Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.
Chang Y et al.
Journal of Medical Genetics, 2024
Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.
Taha M et al.
Gene, 2023
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C et al.
Journal of the American College of Cardiology, 2018
Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis.
Kennedy L et al.
Plos Genetics, 2017
TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.
Huang RT et al.
International Journal of Medical Sciences, 2017
A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect.
Zhou YM et al.
Molecular Medicine Reports, 2016
TBX20 loss-of-function mutation contributes to double outlet right ventricle.
Pan Y et al.
International Journal of Molecular Medicine, 2015
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
Liu JJ et al.
Journal of Zhejiang University. Science. B, 2014
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch MG et al.
Journal of Medical Genetics, 2010
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Kirk EP et al.
American Journal of Human Genetics, 2007
T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.
Liu C et al.
European Journal of Medical Genetics, 0
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