Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
Solorzano-Vargas RS et al.
Jci Insight, 2020
A Comprehensive Structure-Function Study of Neurogenin3 Disease-Causing Alleles during Human Pancreas and Intestinal Organoid Development.
Zhang X et al.
Developmental Cell, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.
Germán-Díaz M et al.
Pediatrics, 2017
Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S.
Ochi H et al.
Developmental Biology, 2017
Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.
Rubio-Cabezas O et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Dissecting Human Gene Functions Regulating Islet Development With Targeted Gene Transduction.
Pauerstein PT et al.
Diabetes, 2015
Neurogenin 3 is important but not essential for pancreatic islet development in humans.
Rubio-Cabezas O et al.
Diabetologia, 2014
Extremely rare cause of congenital diarrhea: enteric anendocrinosis.
Sayar E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.
Pinney SE et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.
Rubio-Cabezas O et al.
Diabetes, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutant neurogenin-3 in congenital malabsorptive diarrhea.
Jensen JN et al.
The New England Journal of Medicine, 2007
Mutant neurogenin-3 in congenital malabsorptive diarrhea.
Wang J et al.
The New England Journal of Medicine, 2006