Associated Papers
Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.
Rivera-Madera A et al.
G3 (bethesda, Md.), 2025
Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.
Rivera-Madera A et al.
Biorxiv : the Preprint Server for Biology, 2025
Integrated genomic analysis identifies novel low-frequency cis-regulatory variant rs2279658 associated with VSD risk in Chinese children.
Jin L et al.
Frontiers in Cell and Developmental Biology, 2022
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
Darwich R et al.
Human Molecular Genetics, 2017
The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
Waldron L et al.
Developmental Cell, 2016
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Al-Qattan MM et al.
Saudi Medical Journal, 2015
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM et al.
Gene, 2015
Synergistic activation of cardiac genes by myocardin and Tbx5.
Wang C et al.
Plos One, 2011
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.
Fan C et al.
The Journal of Biological Chemistry, 2009
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
Böhm J et al.
Bmc Medical Genetics, 2008
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
Koshiba-Takeuchi K et al.
Nature Genetics, 2006
A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.
Murakami M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
Reamon-Buettner SM et al.
Human Mutation, 2004
TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
Mori AD et al.
Current Opinion in Cardiology, 2004
Identification of the TBX5 transactivating domain and the nuclear localization signal.
Zaragoza MV et al.
Gene, 2004
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
Fan C et al.
The Journal of Biological Chemistry, 2003
[TBX5 mutation in Chinese patients with Holt-Oram syndrome].
Yang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
Yang J et al.
American Journal of Medical Genetics, 2000