TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 700-712

  Andreou, Artemisia M ^a,b   Pauws, Erwin ^a   Jones, Marius C ^b   Singh, Manvendra K ^c   Bussen, Markus ^c   Doudney, Kit ^a   Moore, Gudrun E ^a   Kispert, Andreas ^c   Brosens, Jan J ^b   Stanier, Philip ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SUMO 1 PROTEIN;

ALLELE; ARTICLE; CLEFT PALATE; CONTROLLED STUDY; DNA BINDING; ENVIRONMENTAL STRESS; GENE FUNCTION; GENE REPRESSION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN DNA INTERACTION; PROTEIN MODIFICATION; SUMOYLATION; T BOX TRANSCRIPTION FACTOR 22 GENE;

EID: 35349016254     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521033     Document Type: Article

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