Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome
Open Access
- 1 March 2003
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 278 (10) , 8780-8785
- https://doi.org/10.1074/jbc.m208120200
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Combinatorial Expression of GATA4, Nkx2-5, and Serum Response Factor Directs Early Cardiac Gene ActivityPublished by Elsevier ,2002
- The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossiaNature Genetics, 2001
- A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and DiseaseCell, 2001
- Chamber-Specific Cardiac Expression of Tbx5 and Heart Defects in Holt–Oram SyndromeDevelopmental Biology, 1999
- Crystallographic structure of the T domain–DNA complex of the Brachyury transcription factorNature, 1997
- Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeNature Genetics, 1997
- Mutations in human cause limb and cardiac malformation in Holt-Oram syndromeNature Genetics, 1997
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyNature Genetics, 1997
- Holt-Oram syndrome: a clinical genetic study.Journal of Medical Genetics, 1996
- FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONSHeart, 1960