Associated Papers
From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes.
Kursawe R et al.
Annual Review of Genetics, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A Novel Immunodeficient Hyperglycemic Mouse Carrying the Ins1 Akita Mutation for Xenogeneic Islet Cell Transplantation.
Nakano K et al.
Transplantation, 2025
Molecular puzzle of insulin: structural assembly pathways and their role in diabetes.
Urbaniak E et al.
Frontiers in Cell and Developmental Biology, 2025
Monogenic diabetes: the role of mitochondrial dysfunction and endoplasmic reticulum stress.
Ozsu E
Frontiers in Clinical Diabetes and Healthcare, 2025
Multi-omic human pancreatic islet endoplasmic reticulum and cytokine stress response mapping provides type 2 diabetes genetic insights.
Sokolowski EK et al.
Cell Metabolism, 2024
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
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
Deletion of protein tyrosine phosphatase SHP-1 restores SUMOylation of podocin and reverses the progression of diabetic kidney disease.
Lizotte F et al.
Kidney International, 2023
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
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 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
Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.
Son RG et al.
Journal of the Endocrine Society, 2023
IER3IP1 is critical for maintaining glucose homeostasis through regulating the endoplasmic reticulum function and survival of β cells.
Yang J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
UDP-glucose, cereblon-dependent proinsulin degrader.
Cho J et al.
Scientific Reports, 2022
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
Identification of an endoplasmic reticulum proteostasis modulator that enhances insulin production in pancreatic β cells.
Miyake M et al.
Cell Chemical Biology, 2022
Insulin Null β-cells Have a Prohormone Processing Defect That Is Not Reversed by AAV Rescue of Proinsulin Expression.
Ramzy A et al.
Endocrinology, 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
Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population.
Gopi S et al.
Journal of Diabetes and Its Complications, 2021
Expression of Human Mutant Preproinsulins Induced Unfolded Protein Response, Gadd45 Expression, JAK-STAT Activation, and Growth Inhibition in Drosophila.
Yamazoe T et al.
International Journal of Molecular Sciences, 2021
Progressive endoplasmic reticulum stress over time due to human insulin gene mutation contributes to pancreatic beta cell dysfunction.
Amirruddin NS et al.
Diabetologia, 2021
In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Støy J et al.
Molecular Metabolism, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum.
Yang Y et al.
Frontiers in Endocrinology, 2021
Discoveries in Pancreatic Physiology and Disease Biology Using Single-Cell RNA Sequencing.
Fu H et al.
Frontiers in Cell and Developmental Biology, 2021
Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.
Wang H et al.
Molecular and Cellular Endocrinology, 2020
The KINGS Ins2 +/G32S Mouse: A Novel Model of β-Cell Endoplasmic Reticulum Stress and Human Diabetes.
Austin ALF et al.
Diabetes, 2020
Insulin2Q104del (Kuma) mutant mice develop diabetes with dominant inheritance.
Sakano D et al.
Scientific Reports, 2020
The Endoplasmic Reticulum and Calcium Homeostasis in Pancreatic Beta Cells.
Zhang IX et al.
Endocrinology, 2020
Newer perspective on the coupling between glucose-mediated signaling and β-cell functionality.
Shirakawa J et al.
Endocrine Journal, 2020
Targeted Gene Editing in Porcine Spermatogonia.
Webster D et al.
Frontiers in Genetics, 2020
Endoplasmic reticulum stress, degeneration of pancreatic islet β-cells, and therapeutic modulation of the unfolded protein response in diabetes.
Ghosh R et al.
Molecular Metabolism, 2019
Defective endoplasmic reticulum export causes proinsulin misfolding in pancreatic β cells.
Zhu R et al.
Molecular and Cellular Endocrinology, 2019
Engulfment and cell motility protein 1 potentiates diabetic cardiomyopathy via Rac-dependent and Rac-independent ROS production.
Kakoki M et al.
Jci Insight, 2019
High glucose-induced ubiquitination of G6PD leads to the injury of podocytes.
Wang M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Endoplasmic reticulum stress signalling - from basic mechanisms to clinical applications.
Almanza A et al.
The Febs Journal, 2019
Rapid and reliable identification of insulin 2 gene mutation in Akita diabetic mice by a tetra-primer-ARMS-PCR method.
Undi R et al.
Heliyon, 2019
Aging phenotype(s) in kidneys of diabetic mice are p66ShcA dependent.
Vashistha H et al.
American Journal of Physiology. Renal Physiology, 2018
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
Crosstalk Between the Unfolded Protein Response, MicroRNAs, and Insulin Signaling Pathways: In Search of Biomarkers for the Diagnosis and Treatment of Type 2 Diabetes.
Berry C et al.
Frontiers in Endocrinology, 2018
Emerging Roles for Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF) in Pancreatic Beta Cells and Diabetes.
Danilova T et al.
Frontiers in Physiology, 2018
ORAI channels are critical for receptor-mediated endocytosis of albumin.
Zeng B et al.
Nature Communications, 2017
Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.
Cnop M et al.
Molecular Metabolism, 2017