Transcription factor haploinsufficiency: When half a loaf is not enough

Journal of Clinical Investigation

Volumn 109, Issue 4, 2002, Pages 451-455

  Seidman, J G ^a,c   Seidman, Christine ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATRIAL NATRIURETIC FACTOR; CONNEXIN 40; DNA BINDING PROTEIN; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2 1; UNCLASSIFIED DRUG;

ALLELE; BINDING SITE; CLINICAL FEATURE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HAPLOINSUFFICIENCY DISORDER; HAPLOTYPE; HEART ATRIUM SEPTUM DEFECT; HOLT ORAM SYNDROME; HYPOTHYROIDISM; MOLECULAR GENETICS; NONSENSE MUTATION; NOTE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DNA INTERACTION; PROTEIN PROTEIN INTERACTION; THYROXINE BLOOD LEVEL; TRANSCRIPTION REGULATION; VELOCARDIOFACIAL SYNDROME; WAARDENBURG SYNDROME;

EID: 0036177862     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0215043     Document Type: Note

References (13)

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10. Targeted ablation of the murine alpha-tropomyosin gene
11. Tbx5 associates with Nkx25 and synergistically promotes cardiomyocyte differentiation