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
Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.
Marcoux E et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Genetics of sinoatrial node function and heart rate disorders.
van der Maarel LE et al.
Disease Models & Mechanisms, 2023
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
An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility.
Bosada FM et al.
Elife, 2023
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF et al.
Circulation, 2022
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
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
T-box family of transcription factor-TBX5, insights in development and disease.
Zhu T et al.
American Journal of Translational Research, 2017
Inherited bradyarrhythmia: A diverse genetic background.
Ishikawa T et al.
Journal of Arrhythmia, 2016
TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Ma JF et al.
Cardiovascular Research, 2016
The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
Waldron L et al.
Developmental Cell, 2016
Common Variants in the TBX5 Gene Associated with Atrial Fibrillation in a Chinese Han Population.
Zhang R et al.
Plos One, 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
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
Developmental aspects of cardiac arrhythmogenesis.
Postma AV et al.
Cardiovascular Research, 2011
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ et al.
Cardiovascular Research, 2010
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV et al.
Circulation Research, 2008