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
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
Yamoto K et al.
Congenital Anomalies, 2024
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
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Modeling human point mutation diseases in Xenopus tropicalis with a modified CRISPR/Cas9 system.
Shi Z et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C et al.
European Journal of Human Genetics : Ejhg, 2019
Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects.
Khatami M et al.
Journal of Cardiovascular and Thoracic Research, 2018
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
The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
Waldron L et al.
Developmental Cell, 2016
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
Jhang WK et al.
Cardiology in the Young, 2015
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Jia Y et al.
American Journal of Medical Genetics. Part A, 2015
Tbx5 and Osr1 interact to regulate posterior second heart field cell cycle progression for cardiac septation.
Zhou L et al.
Journal of Molecular and Cellular Cardiology, 2015
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
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
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
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
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
T-box factors determine cardiac design.
Hoogaars WM et al.
Cellular and Molecular Life Sciences : Cmls, 2007
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
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Reamon-Buettner SM et al.
Journal of Medical Genetics, 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
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
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
[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