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

Source :

• Human Molecular Genetics [ 0964-6906 ] ; 2002-04-15.

Descripteurs français

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

English descriptors

• KwdEn :
  • Abnormal dhplc, Adult brain, Adult stages, Amino, Amino acid change, Amino acid residues, Amino acid sequence, Aristaless, Case study, Cellular processes, Cerebellum, Cerebral cortex, Coding exons, Coding sequences, Cognitive development, Cortical plate, Critical region, Dhplc, Different databases, Different stages, Direct sequencing, Drosophila, Drosophila melanogaster, Embryo, Exon, Expression level, Family family, Family members, Fetal, Fetal brain, Functional domains, Genbank accession numbers, Gene, Gene expression, Genet, Genetic interval, Genetic intervals, Genetics, Glial cells, High level, Hippocampus, Homeobox gene, Homeodomain, Homeodomain proteins, Homeotic gene, Human, Human genetics, Hybridization, Hybridization analysis, Institut cochin, Intermediate zone, Linkage analysis, Lymphoblastoid cell lines, Marginal zone, Mental retardation, Missense, Missense mutation, Missense mutations, Molecular genetics, Monogenic causes, Mouse embryos, Mrna, Mutation, Nature genet, Nervous system, Neuronal, Neuronal cells, Neuronal morphogenesis, Novel aristaless, Novel gene, Other genes, Partington syndrome, Phenotype, Polyalanine, Polyalanine expansions, Polyalanine tract, Polyalanine tracts, Polyglutamine expansions, Primary cultures, Recherche medicale, Retardation, Santa clara, Score values, Sequencing, Sex linked character, Signal transduction pathways, Skeletal muscle, Small families, Small insertion, Spatial expression patterns, Sporadic case, Sporadic cases, Standard procedures, Syndrome, Syndromic forms, Telencephalon, Thalamus, Unpublished family, Ventral, Ventral thalamus, Ventricular zone, West syndrome, X-Chromosome, Xlmr.
• Teeft :
  • Abnormal dhplc, Adult brain, Adult stages, Amino, Amino acid change, Amino acid residues, Amino acid sequence, Aristaless, Cellular processes, Cerebellum, Cerebral cortex, Coding exons, Coding sequences, Cognitive development, Cortical plate, Critical region, Dhplc, Different databases, Different stages, Direct sequencing, Drosophila, Drosophila melanogaster, Embryo, Exon, Expression level, Family family, Family members, Fetal, Fetal brain, Functional domains, Genbank accession numbers, Gene, Genet, Genetic interval, Genetic intervals, Genetics, Glial cells, High level, Hippocampus, Homeobox gene, Homeodomain, Homeodomain proteins, Human genetics, Hybridization, Hybridization analysis, Institut cochin, Intermediate zone, Linkage analysis, Lymphoblastoid cell lines, Marginal zone, Mental retardation, Missense, Missense mutation, Missense mutations, Molecular genetics, Monogenic causes, Mouse embryos, Mrna, Mutation, Nature genet, Nervous system, Neuronal, Neuronal cells, Neuronal morphogenesis, Novel aristaless, Novel gene, Other genes, Partington syndrome, Phenotype, Polyalanine, Polyalanine expansions, Polyalanine tract, Polyalanine tracts, Polyglutamine expansions, Primary cultures, Recherche medicale, Retardation, Santa clara, Score values, Sequencing, Signal transduction pathways, Skeletal muscle, Small families, Small insertion, Spatial expression patterns, Sporadic case, Sporadic cases, Standard procedures, Syndrome, Syndromic forms, Telencephalon, Thalamus, Unpublished family, Ventral, Ventral thalamus, Ventricular zone, West syndrome, Xlmr.

Abstract

• https://api.istex.fr/document/1EB478F2230F6E5C7810AD20CDB072F793411A8B/fulltext/pdf

Affiliations:

• Allemagne, Australie, Belgique, France, Japon, Pays-Bas, Tunisie
• Berlin, Centre-Val de Loire, Gouvernorat de Tunis, Gueldre, Région Centre, Région de Kantō, Île-de-France
• Berlin, Nimègue, Paris, Tokyo, Tours, Tunis

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

• to stream Istex, to step Corpus: 000577
• to stream Istex, to step Curation: 000577
• to stream Istex, to step Checkpoint: 001C76
• to stream Main, to step Merge: 00C237
• to stream PascalFrancis, to step Corpus: 005705
• to stream PascalFrancis, to step Curation: 000A34
• to stream PascalFrancis, to step Checkpoint: 005553
• to stream Main, to step Merge: 00C674
• to stream Main, to step Curation: 00B446

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00B446 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00B446 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:1EB478F2230F6E5C7810AD20CDB072F793411A8B
   |texte=   ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
}}

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