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
Maturity-Onset Diabetes of the Young 10 (MODY10): A Comprehensive Review of Genetics, Clinical Features, and Therapeutic Advances.
Mazloum A et al.
International Journal of Molecular Sciences, 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
Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.
Asgarian S et al.
Scientific Reports, 2024
Loss of Preproinsulin Interaction with Signal Recognition Particle Activates Protein Quality Control, Decreasing mRNA Stability.
Miller SC et al.
Journal of Molecular Biology, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Støy J et al.
Molecular Metabolism, 2021
A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum.
Yang Y et al.
Frontiers in Endocrinology, 2021
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine, 2020
Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family.
Zhang J et al.
Molecular and Cellular Biochemistry, 2020
Biosynthesis, structure, and folding of the insulin precursor protein.
Liu M et al.
Diabetes, Obesity & Metabolism, 2018
Positive charge in the n-region of the signal peptide contributes to efficient post-translational translocation of small secretory preproteins.
Guo H et al.
The Journal of Biological Chemistry, 2018
Positive zip coding in small protein translocation.
Okamoto Y et al.
The Journal of Biological Chemistry, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 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
Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex.
Braunstein I et al.
Molecular Biology of the Cell, 2015
A family with permanent neonatal diabetes due to a novel mutation in INS gene.
Dimova R et al.
Diabetes Research and Clinical Practice, 2015
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
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
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 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
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean population.
Cha SH et al.
Journal of Hypertension, 2007
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002