AustralieFrV1, PubMed, Checkpoint, bibRecord, 002D74

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Identifieur interne : 002D74 ( PubMed/Checkpoint ); précédent : 002D73; suivant : 002D75

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Auteurs : Minaka Ishibashi [Australie] ; Elizabeth Manning [Australie] ; Cheryl Shoubridge [Australie] ; Monika Krecsmarik [France] ; Thomas A. Hawkins [Royaume-Uni] ; Jean Giacomotto [Australie] ; Ting Zhao [Australie] ; Thomas Mueller [États-Unis] ; Patricia I. Bader [États-Unis] ; Sau W. Cheung [États-Unis] ; Pawel Stankiewicz [États-Unis] ; Nicole L. Bain [Australie] ; Anna Hackett [Australie] ; Chilamakuri C S. Reddy [Norvège] ; Alejandro S. Mechaly [Australie] ; Bernard Peers [Belgique] ; Stephen W. Wilson [Royaume-Uni] ; Boris Lenhard [Norvège] ; Laure Bally-Cuif [France] ; Jozef Gecz [Australie] ; Thomas S. Becker [Australie] ; Silke Rinkwitz [Australie]

Source :

Human genetics [ 1432-1203 ] ; 2015.

RBID : pubmed:26337422

Descripteurs français

English descriptors

KwdEn :
- Adult, Animals, Animals, Genetically Modified, Brain (embryology), Brain (metabolism), Case-Control Studies, DNA Copy Number Variations, Embryo, Nonmammalian, Female, Gene Dosage, Gene Duplication, Gene Expression Regulation, Developmental, Homeodomain Proteins (genetics), Homeodomain Proteins (metabolism), Humans, Intellectual Disability (genetics), Male, Transcription Factors (genetics), Transcription Factors (metabolism), Zebrafish.
MESH :
- chemical , genetics : Homeodomain Proteins, Transcription Factors.
- embryology : Brain.
- genetics : Intellectual Disability.
- metabolism : Brain, Homeodomain Proteins, Transcription Factors.
- Adult, Animals, Animals, Genetically Modified, Case-Control Studies, DNA Copy Number Variations, Embryo, Nonmammalian, Female, Gene Dosage, Gene Duplication, Gene Expression Regulation, Developmental, Humans, Male, Zebrafish.

Abstract

Protein-coding mutations in the transcription factor-encoding gene ARX cause various forms of intellectual disability (ID) and epilepsy. In contrast, variations in surrounding non-coding sequences are correlated with milder forms of non-syndromic ID and autism and had suggested the importance of ARX gene regulation in the etiology of these disorders. We compile data on several novel and some already identified patients with or without ID that carry duplications of ARX genomic region and consider likely genetic mechanisms underlying the neurodevelopmental defects. We establish the long-range regulatory domain of ARX and identify its brain region-specific autoregulation. We conclude that neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication. This is further exemplified by a small duplication involving a non-functional ARX copy, but with duplicated enhancers. ARX enhancers are located within a 504-kb region and regulate expression specifically in the forebrain in developing and adult zebrafish. Transgenic enhancer-reporter lines were used as in vivo tools to delineate a brain region-specific negative and positive autoregulation of ARX. We find autorepression of ARX in the telencephalon and autoactivation in the ventral thalamus. Fluorescently labeled brain regions in the transgenic lines facilitated the identification of neuronal outgrowth and pathfinding disturbances in the ventral thalamus and telencephalon that occur when arxa dosage is diminished. In summary, we have established a model for how breakpoints in long-range gene regulation alter the expression levels of a target gene brain region-specifically, and how this can cause subtle neuronal phenotypes relating to the etiology of associated neuropsychiatric disease.

DOI: 10.1007/s00439-015-1594-x
PubMed: 26337422

Affiliations:

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Le document en format XML

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<author><name sortKey="Zhao, Ting" sort="Zhao, Ting" uniqKey="Zhao T" first="Ting" last="Zhao">Ting Zhao</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050</wicri:regionArea>
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<author><name sortKey="Mueller, Thomas" sort="Mueller, Thomas" uniqKey="Mueller T" first="Thomas" last="Mueller">Thomas Mueller</name>
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<author><name sortKey="Bader, Patricia I" sort="Bader, Patricia I" uniqKey="Bader P" first="Patricia I" last="Bader">Patricia I. Bader</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Cheung, Sau W" sort="Cheung, Sau W" uniqKey="Cheung S" first="Sau W" last="Cheung">Sau W. Cheung</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston</wicri:regionArea>
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<region type="state">Texas</region>
</placeName>
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<author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston</wicri:regionArea>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
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<author><name sortKey="Bain, Nicole L" sort="Bain, Nicole L" uniqKey="Bain N" first="Nicole L" last="Bain">Nicole L. Bain</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, 2305, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, 2305</wicri:regionArea>
<wicri:noRegion>2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning Disability Service, Hunter Genetics, John Hunter Hospital, Newcastle, NSW, 2305, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning Disability Service, Hunter Genetics, John Hunter Hospital, Newcastle, NSW, 2305</wicri:regionArea>
<wicri:noRegion>2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reddy, Chilamakuri C S" sort="Reddy, Chilamakuri C S" uniqKey="Reddy C" first="Chilamakuri C S" last="Reddy">Chilamakuri C S. Reddy</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mechaly, Alejandro S" sort="Mechaly, Alejandro S" uniqKey="Mechaly A" first="Alejandro S" last="Mechaly">Alejandro S. Mechaly</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050</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>
</author>
<author><name sortKey="Peers, Bernard" sort="Peers, Bernard" uniqKey="Peers B" first="Bernard" last="Peers">Bernard Peers</name>
<affiliation wicri:level="4"><nlm:affiliation>GIGA Research, Universite de Liege, 4000, Liege, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>GIGA Research, Universite de Liege, 4000, Liege</wicri:regionArea>
<orgName type="university">Université de Liège</orgName>
<placeName><settlement type="city">Liège</settlement>
<region type="region" nuts="1">Région wallonne</region>
<region type="province" nuts="1">Province de Liège</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilson, Stephen W" sort="Wilson, Stephen W" uniqKey="Wilson S" first="Stephen W" last="Wilson">Stephen W. Wilson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Cell and Developmental Biology, UCL, London, WC1E 6BT, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Cell and Developmental Biology, UCL, London, WC1E 6BT</wicri:regionArea>
<wicri:noRegion>WC1E 6BT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lenhard, Boris" sort="Lenhard, Boris" uniqKey="Lenhard B" first="Boris" last="Lenhard">Boris Lenhard</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bally Cuif, Laure" sort="Bally Cuif, Laure" uniqKey="Bally Cuif L" first="Laure" last="Bally-Cuif">Laure Bally-Cuif</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurobiology and Development, CNRS, Institute of Neurobiology Alfred Fessard, 91198, Gif-sur-Yvette Cédex, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Neurobiology and Development, CNRS, Institute of Neurobiology Alfred Fessard, 91198, Gif-sur-Yvette Cédex</wicri:regionArea>
<wicri:noRegion>91198, Gif-sur-Yvette Cédex</wicri:noRegion>
<wicri:noRegion>91198, Gif-sur-Yvette Cédex</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA, 5006, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA, 5006</wicri:regionArea>
<wicri:noRegion>5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Becker, Thomas S" sort="Becker, Thomas S" uniqKey="Becker T" first="Thomas S" last="Becker">Thomas S. Becker</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050</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>
</author>
<author><name sortKey="Rinkwitz, Silke" sort="Rinkwitz, Silke" uniqKey="Rinkwitz S" first="Silke" last="Rinkwitz">Silke Rinkwitz</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia. silke.rinkwitz@sydney.edu.au.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050</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>
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<series><title level="j">Human genetics</title>
<idno type="eISSN">1432-1203</idno>
<imprint><date when="2015" type="published">2015</date>
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<term>Animals</term>
<term>Animals, Genetically Modified</term>
<term>Brain (embryology)</term>
<term>Brain (metabolism)</term>
<term>Case-Control Studies</term>
<term>DNA Copy Number Variations</term>
<term>Embryo, Nonmammalian</term>
<term>Female</term>
<term>Gene Dosage</term>
<term>Gene Duplication</term>
<term>Gene Expression Regulation, Developmental</term>
<term>Homeodomain Proteins (genetics)</term>
<term>Homeodomain Proteins (metabolism)</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Male</term>
<term>Transcription Factors (genetics)</term>
<term>Transcription Factors (metabolism)</term>
<term>Zebrafish</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Animal génétiquement modifié</term>
<term>Animaux</term>
<term>Danio zébré</term>
<term>Dosage génique</term>
<term>Duplication de gène</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Embryon non mammalien</term>
<term>Encéphale (embryologie)</term>
<term>Encéphale (métabolisme)</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription (métabolisme)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Protéines à homéodomaine (génétique)</term>
<term>Protéines à homéodomaine (métabolisme)</term>
<term>Régulation de l'expression des gènes au cours du développement</term>
<term>Variations de nombre de copies de segment d'ADN</term>
<term>Études cas-témoins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Homeodomain Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="embryologie" xml:lang="fr"><term>Encéphale</term>
</keywords>
<keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Intellectual Disability</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Facteurs de transcription</term>
<term>Protéines à homéodomaine</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term>
<term>Homeodomain Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Encéphale</term>
<term>Facteurs de transcription</term>
<term>Protéines à homéodomaine</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Animals</term>
<term>Animals, Genetically Modified</term>
<term>Case-Control Studies</term>
<term>DNA Copy Number Variations</term>
<term>Embryo, Nonmammalian</term>
<term>Female</term>
<term>Gene Dosage</term>
<term>Gene Duplication</term>
<term>Gene Expression Regulation, Developmental</term>
<term>Humans</term>
<term>Male</term>
<term>Zebrafish</term>
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<term>Animal génétiquement modifié</term>
<term>Animaux</term>
<term>Danio zébré</term>
<term>Dosage génique</term>
<term>Duplication de gène</term>
<term>Embryon non mammalien</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Régulation de l'expression des gènes au cours du développement</term>
<term>Variations de nombre de copies de segment d'ADN</term>
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<front><div type="abstract" xml:lang="en">Protein-coding mutations in the transcription factor-encoding gene ARX cause various forms of intellectual disability (ID) and epilepsy. In contrast, variations in surrounding non-coding sequences are correlated with milder forms of non-syndromic ID and autism and had suggested the importance of ARX gene regulation in the etiology of these disorders. We compile data on several novel and some already identified patients with or without ID that carry duplications of ARX genomic region and consider likely genetic mechanisms underlying the neurodevelopmental defects. We establish the long-range regulatory domain of ARX and identify its brain region-specific autoregulation. We conclude that neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication. This is further exemplified by a small duplication involving a non-functional ARX copy, but with duplicated enhancers. ARX enhancers are located within a 504-kb region and regulate expression specifically in the forebrain in developing and adult zebrafish. Transgenic enhancer-reporter lines were used as in vivo tools to delineate a brain region-specific negative and positive autoregulation of ARX. We find autorepression of ARX in the telencephalon and autoactivation in the ventral thalamus. Fluorescently labeled brain regions in the transgenic lines facilitated the identification of neuronal outgrowth and pathfinding disturbances in the ventral thalamus and telencephalon that occur when arxa dosage is diminished. In summary, we have established a model for how breakpoints in long-range gene regulation alter the expression levels of a target gene brain region-specifically, and how this can cause subtle neuronal phenotypes relating to the etiology of associated neuropsychiatric disease.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26337422</PMID>
<DateCreated><Year>2015</Year>
<Month>11</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>04</Month>
<Day>12</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>11</Month>
<Day>10</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1432-1203</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>134</Volume>
<Issue>11-12</Issue>
<PubDate><Year>2015</Year>
<Month>Nov</Month>
</PubDate>
</JournalIssue>
<Title>Human genetics</Title>
<ISOAbbreviation>Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.</ArticleTitle>
<Pagination><MedlinePgn>1163-82</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1007/s00439-015-1594-x</ELocationID>
<Abstract><AbstractText>Protein-coding mutations in the transcription factor-encoding gene ARX cause various forms of intellectual disability (ID) and epilepsy. In contrast, variations in surrounding non-coding sequences are correlated with milder forms of non-syndromic ID and autism and had suggested the importance of ARX gene regulation in the etiology of these disorders. We compile data on several novel and some already identified patients with or without ID that carry duplications of ARX genomic region and consider likely genetic mechanisms underlying the neurodevelopmental defects. We establish the long-range regulatory domain of ARX and identify its brain region-specific autoregulation. We conclude that neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication. This is further exemplified by a small duplication involving a non-functional ARX copy, but with duplicated enhancers. ARX enhancers are located within a 504-kb region and regulate expression specifically in the forebrain in developing and adult zebrafish. Transgenic enhancer-reporter lines were used as in vivo tools to delineate a brain region-specific negative and positive autoregulation of ARX. We find autorepression of ARX in the telencephalon and autoactivation in the ventral thalamus. Fluorescently labeled brain regions in the transgenic lines facilitated the identification of neuronal outgrowth and pathfinding disturbances in the ventral thalamus and telencephalon that occur when arxa dosage is diminished. In summary, we have established a model for how breakpoints in long-range gene regulation alter the expression levels of a target gene brain region-specifically, and how this can cause subtle neuronal phenotypes relating to the etiology of associated neuropsychiatric disease.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ishibashi</LastName>
<ForeName>Minaka</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Manning</LastName>
<ForeName>Elizabeth</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Shoubridge</LastName>
<ForeName>Cheryl</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA, 5006, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Krecsmarik</LastName>
<ForeName>Monika</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurobiology and Development, CNRS, Institute of Neurobiology Alfred Fessard, 91198, Gif-sur-Yvette Cédex, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hawkins</LastName>
<ForeName>Thomas A</ForeName>
<Initials>TA</Initials>
<AffiliationInfo><Affiliation>Department of Cell and Developmental Biology, UCL, London, WC1E 6BT, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Giacomotto</LastName>
<ForeName>Jean</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zhao</LastName>
<ForeName>Ting</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Neurology, The People's hospital of Zhengzhou University, Henan, 450003, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mueller</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Division of Biology, Kansas State University, Manhattan, KS, 66502, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bader</LastName>
<ForeName>Patricia I</ForeName>
<Initials>PI</Initials>
<AffiliationInfo><Affiliation>Parkview Cytogenetics and Northeast Indiana Genetics, Fort Wayne, IN, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cheung</LastName>
<ForeName>Sau W</ForeName>
<Initials>SW</Initials>
<AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stankiewicz</LastName>
<ForeName>Pawel</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bain</LastName>
<ForeName>Nicole L</ForeName>
<Initials>NL</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, 2305, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hackett</LastName>
<ForeName>Anna</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Genetics of Learning Disability Service, Hunter Genetics, John Hunter Hospital, Newcastle, NSW, 2305, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School of Medicine and Public Health, University of Newcastle, Newcastle, NSW, 2305, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Reddy</LastName>
<ForeName>Chilamakuri C S</ForeName>
<Initials>CC</Initials>
<AffiliationInfo><Affiliation>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen, Norway.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Tumor Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mechaly</LastName>
<ForeName>Alejandro S</ForeName>
<Initials>AS</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Laboratorio de Ictiofisiología y Acuicultura, Instituto Tecnológico de Chascomús (IIB-INTECH) (CONICET-UNSAM), Buenos Aires, Argentina.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Peers</LastName>
<ForeName>Bernard</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>GIGA Research, Universite de Liege, 4000, Liege, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wilson</LastName>
<ForeName>Stephen W</ForeName>
<Initials>SW</Initials>
<AffiliationInfo><Affiliation>Department of Cell and Developmental Biology, UCL, London, WC1E 6BT, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lenhard</LastName>
<ForeName>Boris</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Department of Biology and Bergen Center for Computational Science, University of Bergen, 5008, Bergen, Norway.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>MRC Clinical Sciences Centre, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bally-Cuif</LastName>
<ForeName>Laure</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurobiology and Development, CNRS, Institute of Neurobiology Alfred Fessard, 91198, Gif-sur-Yvette Cédex, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gecz</LastName>
<ForeName>Jozef</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA, 5006, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Neurogenetics Laboratory, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, Adelaide, SA, 5006, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Becker</LastName>
<ForeName>Thomas S</ForeName>
<Initials>TS</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rinkwitz</LastName>
<ForeName>Silke</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia. silke.rinkwitz@sydney.edu.au.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>104682</GrantID>
<Agency>Wellcome Trust</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant><GrantID>MC_UP_1102/1</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant><GrantID>BB/H012516/1</GrantID>
<Agency>Biotechnology and Biological Sciences Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant><Agency>Wellcome Trust</Agency>
<Country>United Kingdom</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2015</Year>
<Month>09</Month>
<Day>04</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>Germany</Country>
<MedlineTA>Hum Genet</MedlineTA>
<NlmUniqueID>7613873</NlmUniqueID>
<ISSNLinking>0340-6717</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C469264">ARX protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D018398">Homeodomain Proteins</NameOfSubstance>
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   |texte=   Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

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