Associated Papers
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
Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas.
Wright JJ et al.
Diabetes Care, 2023
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Effect of N-terminal region of nuclear Drosophila melanogaster small heat shock protein DmHsp27 on function and quaternary structure.
Moutaoufik MT et al.
Plos One, 2017
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.
Piccini B et al.
European Journal of Medical Genetics, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
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
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
Binding specificity and mutational analysis of the phosphotyrosine binding domain of the brain-specific adaptor protein ShcC.
O'Bryan JP et al.
The Journal of Biological Chemistry, 1996