Associated Papers
Comprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.
Hidayat T et al.
Narra J, 2024
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.
Dong J et al.
Journal of Ovarian Research, 2024
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Monogenic basis of young-onset cryptogenic stroke: a multicenter study.
Yuan WZ et al.
Annals of Translational Medicine, 2022
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.
Williams SG et al.
Journal of Human Genetics, 2022
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.
Lu F et al.
Orphanet Journal of Rare Diseases, 2022
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
Ma M et al.
Bmc Cardiovascular Disorders, 2021
Molecular pathogenesis of hereditary lung cancer: a literature review.
Rammal S et al.
Pharmacogenomics, 2021
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients.
Wu B et al.
Heart and Vessels, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine.
Tong Z et al.
Bmc Medical Genomics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.
Whitcomb J et al.
Iubmb Life, 2020
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.
Hata Y et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2019
Genomic profiling of synchronous triple primary tumors of the lung, thyroid and kidney in a young female patient: A case report.
Peng L et al.
Oncology Letters, 2018
SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.
Mei Z et al.
Bmc Cancer, 2018
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Hauser NS et al.
Molecular Genetics & Genomic Medicine, 2018
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.
Zhang E et al.
Gene, 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
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang X et al.
Molecular Medicine Reports, 2014
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.
Suzuki S et al.
American Journal of Medical Genetics. Part A, 2014
Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.
Huang RT et al.
International Journal of Molecular Medicine, 2013
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.
Wang J et al.
Dna and Cell Biology, 2012
[Identification of novel mutations in GATA6 gene associated with tetralogy of Fallot].
Zheng GF et al.
Zhonghua Yi Xue Za Zhi, 2012
A novel GATA6 mutation associated with congenital ventricular septal defect.
Zheng GF et al.
International Journal of Molecular Medicine, 2012
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Lin X et al.
Journal of Human Genetics, 2010
GATA transcription factors in congenital heart defects: a commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Kodo K et al.
Journal of Human Genetics, 2010
[Genetic screening for novel GATA4 mutations associated with congenital atrial septal defect].
Wang J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010