Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.
Sadakierska-Chudy A et al.
International Urogynecology Journal, 2025
Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene.
Laugesen K et al.
Jcem Case Reports, 2024
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 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
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
How do I diagnose Maturity Onset Diabetes of the Young in my patients?
Colclough K et al.
Clinical Endocrinology, 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
Predisposition to Proinsulin Misfolding as a Genetic Risk to Diet-Induced Diabetes.
Alam M et al.
Diabetes, 2021
In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Støy J et al.
Molecular Metabolism, 2021
Glycemic Impact of Metformin in Diabetes Caused by Heterozygous Insulin Gene Mutation R46Q.
Riar SS et al.
Canadian Journal of Diabetes, 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
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine, 2020
UGGT1 retains proinsulin in the endoplasmic reticulum in an arginine dependent manner.
Cho J et al.
Biochemical and Biophysical Research Communications, 2020
Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children.
Xu A et al.
Pediatric Diabetes, 2020
Misfolded proinsulin in the endoplasmic reticulum during development of beta cell failure in diabetes.
Arunagiri A et al.
Annals of the New York Academy of Sciences, 2018
In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin).
Støy J et al.
Diabetologia, 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
Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.
Křížková K et al.
Plos One, 2014
[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
[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
Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.
Liu M et al.
Trends in Endocrinology and Metabolism: Tem, 2010
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