Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Unraveling C‑Peptide's Role in MIDY: A Structural Perspective.
Ranganathan S et al.
Acs Omega, 2026
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
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
A Novel INS Mutation in the C-Peptide Region Causing Hyperproinsulinemic Maturity Onset Diabetes of Youth Type 10.
Schlegel A et al.
Laboratory Medicine, 2023
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
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review.
Bairqdar A et al.
Journal of Personalized Medicine, 2023
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
Cook TW et al.
Biomolecules, 2023
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.
Abdelmeguid Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2022
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
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Distinct states of proinsulin misfolding in MIDY.
Haataja L et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine, 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
Defective endoplasmic reticulum export causes proinsulin misfolding in pancreatic β cells.
Zhu R et al.
Molecular and Cellular Endocrinology, 2019
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Ushijima K et al.
Pediatric Diabetes, 2018
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.
Jain V et al.
Indian Pediatrics, 2017
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
Delvecchio M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
A Bystander Mechanism Explains the Specific Phenotype of a Broadly Expressed Misfolded Protein.
Klabonski L et al.
Plos 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
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Kanakatti Shankar R et al.
Pediatric Diabetes, 2013
Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.
Moritani M et al.
Pediatric Diabetes, 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
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation.
Fredheim S et al.
Case Reports in Genetics, 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
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
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
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
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.
Rubio-Cabezas O et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2009
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
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Polak M et al.
Diabetes, 2008
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A et al.
Diabetes, 2008