AustralieFrV1, PascalFrancis, Corpus, bibRecord, 005705

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Identifieur interne : 005705 ( PascalFrancis/Corpus ); précédent : 005704; suivant : 005706

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Auteurs : Thierry Bienvenu ; Karine Poirier ; Gaelle Friocourt ; Nadia Bahi ; Delphine Beaumont ; Fabien Fauchereau ; Lamia Ben Jeema ; Ramzi Zemni ; Marie-Claude Vinet ; Fiona Francis ; Philippe Couvert ; Marie Gomot ; Claude Moraine ; Hans Van Bokhoven ; Vera Kalscheuer ; Suzanne Frints ; Josef Gecz ; Kanae Ohzaki ; Habiba Chaabouni ; Jean-Pierre Fryns ; Vincent Desportes ; Cherif Beldjord ; Jamel Chelly

Source :

Human molecular genetics [ 0964-6906 ] ; 2002.

RBID : Pascal:02-0392185

Descripteurs français

Pascal (Inist)
- Homme, Etude cas, Gène homéotique, Expression génique, Télencéphale, Thalamus, Caractère lié au sexe, Chromosome X, Mutation, Arriération mentale, Gène ARX.

English descriptors

KwdEn :
- Case study, Gene expression, Homeotic gene, Human, Mental retardation, Mutation, Sex linked character, Telencephalon, Thalamus, X-Chromosome.

Abstract

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Hum. mol. genet.`
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A11	`01`	`1`		`@1 BIENVENU (Thierry)`
A11	`02`	`1`		`@1 POIRIER (Karine)`
A11	`03`	`1`		`@1 FRIOCOURT (Gaelle)`
A11	`04`	`1`		`@1 BAHI (Nadia)`
A11	`05`	`1`		`@1 BEAUMONT (Delphine)`
A11	`06`	`1`		`@1 FAUCHEREAU (Fabien)`
A11	`07`	`1`		`@1 BEN JEEMA (Lamia)`
A11	`08`	`1`		`@1 ZEMNI (Ramzi)`
A11	`09`	`1`		`@1 VINET (Marie-Claude)`
A11	`10`	`1`		`@1 FRANCIS (Fiona)`
A11	`11`	`1`		`@1 COUVERT (Philippe)`
A11	`12`	`1`		`@1 GOMOT (Marie)`
A11	`13`	`1`		`@1 MORAINE (Claude)`
A11	`14`	`1`		`@1 VAN BOKHOVEN (Hans)`
A11	`15`	`1`		`@1 KALSCHEUER (Vera)`
A11	`16`	`1`		`@1 FRINTS (Suzanne)`
A11	`17`	`1`		`@1 GECZ (Josef)`
A11	`18`	`1`		`@1 OHZAKI (Kanae)`
A11	`19`	`1`		`@1 CHAABOUNI (Habiba)`
A11	`20`	`1`		`@1 FRYNS (Jean-Pierre)`
A11	`21`	`1`		`@1 DESPORTES (Vincent)`
A11	`22`	`1`		`@1 BELDJORD (Cherif)`
A11	`23`	`1`		`@1 CHELLY (Jamel)`
A14	`01`			`@1 Institut Cochin - CHU Cochin Port-Royal @2 75014 Paris @3 FRA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 8 aut. @Z 9 aut. @Z 10 aut. @Z 11 aut. @Z 21 aut. @Z 22 aut. @Z 23 aut.`
A14	`02`			`@1 Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle @2 Tunis @3 TUN @Z 7 aut. @Z 19 aut.`
A14	`03`			`@1 Service de Génétique, CHU Bretonneau @2 Tours @3 FRA @Z 12 aut. @Z 13 aut.`
A14	`04`			`@1 Department of Human Genetics, University Hospital @2 Nijmegen @3 NLD @Z 14 aut.`
A14	`05`			`@1 Max Plank Institut for Molekulare Genetik @2 Berlin @3 DEU @Z 15 aut.`
A14	`06`			`@1 Center for Human Genetics, Clinical Genetics Unit @2 Leuven @3 BEL @Z 16 aut. @Z 20 aut.`
A14	`07`			`@1 DCMG-Women's and children hospital @2 North Adelaide, SA5006 @3 AUS @Z 17 aut.`
A14	`08`			`@1 NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi @2 Kodaira, Tokyo @3 JPN @Z 18 aut.`
A20				`@1 981-991`
A21				`@1 2002`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 22540 @5 354000100983180120`
A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
A45				`@0 38 ref.`
A47	`01`	`1`		`@0 02-0392185`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Human molecular genetics`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	@0 Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
C02	`01`	`X`		`@0 002A07C03`
C02	`02`	`X`		`@0 002B23D`
C03	`01`	`X`	`FRE`	`@0 Homme @5 01`
C03	`01`	`X`	`ENG`	`@0 Human @5 01`
C03	`01`	`X`	`SPA`	`@0 Hombre @5 01`
C03	`02`	`X`	`FRE`	`@0 Etude cas @5 02`
C03	`02`	`X`	`ENG`	`@0 Case study @5 02`
C03	`02`	`X`	`SPA`	`@0 Estudio caso @5 02`
C03	`03`	`X`	`FRE`	`@0 Gène homéotique @5 05`
C03	`03`	`X`	`ENG`	`@0 Homeotic gene @5 05`
C03	`03`	`X`	`SPA`	`@0 Gen homeótico @5 05`
C03	`04`	`X`	`FRE`	`@0 Expression génique @5 06`
C03	`04`	`X`	`ENG`	`@0 Gene expression @5 06`
C03	`04`	`X`	`SPA`	`@0 Expresión genética @5 06`
C03	`05`	`X`	`FRE`	`@0 Télencéphale @5 07`
C03	`05`	`X`	`ENG`	`@0 Telencephalon @5 07`
C03	`05`	`X`	`SPA`	`@0 Telencéfalo @5 07`
C03	`06`	`X`	`FRE`	`@0 Thalamus @5 08`
C03	`06`	`X`	`ENG`	`@0 Thalamus @5 08`
C03	`06`	`X`	`SPA`	`@0 Tálamo @5 08`
C03	`07`	`X`	`FRE`	`@0 Caractère lié au sexe @5 09`
C03	`07`	`X`	`ENG`	`@0 Sex linked character @5 09`
C03	`07`	`X`	`SPA`	`@0 Carácter ligado al sexo @5 09`
C03	`08`	`X`	`FRE`	`@0 Chromosome X @5 10`
C03	`08`	`X`	`ENG`	`@0 X-Chromosome @5 10 @6 «X»-Chromosome`
C03	`08`	`X`	`SPA`	`@0 Cromosoma X @5 10`
C03	`09`	`X`	`FRE`	`@0 Mutation @5 11`
C03	`09`	`X`	`ENG`	`@0 Mutation @5 11`
C03	`09`	`X`	`SPA`	`@0 Mutación @5 11`
C03	`10`	`X`	`FRE`	`@0 Arriération mentale @5 14`
C03	`10`	`X`	`ENG`	`@0 Mental retardation @5 14`
C03	`10`	`X`	`SPA`	`@0 Retraso mental @5 14`
C03	`11`	`X`	`FRE`	`@0 Gène ARX @4 INC @5 91`
C07	`01`	`X`	`FRE`	`@0 Facteur transcription @5 19`
C07	`01`	`X`	`ENG`	`@0 Transcription factor @5 19`
C07	`01`	`X`	`SPA`	`@0 Factor transcripción @5 19`
N21				`@1 217`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 02-0392185 INIST
ET :	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
AU :	BIENVENU (Thierry); POIRIER (Karine); FRIOCOURT (Gaelle); BAHI (Nadia); BEAUMONT (Delphine); FAUCHEREAU (Fabien); BEN JEEMA (Lamia); ZEMNI (Ramzi); VINET (Marie-Claude); FRANCIS (Fiona); COUVERT (Philippe); GOMOT (Marie); MORAINE (Claude); VAN BOKHOVEN (Hans); KALSCHEUER (Vera); FRINTS (Suzanne); GECZ (Josef); OHZAKI (Kanae); CHAABOUNI (Habiba); FRYNS (Jean-Pierre); DESPORTES (Vincent); BELDJORD (Cherif); CHELLY (Jamel)
AF :	Institut Cochin - CHU Cochin Port-Royal/75014 Paris/France (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut., 10 aut., 11 aut., 21 aut., 22 aut., 23 aut.); Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle/Tunis/Tunisie (7 aut., 19 aut.); Service de Génétique, CHU Bretonneau/Tours/France (12 aut., 13 aut.); Department of Human Genetics, University Hospital/Nijmegen/Pays-Bas (14 aut.); Max Plank Institut for Molekulare Genetik/Berlin/Allemagne (15 aut.); Center for Human Genetics, Clinical Genetics Unit/Leuven/Belgique (16 aut., 20 aut.); DCMG-Women's and children hospital/North Adelaide, SA5006/Australie (17 aut.); NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi/Kodaira, Tokyo/Japon (18 aut.)
DT :	Publication en série; Niveau analytique
SO :	Human molecular genetics; ISSN 0964-6906; Royaume-Uni; Da. 2002; Vol. 11; No. 8; Pp. 981-991; Bibl. 38 ref.
LA :	Anglais
EA :	Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
CC :	002A07C03; 002B23D
FD :	Homme; Etude cas; Gène homéotique; Expression génique; Télencéphale; Thalamus; Caractère lié au sexe; Chromosome X; Mutation; Arriération mentale; Gène ARX
FG :	Facteur transcription
ED :	Human; Case study; Homeotic gene; Gene expression; Telencephalon; Thalamus; Sex linked character; X-Chromosome; Mutation; Mental retardation
EG :	Transcription factor
SD :	Hombre; Estudio caso; Gen homeótico; Expresión genética; Telencéfalo; Tálamo; Carácter ligado al sexo; Cromosoma X; Mutación; Retraso mental
LO :	INIST-22540.354000100983180120
ID :	02-0392185

Links to Exploration step

Pascal:02-0392185

Le document en format XML

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<author><name sortKey="Fauchereau, Fabien" sort="Fauchereau, Fabien" uniqKey="Fauchereau F" first="Fabien" last="Fauchereau">Fabien Fauchereau</name>
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<author><name sortKey="Ben Jeema, Lamia" sort="Ben Jeema, Lamia" uniqKey="Ben Jeema L" first="Lamia" last="Ben Jeema">Lamia Ben Jeema</name>
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<author><name sortKey="Zemni, Ramzi" sort="Zemni, Ramzi" uniqKey="Zemni R" first="Ramzi" last="Zemni">Ramzi Zemni</name>
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<author><name sortKey="Vinet, Marie Claude" sort="Vinet, Marie Claude" uniqKey="Vinet M" first="Marie-Claude" last="Vinet">Marie-Claude Vinet</name>
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<author><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name>
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<author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
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<author><name sortKey="Gomot, Marie" sort="Gomot, Marie" uniqKey="Gomot M" first="Marie" last="Gomot">Marie Gomot</name>
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<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Human Genetics, University Hospital</s1>
<s2>Nijmegen</s2>
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<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation><inist:fA14 i1="05"><s1>Max Plank Institut for Molekulare Genetik</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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</author>
<author><name sortKey="Frints, Suzanne" sort="Frints, Suzanne" uniqKey="Frints S" first="Suzanne" last="Frints">Suzanne Frints</name>
<affiliation><inist:fA14 i1="06"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
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</affiliation>
</author>
<author><name sortKey="Gecz, Josef" sort="Gecz, Josef" uniqKey="Gecz J" first="Josef" last="Gecz">Josef Gecz</name>
<affiliation><inist:fA14 i1="07"><s1>DCMG-Women's and children hospital</s1>
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</author>
<author><name sortKey="Ohzaki, Kanae" sort="Ohzaki, Kanae" uniqKey="Ohzaki K" first="Kanae" last="Ohzaki">Kanae Ohzaki</name>
<affiliation><inist:fA14 i1="08"><s1>NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi</s1>
<s2>Kodaira, Tokyo</s2>
<s3>JPN</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chaabouni, Habiba" sort="Chaabouni, Habiba" uniqKey="Chaabouni H" first="Habiba" last="Chaabouni">Habiba Chaabouni</name>
<affiliation><inist:fA14 i1="02"><s1>Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>7 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation><inist:fA14 i1="06"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Desportes, Vincent" sort="Desportes, Vincent" uniqKey="Desportes V" first="Vincent" last="Desportes">Vincent Desportes</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</author>
<author><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Cherif" last="Beldjord">Cherif Beldjord</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">02-0392185</idno>
<date when="2002">2002</date>
<idno type="stanalyst">PASCAL 02-0392185 INIST</idno>
<idno type="RBID">Pascal:02-0392185</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">005705</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation</title>
<author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Friocourt, Gaelle" sort="Friocourt, Gaelle" uniqKey="Friocourt G" first="Gaelle" last="Friocourt">Gaelle Friocourt</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bahi, Nadia" sort="Bahi, Nadia" uniqKey="Bahi N" first="Nadia" last="Bahi">Nadia Bahi</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Beaumont, Delphine" sort="Beaumont, Delphine" uniqKey="Beaumont D" first="Delphine" last="Beaumont">Delphine Beaumont</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Fauchereau, Fabien" sort="Fauchereau, Fabien" uniqKey="Fauchereau F" first="Fabien" last="Fauchereau">Fabien Fauchereau</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ben Jeema, Lamia" sort="Ben Jeema, Lamia" uniqKey="Ben Jeema L" first="Lamia" last="Ben Jeema">Lamia Ben Jeema</name>
<affiliation><inist:fA14 i1="02"><s1>Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>7 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Zemni, Ramzi" sort="Zemni, Ramzi" uniqKey="Zemni R" first="Ramzi" last="Zemni">Ramzi Zemni</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>21 aut.</sZ>
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<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vinet, Marie Claude" sort="Vinet, Marie Claude" uniqKey="Vinet M" first="Marie-Claude" last="Vinet">Marie-Claude Vinet</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>5 aut.</sZ>
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<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Francis, Fiona" sort="Francis, Fiona" uniqKey="Francis F" first="Fiona" last="Francis">Fiona Francis</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gomot, Marie" sort="Gomot, Marie" uniqKey="Gomot M" first="Marie" last="Gomot">Marie Gomot</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Génétique, CHU Bretonneau</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Génétique, CHU Bretonneau</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Human Genetics, University Hospital</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation><inist:fA14 i1="05"><s1>Max Plank Institut for Molekulare Genetik</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Frints, Suzanne" sort="Frints, Suzanne" uniqKey="Frints S" first="Suzanne" last="Frints">Suzanne Frints</name>
<affiliation><inist:fA14 i1="06"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gecz, Josef" sort="Gecz, Josef" uniqKey="Gecz J" first="Josef" last="Gecz">Josef Gecz</name>
<affiliation><inist:fA14 i1="07"><s1>DCMG-Women's and children hospital</s1>
<s2>North Adelaide, SA5006</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ohzaki, Kanae" sort="Ohzaki, Kanae" uniqKey="Ohzaki K" first="Kanae" last="Ohzaki">Kanae Ohzaki</name>
<affiliation><inist:fA14 i1="08"><s1>NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi</s1>
<s2>Kodaira, Tokyo</s2>
<s3>JPN</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chaabouni, Habiba" sort="Chaabouni, Habiba" uniqKey="Chaabouni H" first="Habiba" last="Chaabouni">Habiba Chaabouni</name>
<affiliation><inist:fA14 i1="02"><s1>Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>7 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation><inist:fA14 i1="06"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Desportes, Vincent" sort="Desportes, Vincent" uniqKey="Desportes V" first="Vincent" last="Desportes">Vincent Desportes</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Cherif" last="Beldjord">Cherif Beldjord</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation><inist:fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>23 aut.</sZ>
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</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Human molecular genetics</title>
<title level="j" type="abbreviated">Hum. mol. genet.</title>
<idno type="ISSN">0964-6906</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Human molecular genetics</title>
<title level="j" type="abbreviated">Hum. mol. genet.</title>
<idno type="ISSN">0964-6906</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Gene expression</term>
<term>Homeotic gene</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Sex linked character</term>
<term>Telencephalon</term>
<term>Thalamus</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Homme</term>
<term>Etude cas</term>
<term>Gène homéotique</term>
<term>Expression génique</term>
<term>Télencéphale</term>
<term>Thalamus</term>
<term>Caractère lié au sexe</term>
<term>Chromosome X</term>
<term>Mutation</term>
<term>Arriération mentale</term>
<term>Gène ARX</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0964-6906</s0>
</fA01>
<fA03 i2="1"><s0>Hum. mol. genet.</s0>
</fA03>
<fA05><s2>11</s2>
</fA05>
<fA06><s2>8</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BIENVENU (Thierry)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>POIRIER (Karine)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>FRIOCOURT (Gaelle)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BAHI (Nadia)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BEAUMONT (Delphine)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>FAUCHEREAU (Fabien)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>BEN JEEMA (Lamia)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>ZEMNI (Ramzi)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>VINET (Marie-Claude)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>FRANCIS (Fiona)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>COUVERT (Philippe)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>GOMOT (Marie)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>MORAINE (Claude)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>VAN BOKHOVEN (Hans)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>KALSCHEUER (Vera)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>FRINTS (Suzanne)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>GECZ (Josef)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>OHZAKI (Kanae)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>CHAABOUNI (Habiba)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>FRYNS (Jean-Pierre)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>DESPORTES (Vincent)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>BELDJORD (Cherif)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>CHELLY (Jamel)</s1>
</fA11>
<fA14 i1="01"><s1>Institut Cochin - CHU Cochin Port-Royal</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle</s1>
<s2>Tunis</s2>
<s3>TUN</s3>
<sZ>7 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Service de Génétique, CHU Bretonneau</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Human Genetics, University Hospital</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Max Plank Institut for Molekulare Genetik</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>DCMG-Women's and children hospital</s1>
<s2>North Adelaide, SA5006</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi</s1>
<s2>Kodaira, Tokyo</s2>
<s3>JPN</s3>
<sZ>18 aut.</sZ>
</fA14>
<fA20><s1>981-991</s1>
</fA20>
<fA21><s1>2002</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>22540</s2>
<s5>354000100983180120</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2002 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>38 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>02-0392185</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Human molecular genetics</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002A07C03</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B23D</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Homme</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Human</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Case study</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Gène homéotique</s0>
<s5>05</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Homeotic gene</s0>
<s5>05</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Gen homeótico</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Expression génique</s0>
<s5>06</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Gene expression</s0>
<s5>06</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Expresión genética</s0>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Télencéphale</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Telencephalon</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Telencéfalo</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Thalamus</s0>
<s5>08</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Thalamus</s0>
<s5>08</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Tálamo</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Caractère lié au sexe</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Sex linked character</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Carácter ligado al sexo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Chromosome X</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>X-Chromosome</s0>
<s5>10</s5>
<s6>«X»-Chromosome</s6>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Cromosoma X</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Arriération mentale</s0>
<s5>14</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Mental retardation</s0>
<s5>14</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Retraso mental</s0>
<s5>14</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Gène ARX</s0>
<s4>INC</s4>
<s5>91</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Facteur transcription</s0>
<s5>19</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transcription factor</s0>
<s5>19</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Factor transcripción</s0>
<s5>19</s5>
</fC07>
<fN21><s1>217</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0392185 INIST</NO>
<ET>ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation</ET>
<AU>BIENVENU (Thierry); POIRIER (Karine); FRIOCOURT (Gaelle); BAHI (Nadia); BEAUMONT (Delphine); FAUCHEREAU (Fabien); BEN JEEMA (Lamia); ZEMNI (Ramzi); VINET (Marie-Claude); FRANCIS (Fiona); COUVERT (Philippe); GOMOT (Marie); MORAINE (Claude); VAN BOKHOVEN (Hans); KALSCHEUER (Vera); FRINTS (Suzanne); GECZ (Josef); OHZAKI (Kanae); CHAABOUNI (Habiba); FRYNS (Jean-Pierre); DESPORTES (Vincent); BELDJORD (Cherif); CHELLY (Jamel)</AU>
<AF>Institut Cochin - CHU Cochin Port-Royal/75014 Paris/France (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut., 10 aut., 11 aut., 21 aut., 22 aut., 23 aut.); Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle/Tunis/Tunisie (7 aut., 19 aut.); Service de Génétique, CHU Bretonneau/Tours/France (12 aut., 13 aut.); Department of Human Genetics, University Hospital/Nijmegen/Pays-Bas (14 aut.); Max Plank Institut for Molekulare Genetik/Berlin/Allemagne (15 aut.); Center for Human Genetics, Clinical Genetics Unit/Leuven/Belgique (16 aut., 20 aut.); DCMG-Women's and children hospital/North Adelaide, SA5006/Australie (17 aut.); NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi/Kodaira, Tokyo/Japon (18 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Human molecular genetics; ISSN 0964-6906; Royaume-Uni; Da. 2002; Vol. 11; No. 8; Pp. 981-991; Bibl. 38 ref.</SO>
<LA>Anglais</LA>
<EA>Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX). Inherited and de novo ARX mutations, including missense mutations and in frame duplicationslinsertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.</EA>
<CC>002A07C03; 002B23D</CC>
<FD>Homme; Etude cas; Gène homéotique; Expression génique; Télencéphale; Thalamus; Caractère lié au sexe; Chromosome X; Mutation; Arriération mentale; Gène ARX</FD>
<FG>Facteur transcription</FG>
<ED>Human; Case study; Homeotic gene; Gene expression; Telencephalon; Thalamus; Sex linked character; X-Chromosome; Mutation; Mental retardation</ED>
<EG>Transcription factor</EG>
<SD>Hombre; Estudio caso; Gen homeótico; Expresión genética; Telencéfalo; Tálamo; Carácter ligado al sexo; Cromosoma X; Mutación; Retraso mental</SD>
<LO>INIST-22540.354000100983180120</LO>
<ID>02-0392185</ID>
</server>
</inist>
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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