Associated Papers
A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.
Tong Y et al.
Embo Molecular Medicine, 2026
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.
Chua C et al.
Jcem Case Reports, 2025
Loss of Preproinsulin Interaction with Signal Recognition Particle Activates Protein Quality Control, Decreasing mRNA Stability.
Miller SC et al.
Journal of Molecular Biology, 2024
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine, 2020
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
Positive zip coding in small protein translocation.
Okamoto Y et al.
The Journal of Biological Chemistry, 2018
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
Doddabelavangala Mruthyunjaya M et al.
Plos One, 2017
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
Inefficient translocation of preproinsulin contributes to pancreatic β cell failure and late-onset diabetes.
Guo H et al.
The Journal of Biological Chemistry, 2014
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
Permanent neonatal diabetes due to a novel insulin signal peptide mutation.
Hussain S et al.
Pediatric Diabetes, 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
[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
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Støy J et al.
Reviews in Endocrine & Metabolic Disorders, 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
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Variant forms of immunoreactive thyrotropin in aged rats.
Choy VJ et al.
Mechanisms of Ageing and Development, 1982