Associated Papers
Molecular puzzle of insulin: structural assembly pathways and their role in diabetes.
Urbaniak E et al.
Frontiers in Cell and Developmental Biology, 2025
Exploring proinsulin proteostasis: insights into beta cell health and diabetes.
Zavarzadeh PG et al.
Frontiers in Molecular Biosciences, 2025
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
Systematic Assessment of Protein C-Termini Mutated in Human Disorders.
FitzHugh ZT et al.
Biomolecules, 2023
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
Cook TW et al.
Biomolecules, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Congenital forms of diabetes: the beta-cell and beyond.
Letourneau LR et al.
Current Opinion in Genetics & Development, 2018
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
[Insulin gene mutations].
Nishi M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
Insulin gene mutations and diabetes.
Nishi M et al.
Journal of Diabetes Investigation, 2011
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Støy J et al.
Reviews in Endocrine & Metabolic Disorders, 2010
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
Rajan S et al.
American Journal of Physiology. Endocrinology and Metabolism, 2010
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Park SY et al.
Biochemical and Biophysical Research Communications, 2010
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill EL et al.
Diabetes, 2008
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A et al.
Diabetes, 2008
Insulin gene mutations as a cause of permanent neonatal diabetes.
Støy J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
Barrio R et al.
The Journal of Clinical Endocrinology and Metabolism, 2002