Associated Papers
Structural Communication Between C-Peptide and Insulin Within the Proinsulin Molecule.
Shao R et al.
International Journal of Molecular Sciences, 2026
Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.
Ding Y et al.
Pediatric Diabetes, 2025
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders.
Woike D et al.
Scientific Reports, 2022
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Firdous P et al.
Frontiers in Endocrinology, 2018
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
Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young.
Dusatkova L et al.
European Journal of Medical Genetics, 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
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
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE et al.
American Journal of Human Genetics, 1998
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0