MED23 mutation links intellectual disability to dysregulation of immediate early gene expression

Science

Volumn 333, Issue 6046, 2011, Pages 1161-1163

  Hashimoto, Satoru ^a   Boissel, Sarah ^b   Zarhrate, Mohammed ^b   Rio, Marlène ^b   Munnich, Arnold ^b   Egly, Jean Marc ^a   Colleaux, Laurence ^b  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 1; MEDIATOR COMPLEX; MEDIATOR SUBUNIT 23 PROTEIN; MITOGENIC AGENT; PROTEIN FOS; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ELK 1; UNCLASSIFIED DRUG;

BRAIN; COGNITION; DISABILITY; GENE EXPRESSION; MENTAL HEALTH; MUTATION; NEUROLOGY; PROTEIN; SERUM;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; GENE CONTROL; GENE DISRUPTION; GENE EXPRESSION; GENE INTERACTION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CELLS, CULTURED; CHROMATIN IMMUNOPRECIPITATION; EARLY GROWTH RESPONSE PROTEIN 1; ETS-DOMAIN PROTEIN ELK-1; FEMALE; GENE EXPRESSION REGULATION; GENES, FOS; GENES, IMMEDIATE-EARLY; GENES, JUN; HISTONES; HUMANS; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; MUTATION, MISSENSE; PEDIGREE; PROMOTER REGIONS, GENETIC; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

EID: 80052170163     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1206638     Document Type: Article

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