Associated Papers
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
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
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population.
Geng Z et al.
Frontiers in Genetics, 2023
38164514 (PubMed )
Supplement: Table2.XLSX › results
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs
GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve.
Xu YJ et al.
Gene, 2018
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang X et al.
Molecular Medicine Reports, 2014
GATA6 loss-of-function mutation in atrial fibrillation.
Yang YQ et al.
European Journal of Medical Genetics, 2012
Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
Kodo K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
Identification of GATA6 sequence variants in patients with congenital heart defects.
Maitra M et al.
Pediatric Research, 2010
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Lin X et al.
Journal of Human Genetics, 2010
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.
Kodo K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Establishment and Characterization of 10 Human Pancreatic Cancer Cell Lines Including a HER2 Overexpressed Cell Line.
Kim SC et al.
Pancreas, 0
31688591 (PubMed )
Supplement: mpa-48-1285-s001.pdf
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