Associated Papers
Children with Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.
Denson AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
An animal model recapitulates human hepatic diseases associated with GATA6 mutations.
Shi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39739787 (PubMed )
Supplement: pnas.2317801121.sapp.pdf
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
Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X et al.
Molecular Biotechnology, 2024
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
Yasuhara J et al.
Pediatric Research, 2024
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
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
31006513 (PubMed )
Supplement: mmc1.pdf
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
Chao CS et al.
Plos One, 2015
25706805 (PubMed )
Supplement: pone.0118449.s001.pdf
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
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
De Franco E et al.
Diabetes, 2013
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL et al.
Nature Genetics, 2011
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