Associated Papers
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Bersell KR et al.
Circulation, 2023
Post-Transcriptional Modification by Alternative Splicing and Pathogenic Splicing Variants in Cardiovascular Development and Congenital Heart Defects.
Mehta Z et al.
International Journal of Molecular Sciences, 2023
Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.
Mahfuz AMUB et al.
Biochemistry and Biophysics Reports, 2021
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
TBX5: A Key Regulator of Heart Development.
Steimle JD et al.
Current Topics in Developmental Biology, 2017
T-box family of transcription factor-TBX5, insights in development and disease.
Zhu T et al.
American Journal of Translational Research, 2017
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
Dreßen M et al.
Molecular Genetics & Genomic Medicine, 2016
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
Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression.
Fischer K et al.
Frontiers in Oncology, 2015
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
Patel C et al.
European Journal of Human Genetics : Ejhg, 2012
Synergistic activation of cardiac genes by myocardin and Tbx5.
Wang C et al.
Plos One, 2011
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ et al.
Cardiovascular Research, 2010
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
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
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.
Sen A et al.
Molecular Genetics and Genomics : Mgg, 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
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV et al.
Circulation Research, 2008
T-box factors determine cardiac design.
Hoogaars WM et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Using the TBX5 transcription factor to grow and sculpt the heart.
Hatcher CJ et al.
American Journal of Medical Genetics. Part A, 2006
Congenital heart diseases in small animals: part I. Genetic pathways and potential candidate genes.
Hyun C et al.
Veterinary Journal (london, England : 1997), 2006
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
Koshiba-Takeuchi K et al.
Nature Genetics, 2006
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W et al.
Heart (british Cardiac Society), 2005
T-box genes and congenital heart/limb malformations.
Isphording D et al.
Clinical Genetics, 2004
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
TBX5 nuclear localization is mediated by dual cooperative intramolecular signals.
Collavoli A et al.
Journal of Molecular and Cellular Cardiology, 2003
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
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.
Coll M et al.
Structure (london, England : 1993), 2002
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.
Ghosh TK et al.
Human Molecular Genetics, 2001
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.
Hiroi Y et al.
Nature Genetics, 2001
Genetic basis of syndromes associated with congenital heart disease.
Gelb BD
Current Opinion in Cardiology, 2001
TBX5 transcription factor regulates cell proliferation during cardiogenesis.
Hatcher CJ et al.
Developmental Biology, 2001
[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
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson CT et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
Opposite imbalances of distal 14q in two unrelated patients.
Rivera H et al.
Annales De Genetique, 1992