Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

American Journal of Human Genetics

Volumn 76, Issue 2, 2005, Pages 227-236

  Jensen, Lars Riff ^a   Amende, Marion ^a   Gurok, Ulf ^a   Moser, Bettina ^a   Gimmel, Verena ^a   Tzschach, Andreas ^a   Janecke, Andreas R ^b   Tariverdian, Gholamali ^c   Chelly, Jamel ^d   Fryns, Jean Pierre ^e   Van Esch, Hilde ^e   Kleefstra, Tjitske ^f   Hamel, Ben ^f   Moraine, Claude ^g   Gécz, Jozef ^h   Turner, Gillian ⁱ   Reinhardt, Richard ^a   Kalscheuer, Vera M ^a   Ropers, Hans Hilger ^a   Lenzner, Steffen ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d CHU Cochin ^*  (France)

^e Clinical Genetics Unit   (Belgium)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g CHU BRETONNEAU   (France)

^h UNIVERSITY OF ADELAIDE   (Australia)

ⁱ UNIVERSITY OF NEWCASTLE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HY ANTIGEN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR JARID1C; TRANSCRIPTION FACTOR JARID1D; UNCLASSIFIED DRUG;

ARTICLE; BRAIN FUNCTION; BRAIN TISSUE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CONTROLLED STUDY; DNA HYBRIDIZATION; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SKELETAL MUSCLE; STOP CODON; TRANSCRIPTION REGULATION; X CHROMOSOME LINKAGE; Y CHROMOSOME;

EID: 19944430270     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/427563     Document Type: Article

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