Associated Papers
HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.
Chen Y et al.
Diabetes & Metabolism, 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
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Molecular puzzle of insulin: structural assembly pathways and their role in diabetes.
Urbaniak E et al.
Frontiers in Cell and Developmental Biology, 2025
Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.
Guo X et al.
Frontiers in Neuroscience, 2025
Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.
Ruiz-Urbaez R et al.
Frontiers in Medicine, 2025
Diabetic Nephropathy, Retinopathy, and Functional Hypogonadism in a Patient with MODY10: A Case Report.
Ruiz-Urbaez R et al.
Medicina (kaunas, Lithuania), 2024
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 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
Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.
Son RG et al.
Journal of the Endocrine Society, 2023
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.
Ngoc CTB et al.
Frontiers in Endocrinology, 2022
Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population.
Gopi S et al.
Journal of Diabetes and Its Complications, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Tosur M et al.
Pediatric Diabetes, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Structural Lessons From the Mutant Proinsulin Syndrome.
Dhayalan B et al.
Frontiers in Endocrinology, 2021
Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.
Wang H et al.
Molecular and Cellular Endocrinology, 2020
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine, 2020
The KINGS Ins2 +/G32S Mouse: A Novel Model of β-Cell Endoplasmic Reticulum Stress and Human Diabetes.
Austin ALF et al.
Diabetes, 2020
Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life.
Demiral M et al.
Pediatric Diabetes, 2020
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 2020
Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population.
Fu J et al.
Journal of Diabetes Investigation, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Defective endoplasmic reticulum export causes proinsulin misfolding in pancreatic β cells.
Zhu R et al.
Molecular and Cellular Endocrinology, 2019
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.
Yu MG et al.
The Journal of Clinical Investigation, 2019
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
Urrutia I et al.
Plos One, 2019
Congenital forms of diabetes: the beta-cell and beyond.
Letourneau LR et al.
Current Opinion in Genetics & Development, 2018
Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.
Letourneau LR et al.
Journal of the Endocrine Society, 2018
Identification of insulin gene variants in neonatal diabetes.
Gohar NA et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
Wasserman H et al.
Pediatric Diabetes, 2016
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
Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.
Moritani M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.
Ortolani F et al.
Acta Diabetologica, 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
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
Globa E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
Jahnavi S et al.
Clinical Genetics, 2013
[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
Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.
Liu M et al.
Trends in Endocrinology and Metabolism: Tem, 2010
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
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
Rajan S et al.
American Journal of Physiology. Endocrinology and Metabolism, 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