Associated Papers
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
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
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.
Stirnimann CU et al.
Journal of Molecular Biology, 2010
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
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W et al.
Heart (british Cardiac Society), 2005
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
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM et al.
American Journal of Human Genetics, 2003
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
Fan C et al.
The Journal of Biological Chemistry, 2003
Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.
Fan C et al.
Journal of Medical Genetics, 2003