Associated Papers
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
The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.
Sechko EA et al.
International Journal of Molecular Sciences, 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
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
33054971 (PubMed )
Supplement: elife-53278-supp1.xlsx › 1B._Unique___Recurrent_Variants
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
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
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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