Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations

Neurobiology of Disease

Volumn 45, Issue 3, 2012, Pages 913-922

  Howard, Monique L ^a   Palmer, Stephen J ^b   Taylor, Kylie M ^b   Arthurson, Geoffrey J ^b   Spitzer, Matthew W ^c   Du, Xin ^a   Pang, Terence Y C ^a   Renoir, Thibault ^a   Hardeman, Edna C ^b   Hannan, Anthony J ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

BEN; GTF3; Knockout; Mouse model; MusTRD1; Neurodevelopmental disorder; Ultrasound vocalisation; WBSCR11; Williams syndrome

Indexed keywords

CORTICOSTERONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GTF2IRD1; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; CONTROLLED STUDY; CORTICOSTERONE BLOOD LEVEL; DEVELOPMENTAL GENE; DYSPLASIA; EPIDERMIS HYPERPLASIA; FACE DISORDER; FACE DYSPLASIA; FEMALE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GTF2IRD1 GENE; HOMOZYGOSITY; LACZ GENE; MALE; MOTOR DYSFUNCTION; MOUSE; NONHUMAN; ONCOGENE C FOS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; STRESS; SYMPTOMATOLOGY; VOCALIZATION; WILLIAMS BEUREN SYNDROME;

ANALYSIS OF VARIANCE; ANIMALS; ANIMALS, NEWBORN; BODY TEMPERATURE; BODY WEIGHT; BRAIN; CIRCADIAN RHYTHM; CORTICOSTERONE; DISEASE MODELS, ANIMAL; EXPLORATORY BEHAVIOR; FATS; FEMALE; FOCAL EPITHELIAL HYPERPLASIA; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MOTOR SKILLS DISORDERS; MUSCLE PROTEINS; MUSCLE STRENGTH; MUSCLE, SKELETAL; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SEX FACTORS; SLEEP; SOUND SPECTROGRAPHY; STRESS, PSYCHOLOGICAL; SWIMMING; TRANS-ACTIVATORS; VOCALIZATION, ANIMAL; WILLIAMS SYNDROME;

EID: 84856561380     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.12.010     Document Type: Article

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