Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469.
Nomura Y et al.
Journal of Cardiology Cases, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
Yamoto K et al.
Congenital Anomalies, 2024
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 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
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
Patterson J et al.
American Journal of Medical Genetics. Part A, 2020
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C et al.
European Journal of Human Genetics : Ejhg, 2019
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
Darwich R et al.
Human Molecular Genetics, 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
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
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
Novel TBX5 mutations in patients with Holt-Oram syndrome.
Debeer P et al.
Clinical Orthopaedics and Related Research, 2007
Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching YH et al.
Nature Genetics, 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
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 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
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
Basson CT et al.
Nature Genetics, 1997
Opposite imbalances of distal 14q in two unrelated patients.
Rivera H et al.
Annales De Genetique, 1992