Associated Papers
Structural Communication Between C-Peptide and Insulin Within the Proinsulin Molecule.
Shao R et al.
International Journal of Molecular Sciences, 2026
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
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 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
Association of several lipid-related gene polymorphisms and blood pressure variation in the Bai Ku Yao population.
Yin RX et al.
American Journal of Hypertension, 2012
[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
[Association of hepatic lipase gene promoter polymorphism -514C/T with nonalcoholic fatty liver disease].
Zhan Q et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2008
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
The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis.
Weikard R et al.
Physiological Genomics, 2005
[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
Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.
Palacio Rojas M et al.
F1000research, 0