De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome

Human Molecular Genetics

Volumn 25, Issue 3, 2016, Pages 597-608

  Srivastava, Anshika ^a   Ritesh, K C ^a   Tsan, Yao Chang ^a   Liao, Rosy ^a   Su, Fengyun ^b   Cao, Xuhong ^b   Hannibal, Mark C ^b   Keegan, Catherine E ^a,b   Chinnaiyan, Arul M ^b   Martin, Donna M ^a,b   Bielas, Stephanie L ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASXL3 PROTEIN; BAP1 PROTEIN; HISTONE H2A; HYDROLASE; PROTEIN; TRANSCRIPTOME; UNCLASSIFIED DRUG; ASXL3 PROTEIN, HUMAN; BAP1 PROTEIN, HUMAN; HISTONE; PROTEIN BINDING; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN THIOLESTERASE;

ALLELE; ARTICLE; BAINBRIDGE ROPERS SYNDROME; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMATIN; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE HYPOTONIA; NONSENSE MEDIATED MRNA DECAY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPEECH DELAY; DEVELOPMENTAL LANGUAGE DISORDER; DOMINANT GENE; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PRIMARY CELL CULTURE; SYNDROME; UBIQUITINATION;

CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FAILURE TO THRIVE; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENES, DOMINANT; HETEROZYGOTE; HISTONES; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MUTATION; PRIMARY CELL CULTURE; PROTEIN BINDING; SYNDROME; TRANSCRIPTION FACTORS; TRANSCRIPTOME; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UBIQUITINATION;

EID: 84960886761     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv499     Document Type: Article

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