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
Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity.
Zhang Y et al.
Molecular Metabolism, 2024
Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity.
Zhang Y et al.
Biorxiv : the Preprint Server for Biology, 2023
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
Cook TW et al.
Biomolecules, 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
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.
Ngoc CTB et al.
Frontiers in Endocrinology, 2022
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
Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population.
Fu J et al.
Journal of Diabetes Investigation, 2020
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
Inhibition of mTORC1 by ER stress impairs neonatal β-cell expansion and predisposes to diabetes in the Akita mouse.
Riahi Y et al.
Elife, 2018
Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes.
Balboa D et al.
Elife, 2018
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Ushijima K et al.
Pediatric Diabetes, 2018
Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.
Moritani M et al.
Pediatric Diabetes, 2013