Associated Papers
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf
Progressive endoplasmic reticulum stress over time due to human insulin gene mutation contributes to pancreatic beta cell dysfunction.
Amirruddin NS et al.
Diabetologia, 2021
Discoveries in Pancreatic Physiology and Disease Biology Using Single-Cell RNA Sequencing.
Fu H et al.
Frontiers in Cell and Developmental Biology, 2021
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.
Krentz NAJ et al.
Nature Reviews. Endocrinology, 2020
Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research.
Hu M et al.
Frontiers in Endocrinology, 2020
Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes.
Balboa D et al.
Elife, 2018
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.
Bee YM et al.
Pediatric Diabetes, 2014
Neonatal Diabetes in a Singapore Children's Hospital: Molecular Diagnoses of Four Cases.
Vasanwala RF et al.
Annals of the Academy of Medicine, Singapore, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
24411943 (PubMed )
Supplement: mmc1.pdf
Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young.
Hinokio Y et al.
Diabetes, 2000
Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.
Al Homyani DK et al.
Aace Clinical Case Reports, 0
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