LymphedemaV1, France, Analysis, bibRecord, 000074

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Identifieur interne : 000074 ( France/Analysis ); précédent : 000073; suivant : 000075

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Auteurs : Sophie Scheidecker [France] ; Christelle Etard [Allemagne] ; Laurence Haren [France] ; Corinne Stoetzel [France] ; Sarah Hull [Royaume-Uni] ; Gavin Arno [Royaume-Uni] ; Vincent Plagnol [Royaume-Uni] ; Séverine Drunat [France] ; Sandrine Passemard [France] ; Annick Toutain [France] ; Cathy Obringer [France] ; Mériam Koob [France] ; Véronique Geoffroy [France] ; Vincent Marion [France] ; Uwe Str Hle [Allemagne] ; Pia Ostergaard [Royaume-Uni] ; Alain Verloes [France] ; Andreas Merdes [France] ; Anthony T. Moore [Royaume-Uni] ; Hélène Dollfus [France]

Source :

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

RBID : PMC:4385181

Abstract

We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes γ-tubulin complex protein 4, a component belonging to the γ-tubulin ring complex (γ-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the γ-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the γ-TuRC in brain and eye development.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181

DOI: 10.1016/j.ajhg.2015.02.011
PubMed: 25817018
PubMed Central: 4385181

Affiliations:

Links to Exploration step

PMC:4385181

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>TUBGCP4</italic>
 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy</title>
<author><name sortKey="Scheidecker, Sophie" sort="Scheidecker, Sophie" uniqKey="Scheidecker S" first="Sophie" last="Scheidecker">Sophie Scheidecker</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Etard, Christelle" sort="Etard, Christelle" uniqKey="Etard C" first="Christelle" last="Etard">Christelle Etard</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen</wicri:regionArea>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haren, Laurence" sort="Haren, Laurence" uniqKey="Haren L" first="Laurence" last="Haren">Laurence Haren</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse</wicri:regionArea>
<wicri:noRegion>31062 Toulouse</wicri:noRegion>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
<orgName type="university">Université Toulouse III - Paul Sabatier</orgName>
</affiliation>
</author>
<author><name sortKey="Stoetzel, Corinne" sort="Stoetzel, Corinne" uniqKey="Stoetzel C" first="Corinne" last="Stoetzel">Corinne Stoetzel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hull, Sarah" sort="Hull, Sarah" uniqKey="Hull S" first="Sarah" last="Hull">Sarah Hull</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">UCL Genetics Institute, London WC1E 6BT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>UCL Genetics Institute, London WC1E 6BT</wicri:regionArea>
<wicri:noRegion>London WC1E 6BT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Département de Génétique Médicale, Centre Hospitalier Régional et Universitaire de Tours, 37044 Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre Hospitalier Régional et Universitaire de Tours, 37044 Tours</wicri:regionArea>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Obringer, Cathy" sort="Obringer, Cathy" uniqKey="Obringer C" first="Cathy" last="Obringer">Cathy Obringer</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Koob, Meriam" sort="Koob, Meriam" uniqKey="Koob M" first="Mériam" last="Koob">Mériam Koob</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Service de Radiopédiatrie et Imagerie, Hôpitaux Universitaires de Strasbourg et Laboratoire ICube, UMR 7357, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Centre National de la Recherche Scientifique, 67098 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Radiopédiatrie et Imagerie, Hôpitaux Universitaires de Strasbourg et Laboratoire ICube, UMR 7357, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Centre National de la Recherche Scientifique, 67098 Strasbourg</wicri:regionArea>
<wicri:noRegion>67098 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Geoffroy, Veronique" sort="Geoffroy, Veronique" uniqKey="Geoffroy V" first="Véronique" last="Geoffroy">Véronique Geoffroy</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marion, Vincent" sort="Marion, Vincent" uniqKey="Marion V" first="Vincent" last="Marion">Vincent Marion</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Str Hle, Uwe" sort="Str Hle, Uwe" uniqKey="Str Hle U" first="Uwe" last="Str Hle">Uwe Str Hle</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen</wicri:regionArea>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation wicri:level="4"><nlm:aff id="aff10">Human Genetics, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London SW17 0RE, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Genetics, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London SW17 0RE</wicri:regionArea>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Merdes, Andreas" sort="Merdes, Andreas" uniqKey="Merdes A" first="Andreas" last="Merdes">Andreas Merdes</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse</wicri:regionArea>
<wicri:noRegion>31062 Toulouse</wicri:noRegion>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
<orgName type="university">Université Toulouse III - Paul Sabatier</orgName>
</affiliation>
</author>
<author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH</wicri:regionArea>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff12">Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg</wicri:regionArea>
<wicri:noRegion>67091 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">25817018</idno>
<idno type="pmc">4385181</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181</idno>
<idno type="RBID">PMC:4385181</idno>
<idno type="doi">10.1016/j.ajhg.2015.02.011</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">001E57</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E57</idno>
<idno type="wicri:Area/Pmc/Curation">001E56</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E56</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001047</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001047</idno>
<idno type="wicri:Area/Ncbi/Merge">007200</idno>
<idno type="wicri:Area/Ncbi/Curation">007200</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">007200</idno>
<idno type="wicri:Area/Main/Merge">001A74</idno>
<idno type="wicri:Area/Main/Curation">001A71</idno>
<idno type="wicri:Area/Main/Exploration">001A71</idno>
<idno type="wicri:Area/France/Extraction">000074</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>TUBGCP4</italic>
 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy</title>
<author><name sortKey="Scheidecker, Sophie" sort="Scheidecker, Sophie" uniqKey="Scheidecker S" first="Sophie" last="Scheidecker">Sophie Scheidecker</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Etard, Christelle" sort="Etard, Christelle" uniqKey="Etard C" first="Christelle" last="Etard">Christelle Etard</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen</wicri:regionArea>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haren, Laurence" sort="Haren, Laurence" uniqKey="Haren L" first="Laurence" last="Haren">Laurence Haren</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse</wicri:regionArea>
<wicri:noRegion>31062 Toulouse</wicri:noRegion>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
<orgName type="university">Université Toulouse III - Paul Sabatier</orgName>
</affiliation>
</author>
<author><name sortKey="Stoetzel, Corinne" sort="Stoetzel, Corinne" uniqKey="Stoetzel C" first="Corinne" last="Stoetzel">Corinne Stoetzel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hull, Sarah" sort="Hull, Sarah" uniqKey="Hull S" first="Sarah" last="Hull">Sarah Hull</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">UCL Genetics Institute, London WC1E 6BT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>UCL Genetics Institute, London WC1E 6BT</wicri:regionArea>
<wicri:noRegion>London WC1E 6BT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Département de Génétique Médicale, Centre Hospitalier Régional et Universitaire de Tours, 37044 Tours, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre Hospitalier Régional et Universitaire de Tours, 37044 Tours</wicri:regionArea>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Obringer, Cathy" sort="Obringer, Cathy" uniqKey="Obringer C" first="Cathy" last="Obringer">Cathy Obringer</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Koob, Meriam" sort="Koob, Meriam" uniqKey="Koob M" first="Mériam" last="Koob">Mériam Koob</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Service de Radiopédiatrie et Imagerie, Hôpitaux Universitaires de Strasbourg et Laboratoire ICube, UMR 7357, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Centre National de la Recherche Scientifique, 67098 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Radiopédiatrie et Imagerie, Hôpitaux Universitaires de Strasbourg et Laboratoire ICube, UMR 7357, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Centre National de la Recherche Scientifique, 67098 Strasbourg</wicri:regionArea>
<wicri:noRegion>67098 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Geoffroy, Veronique" sort="Geoffroy, Veronique" uniqKey="Geoffroy V" first="Véronique" last="Geoffroy">Véronique Geoffroy</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marion, Vincent" sort="Marion, Vincent" uniqKey="Marion V" first="Vincent" last="Marion">Vincent Marion</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Str Hle, Uwe" sort="Str Hle, Uwe" uniqKey="Str Hle U" first="Uwe" last="Str Hle">Uwe Str Hle</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Toxikologie und Genetik Campus Nord, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen</wicri:regionArea>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
<wicri:noRegion>76344 Eggenstein-Leopoldshafen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation wicri:level="4"><nlm:aff id="aff10">Human Genetics, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London SW17 0RE, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Genetics, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London SW17 0RE</wicri:regionArea>
<orgName type="university">Université de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Fonctionnelle de Génétique Moléculaire, Département de Génétique, Hôpital Robert Debré, Centre Hospitalier Universitaire Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Merdes, Andreas" sort="Merdes, Andreas" uniqKey="Merdes A" first="Andreas" last="Merdes">Andreas Merdes</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie du Développement, Université Paul Sabatier, 31062 Toulouse</wicri:regionArea>
<wicri:noRegion>31062 Toulouse</wicri:noRegion>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
<orgName type="university">Université Toulouse III - Paul Sabatier</orgName>
</affiliation>
</author>
<author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Eye Diseases, UCL Institute of Ophthalmology, London EC1V 9EL</wicri:regionArea>
<wicri:noRegion>London EC1V 9EL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff5">Moorfields Eye Hospital, London EC1V 2PD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Moorfields Eye Hospital, London EC1V 2PD</wicri:regionArea>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH</wicri:regionArea>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg</wicri:regionArea>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
<wicri:noRegion>67085 Strasbourg</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff12">Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg</wicri:regionArea>
<wicri:noRegion>67091 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</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="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>We have identified <italic>TUBGCP4</italic>
 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in <italic>TUBGCP4</italic>
. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in <italic>TUBGCP4</italic>
. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. <italic>TUBGCP4</italic>
 encodes γ-tubulin complex protein 4, a component belonging to the γ-tubulin ring complex (γ-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the γ-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against <italic>tubgcp4</italic>
 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of <italic>TUBGCP4</italic>
 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the γ-TuRC in brain and eye development.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Angleterre</li>
<li>Grand Est</li>
<li>Grand Londres</li>
<li>Midi-Pyrénées</li>
<li>Occitanie (région administrative)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Londres</li>
<li>Paris</li>
<li>Strasbourg</li>
<li>Toulouse</li>
</settlement>
<orgName><li>Université Toulouse III - Paul Sabatier</li>
<li>Université de Londres</li>
</orgName>
</list>
<tree><country name="France"><region name="Grand Est"><name sortKey="Scheidecker, Sophie" sort="Scheidecker, Sophie" uniqKey="Scheidecker S" first="Sophie" last="Scheidecker">Sophie Scheidecker</name>
</region>
<name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name>
<name sortKey="Geoffroy, Veronique" sort="Geoffroy, Veronique" uniqKey="Geoffroy V" first="Véronique" last="Geoffroy">Véronique Geoffroy</name>
<name sortKey="Haren, Laurence" sort="Haren, Laurence" uniqKey="Haren L" first="Laurence" last="Haren">Laurence Haren</name>
<name sortKey="Koob, Meriam" sort="Koob, Meriam" uniqKey="Koob M" first="Mériam" last="Koob">Mériam Koob</name>
<name sortKey="Marion, Vincent" sort="Marion, Vincent" uniqKey="Marion V" first="Vincent" last="Marion">Vincent Marion</name>
<name sortKey="Merdes, Andreas" sort="Merdes, Andreas" uniqKey="Merdes A" first="Andreas" last="Merdes">Andreas Merdes</name>
<name sortKey="Obringer, Cathy" sort="Obringer, Cathy" uniqKey="Obringer C" first="Cathy" last="Obringer">Cathy Obringer</name>
<name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name>
<name sortKey="Stoetzel, Corinne" sort="Stoetzel, Corinne" uniqKey="Stoetzel C" first="Corinne" last="Stoetzel">Corinne Stoetzel</name>
<name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Etard, Christelle" sort="Etard, Christelle" uniqKey="Etard C" first="Christelle" last="Etard">Christelle Etard</name>
</noRegion>
<name sortKey="Str Hle, Uwe" sort="Str Hle, Uwe" uniqKey="Str Hle U" first="Uwe" last="Str Hle">Uwe Str Hle</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Hull, Sarah" sort="Hull, Sarah" uniqKey="Hull S" first="Sarah" last="Hull">Sarah Hull</name>
</noRegion>
<name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name>
<name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name>
<name sortKey="Hull, Sarah" sort="Hull, Sarah" uniqKey="Hull S" first="Sarah" last="Hull">Sarah Hull</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000074 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000074 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:4385181
   |texte=   Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:25817018" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Source :

Abstract

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

Links to Exploration step

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 le lymphœdème
	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.