Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

eLife

Volumn 2013, Issue 2, 2013, Pages

  Yu, Tian ^a   Meiners, Linda C ^b   Danielsen, Katrin ^a,e   Wong, Monica T Y ^b   Bowler, Timothy ^c   Reinberg, Danny ^d   Scambler, Peter J ^e   van Ravenswaaij Arts, Conny M A ^b   Albert Basson, M ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c MONTEFIORE MEDICAL CENTER   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ETV5; TRANSCRIPTION FACTOR GBX2; TRANSCRIPTION FACTOR OTX2; UNCLASSIFIED DRUG; CHD7 PROTEIN, HUMAN; CHD7 PROTEIN, MOUSE; DNA BINDING PROTEIN; DNA HELICASE; FGF8 PROTEIN, MOUSE; GBX2 PROTEIN, MOUSE; HOMEODOMAIN PROTEIN; OTX2 PROTEIN, MOUSE; TRANSCRIPTION FACTOR OTX;

ADOLESCENT; ALLELE; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHD7 GENE; CHILD; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; IN SITU HYBRIDIZATION; INFANT; MALE; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIGNAL TRANSDUCTION; SYNDROME CHARGE; ABNORMALITIES; ANIMAL; C57BL MOUSE; DBA MOUSE; DEFICIENCY; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; HAPLOINSUFFICIENCY; KNOCKOUT MOUSE; METABOLISM; MUTATION; PATHOLOGY; PHENOTYPE;

ANIMALS; CEREBELLAR VERMIS; CHARGE SYNDROME; DISEASE MODELS, ANIMAL; DNA HELICASES; DNA-BINDING PROTEINS; FIBROBLAST GROWTH FACTOR 8; GENE EXPRESSION REGULATION; GENOTYPE; HAPLOINSUFFICIENCY; HOMEODOMAIN PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MICE, INBRED C57BL; MICE, INBRED DBA; MICE, KNOCKOUT; MUTATION; OTX TRANSCRIPTION FACTORS; PHENOTYPE;

EID: 84891517916     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.01305     Document Type: Article

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