Associated Papers
HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.
Chen Y et al.
Diabetes & Metabolism, 2026
Molecular puzzle of insulin: structural assembly pathways and their role in diabetes.
Urbaniak E et al.
Frontiers in Cell and Developmental Biology, 2025
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Harsunen M et al.
Diabetologia, 2023
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 2023
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
UDP-glucose, cereblon-dependent proinsulin degrader.
Cho J et al.
Scientific Reports, 2022
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Tosur M et al.
Pediatric Diabetes, 2021
In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Støy J et al.
Molecular Metabolism, 2021
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.
Wasim M et al.
Biochemical 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
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
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.
Irgens HU et al.
Diabetologia, 2013
[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].
Di Benedetto M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2013
Estimating the contributions of rare and common genetic variations and clinical measures to a model trait: adiponectin.
An SS et al.
Genetic Epidemiology, 2013
[Insulin gene mutations].
Nishi M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
Vaxillaire M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2012
Insulin gene mutations and diabetes.
Nishi M et al.
Journal of Diabetes Investigation, 2011
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
Boesgaard TW et al.
Bmc Medical Genetics, 2010
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.
Meur G et al.
Diabetes, 2010
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A et al.
Diabetes, 2008
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002