggesting that this disease in affected individuals is due to defective myelination of the peripheral axons during fetal development. Previous work has suggested that autoproteolytic cleavage is important for activating GPR126 signaling, and our biochemical assays indicated that the missense substitution (p.Val769Glu [c.2306T>A]) impairs autoproteolytic cleavage of GPR126. Our data indicate that GPR126 is critical for myelination of peripheral nerves in humans. This study adds to the literature implicating defective axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be investigated in individuals affected by this disorder.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457946

DOI: 10.1016/j.ajhg.2015.04.014
PubMed: 26004201
PubMed Central: 4457946

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations of <italic>GPR126</italic>
 Are Responsible for Severe Arthrogryposis Multiplex Congenita</title>
<author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajagopalan, Sulekha" sort="Rajagopalan, Sulekha" uniqKey="Rajagopalan S" first="Sulekha" last="Rajagopalan">Sulekha Rajagopalan</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW 1871, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW 1871</wicri:regionArea>
<wicri:noRegion>NSW 1871</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meireles, Ana M" sort="Meireles, Ana M" uniqKey="Meireles A" first="Ana M." last="Meireles">Ana M. Meireles</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paavola, Kevin J" sort="Paavola, Kevin J" uniqKey="Paavola K" first="Kevin J." last="Paavola">Kevin J. Paavola</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaillard, Dominique" sort="Gaillard, Dominique" uniqKey="Gaillard D" first="Dominique" last="Gaillard">Dominique Gaillard</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Genetics Department, Maison Blanche Hospital, Centre Hospitalier Universitaire de Reims, Reims 51092, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetics Department, Maison Blanche Hospital, Centre Hospitalier Universitaire de Reims, Reims 51092</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Champagne-Ardenne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alanio, Elisabeth" sort="Alanio, Elisabeth" uniqKey="Alanio E" first="Elisabeth" last="Alanio">Elisabeth Alanio</name>
<affiliation wicri:level="3"><nlm:aff id="aff7">Pol Bouin Laboratory, University Hospital, Reims 51092, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pol Bouin Laboratory, University Hospital, Reims 51092</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Champagne-Ardenne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Buckland, Michael" sort="Buckland, Michael" uniqKey="Buckland M" first="Michael" last="Buckland">Michael Buckland</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Brain & Mind Research Institute, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Brain & Mind Research Institute, University of Sydney, Sydney, NSW 2006</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff9">Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, NSW 2050</wicri:regionArea>
<wicri:noRegion>NSW 2050</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Arbuckle, Susan" sort="Arbuckle, Susan" uniqKey="Arbuckle S" first="Susan" last="Arbuckle">Susan Arbuckle</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krivanek, Michael" sort="Krivanek, Michael" uniqKey="Krivanek M" first="Michael" last="Krivanek">Michael Krivanek</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pannell, Stephen" sort="Pannell, Stephen" uniqKey="Pannell S" first="Stephen" last="Pannell">Stephen Pannell</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gooding, Rebecca" sort="Gooding, Rebecca" uniqKey="Gooding R" first="Rebecca" last="Gooding">Rebecca Gooding</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ong, Royston W" sort="Ong, Royston W" uniqKey="Ong R" first="Royston W." last="Ong">Royston W. Ong</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allcock, Richard J" sort="Allcock, Richard J" uniqKey="Allcock R" first="Richard J." last="Allcock">Richard J. Allcock</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carvalho, Ellaine D F" sort="Carvalho, Ellaine D F" uniqKey="Carvalho E" first="Ellaine D. F." last="Carvalho">Ellaine D. F. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Christus University Center, Fortaleza, CE, 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Christus University Center, Fortaleza, CE, 04013-000</wicri:regionArea>
<wicri:noRegion>04013-000</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff14">Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230</wicri:regionArea>
<wicri:noRegion>CE 60160-230</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carvalho, Maria D F" sort="Carvalho, Maria D F" uniqKey="Carvalho M" first="Maria D. F." last="Carvalho">Maria D. F. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Christus University Center, Fortaleza, CE, 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Christus University Center, Fortaleza, CE, 04013-000</wicri:regionArea>
<wicri:noRegion>04013-000</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff14">Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230</wicri:regionArea>
<wicri:noRegion>CE 60160-230</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15">Ceará State University, Fortaleza, CE 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Ceará State University, Fortaleza, CE 04013-000</wicri:regionArea>
<wicri:noRegion>CE 04013-000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Mendelics Genomic Analysis, Sao Paulo, SP 04013-000</wicri:regionArea>
<wicri:noRegion>SP 04013-000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talbot, William S" sort="Talbot, William S" uniqKey="Talbot W" first="William S." last="Talbot">William S. Talbot</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<affiliation wicri:level="3"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">26004201</idno>
<idno type="pmc">4457946</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457946</idno>
<idno type="RBID">PMC:4457946</idno>
<idno type="doi">10.1016/j.ajhg.2015.04.014</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">001214</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001214</idno>
<idno type="wicri:Area/Pmc/Curation">001075</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001075</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000E46</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000E46</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002C63</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002C63</idno>
<idno type="wicri:Area/PubMed/Curation">002B89</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002B89</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002B89</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002B89</idno>
<idno type="wicri:Area/Ncbi/Merge">002613</idno>
<idno type="wicri:Area/Ncbi/Curation">002613</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002613</idno>
<idno type="wicri:Area/Main/Merge">002B04</idno>
<idno type="wicri:Area/Main/Curation">002B04</idno>
<idno type="wicri:Area/Main/Exploration">002B04</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations of <italic>GPR126</italic>
 Are Responsible for Severe Arthrogryposis Multiplex Congenita</title>
<author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajagopalan, Sulekha" sort="Rajagopalan, Sulekha" uniqKey="Rajagopalan S" first="Sulekha" last="Rajagopalan">Sulekha Rajagopalan</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW 1871, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW 1871</wicri:regionArea>
<wicri:noRegion>NSW 1871</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meireles, Ana M" sort="Meireles, Ana M" uniqKey="Meireles A" first="Ana M." last="Meireles">Ana M. Meireles</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paavola, Kevin J" sort="Paavola, Kevin J" uniqKey="Paavola K" first="Kevin J." last="Paavola">Kevin J. Paavola</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaillard, Dominique" sort="Gaillard, Dominique" uniqKey="Gaillard D" first="Dominique" last="Gaillard">Dominique Gaillard</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Genetics Department, Maison Blanche Hospital, Centre Hospitalier Universitaire de Reims, Reims 51092, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetics Department, Maison Blanche Hospital, Centre Hospitalier Universitaire de Reims, Reims 51092</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Champagne-Ardenne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alanio, Elisabeth" sort="Alanio, Elisabeth" uniqKey="Alanio E" first="Elisabeth" last="Alanio">Elisabeth Alanio</name>
<affiliation wicri:level="3"><nlm:aff id="aff7">Pol Bouin Laboratory, University Hospital, Reims 51092, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pol Bouin Laboratory, University Hospital, Reims 51092</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Champagne-Ardenne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Buckland, Michael" sort="Buckland, Michael" uniqKey="Buckland M" first="Michael" last="Buckland">Michael Buckland</name>
<affiliation wicri:level="4"><nlm:aff id="aff8">Brain & Mind Research Institute, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Brain & Mind Research Institute, University of Sydney, Sydney, NSW 2006</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff9">Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, NSW 2050</wicri:regionArea>
<wicri:noRegion>NSW 2050</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Arbuckle, Susan" sort="Arbuckle, Susan" uniqKey="Arbuckle S" first="Susan" last="Arbuckle">Susan Arbuckle</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krivanek, Michael" sort="Krivanek, Michael" uniqKey="Krivanek M" first="Michael" last="Krivanek">Michael Krivanek</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pathology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<wicri:noRegion>94276</wicri:noRegion>
<wicri:noRegion>94276</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pannell, Stephen" sort="Pannell, Stephen" uniqKey="Pannell S" first="Stephen" last="Pannell">Stephen Pannell</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gooding, Rebecca" sort="Gooding, Rebecca" uniqKey="Gooding R" first="Rebecca" last="Gooding">Rebecca Gooding</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ong, Royston W" sort="Ong, Royston W" uniqKey="Ong R" first="Royston W." last="Ong">Royston W. Ong</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allcock, Richard J" sort="Allcock, Richard J" uniqKey="Allcock R" first="Richard J." last="Allcock">Richard J. Allcock</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carvalho, Ellaine D F" sort="Carvalho, Ellaine D F" uniqKey="Carvalho E" first="Ellaine D. F." last="Carvalho">Ellaine D. F. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Christus University Center, Fortaleza, CE, 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Christus University Center, Fortaleza, CE, 04013-000</wicri:regionArea>
<wicri:noRegion>04013-000</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff14">Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230</wicri:regionArea>
<wicri:noRegion>CE 60160-230</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carvalho, Maria D F" sort="Carvalho, Maria D F" uniqKey="Carvalho M" first="Maria D. F." last="Carvalho">Maria D. F. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Christus University Center, Fortaleza, CE, 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Christus University Center, Fortaleza, CE, 04013-000</wicri:regionArea>
<wicri:noRegion>04013-000</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff14">Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genpharma Consultoria Farmaceutica e Genetica, Ltda, Fortaleza, CE 60160-230</wicri:regionArea>
<wicri:noRegion>CE 60160-230</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15">Ceará State University, Fortaleza, CE 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Ceará State University, Fortaleza, CE 04013-000</wicri:regionArea>
<wicri:noRegion>CE 04013-000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Mendelics Genomic Analysis, Sao Paulo, SP 04013-000</wicri:regionArea>
<wicri:noRegion>SP 04013-000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talbot, William S" sort="Talbot, William S" uniqKey="Talbot W" first="William S." last="Talbot">William S. Talbot</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Developmental Biology, Stanford University, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<affiliation wicri:level="3"><nlm:aff id="aff2">Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Recherche-1169, INSERM, le Kremlin-Bicêtre 94276</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">University Paris-Sud, le Kremlin-Bicêtre 94276, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris-Sud, le Kremlin-Bicêtre 94276</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</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="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Arthrogryposis (genetics)</term>
<term>Arthrogryposis (pathology)</term>
<term>Base Sequence</term>
<term>Exome (genetics)</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense (genetics)</term>
<term>Nerve Fibers, Myelinated (pathology)</term>
<term>Pedigree</term>
<term>Receptors, G-Protein-Coupled (genetics)</term>
<term>Sequence Alignment</term>
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Alignement de séquences</term>
<term>Analyse de séquence d'ADN</term>
<term>Arthrogrypose (anatomopathologie)</term>
<term>Arthrogrypose (génétique)</term>
<term>Données de séquences moléculaires</term>
<term>Exome (génétique)</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Mutation faux-sens (génétique)</term>
<term>Neurofibres myélinisées (anatomopathologie)</term>
<term>Pedigree</term>
<term>Récepteurs couplés aux protéines G (génétique)</term>
<term>Séquence d'acides aminés</term>
<term>Séquence nucléotidique</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, G-Protein-Coupled</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Arthrogrypose</term>
<term>Neurofibres myélinisées</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arthrogryposis</term>
<term>Exome</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Arthrogrypose</term>
<term>Exome</term>
<term>Mutation faux-sens</term>
<term>Récepteurs couplés aux protéines G</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Arthrogryposis</term>
<term>Nerve Fibers, Myelinated</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Base Sequence</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
<term>Sequence Alignment</term>
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Alignement de séquences</term>
<term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Pedigree</term>
<term>Séquence d'acides aminés</term>
<term>Séquence nucléotidique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequencing, it was shown that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one frameshift mutation) in <italic>GPR126</italic>
. <italic>GPR126</italic>
 encodes G-protein-coupled receptor 126, which has been shown to be essential for myelination of axons in the peripheral nervous system in fish and mice. A previous study reported that <italic>Gpr126</italic>
<sup>−/−</sup>
 mice have a lethal arthrogryposis phenotype. We have shown that the peripheral nerves in affected individuals from one family lack myelin basic protein, suggesting that this disease in affected individuals is due to defective myelination of the peripheral axons during fetal development. Previous work has suggested that autoproteolytic cleavage is important for activating GPR126 signaling, and our biochemical assays indicated that the missense substitution (p.Val769Glu [c.2306T>A]) impairs autoproteolytic cleavage of GPR126. Our data indicate that GPR126 is critical for myelination of peripheral nerves in humans. This study adds to the literature implicating defective axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that <italic>GPR126</italic>
 mutations should be investigated in individuals affected by this disorder.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Brésil</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Champagne-Ardenne</li>
<li>Grand Est</li>
<li>Nouvelle-Galles du Sud</li>
<li>Île-de-France</li>
</region>
<settlement><li>Sydney</li>
</settlement>
<orgName><li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name>
</noRegion>
<name sortKey="Allcock, Richard J" sort="Allcock, Richard J" uniqKey="Allcock R" first="Richard J." last="Allcock">Richard J. Allcock</name>
<name sortKey="Arbuckle, Susan" sort="Arbuckle, Susan" uniqKey="Arbuckle S" first="Susan" last="Arbuckle">Susan Arbuckle</name>
<name sortKey="Buckland, Michael" sort="Buckland, Michael" uniqKey="Buckland M" first="Michael" last="Buckland">Michael Buckland</name>
<name sortKey="Buckland, Michael" sort="Buckland, Michael" uniqKey="Buckland M" first="Michael" last="Buckland">Michael Buckland</name>
<name sortKey="Gooding, Rebecca" sort="Gooding, Rebecca" uniqKey="Gooding R" first="Rebecca" last="Gooding">Rebecca Gooding</name>
<name sortKey="Krivanek, Michael" sort="Krivanek, Michael" uniqKey="Krivanek M" first="Michael" last="Krivanek">Michael Krivanek</name>
<name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<name sortKey="Ong, Royston W" sort="Ong, Royston W" uniqKey="Ong R" first="Royston W." last="Ong">Royston W. Ong</name>
<name sortKey="Pannell, Stephen" sort="Pannell, Stephen" uniqKey="Pannell S" first="Stephen" last="Pannell">Stephen Pannell</name>
<name sortKey="Rajagopalan, Sulekha" sort="Rajagopalan, Sulekha" uniqKey="Rajagopalan S" first="Sulekha" last="Rajagopalan">Sulekha Rajagopalan</name>
</country>
<country name="France"><noRegion><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name>
</noRegion>
<name sortKey="Alanio, Elisabeth" sort="Alanio, Elisabeth" uniqKey="Alanio E" first="Elisabeth" last="Alanio">Elisabeth Alanio</name>
<name sortKey="Gaillard, Dominique" sort="Gaillard, Dominique" uniqKey="Gaillard D" first="Dominique" last="Gaillard">Dominique Gaillard</name>
<name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name>
<name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name>
<name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name>
<name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name>
</country>
<country name="États-Unis"><region name="Californie"><name sortKey="Meireles, Ana M" sort="Meireles, Ana M" uniqKey="Meireles A" first="Ana M." last="Meireles">Ana M. Meireles</name>
</region>
<name sortKey="Paavola, Kevin J" sort="Paavola, Kevin J" uniqKey="Paavola K" first="Kevin J." last="Paavola">Kevin J. Paavola</name>
<name sortKey="Talbot, William S" sort="Talbot, William S" uniqKey="Talbot W" first="William S." last="Talbot">William S. Talbot</name>
</country>
<country name="Brésil"><noRegion><name sortKey="Carvalho, Ellaine D F" sort="Carvalho, Ellaine D F" uniqKey="Carvalho E" first="Ellaine D. F." last="Carvalho">Ellaine D. F. Carvalho</name>
</noRegion>
<name sortKey="Carvalho, Ellaine D F" sort="Carvalho, Ellaine D F" uniqKey="Carvalho E" first="Ellaine D. F." last="Carvalho">Ellaine D. F. Carvalho</name>
<name sortKey="Carvalho, Maria D F" sort="Carvalho, Maria D F" uniqKey="Carvalho M" first="Maria D. F." last="Carvalho">Maria D. F. Carvalho</name>
<name sortKey="Carvalho, Maria D F" sort="Carvalho, Maria D F" uniqKey="Carvalho M" first="Maria D. F." last="Carvalho">Maria D. F. Carvalho</name>
<name sortKey="Carvalho, Maria D F" sort="Carvalho, Maria D F" uniqKey="Carvalho M" first="Maria D. F." last="Carvalho">Maria D. F. Carvalho</name>
<name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name>
</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 002B04 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002B04 | 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:4457946
   |texte=   Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:26004201" \
       | 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

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Source :

Descripteurs français

English descriptors

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.