Associated Papers
Maturity-Onset Diabetes of the Young 10 (MODY10): A Comprehensive Review of Genetics, Clinical Features, and Therapeutic Advances.
Mazloum A et al.
International Journal of Molecular Sciences, 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
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
Cook TW et al.
Biomolecules, 2023
UDP-glucose, cereblon-dependent proinsulin degrader.
Cho J et al.
Scientific Reports, 2022
Identification of additional outer segment targeting signals in zebrafish rod opsin.
Fang X et al.
Journal of Cell Science, 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
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
Transgenic zebrafish model of the C43G human insulin gene mutation.
Eames SC et al.
Journal of Diabetes Investigation, 2013
[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
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus.
Aycan Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.
Liu M et al.
Trends in Endocrinology and Metabolism: Tem, 2010
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
Unfolding the mechanisms of disease progression in permanent neonatal diabetes.
Dhanvantari S
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