ReviewFrontiers in endocrinology2018
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Review in Frontiers in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 2 of them syntheses that pooled it.
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Who cites it
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.Journal of diabetes · 2024Pooled it
- The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.Frontiers in endocrinology · 2022Pooled it
- Clinical and functional characteristics of theFrontiers in endocrinology · 2026Article
- Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A.BMJ case reports · 2025Article
- Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance ofJournal of clinical research in pediatric endocrinology · 2025Article
- Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.Irish journal of medical science · 2025Article
- Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene.Endocrinology, diabetes & metabolism case reports · 2025Article
- In Silico Analysis Identified Putative Pathogenic Missense Single Nucleotide Polymorphisms (SNPs) in the HumanInternational journal of molecular sciences · 2025Article
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.JCEM case reports · 2025Article
- Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.Acta diabetologica · 2024Article
- The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.International journal of molecular sciences · 2024Article
- A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied.The application of clinical genetics · 2024Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.Clinical medicine insights. Endocrinology and diabetes · 2024Article
- Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.Frontiers in endocrinology · 2024Article
- Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.Journal of molecular cell biology · 2023Article
- Purtscher-like retinopathy in a 19-year-old with maturity-onset diabetes of the young: a case report.Journal of medical case reports · 2023Article
- HNF1A regulates oxaliplatin resistance in pancreatic cancer by targeting 53BP1.International journal of oncology · 2023Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diabetes is a global epidemic problem growing exponentially in Asian countries posing a serious threat. Among diabetes, maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic disorders that occurs due to β cell dysfunction. Genetic defects in the pancreatic β-cells result in the decrease of insulin production required for glucose utilization thereby lead to early-onset diabetes (often <25 years). It is generally considered as non-insulin dependent form of diabetes and comprises of 1-5% of total diabetes. Till date, 14 genes have been identified and mutation in them may lead to MODY. Different genetic testing methodologies like linkage analysis, restriction fragment length polymorphism, and DNA sequencing are used for the accurate and correct investigation of gene mutations associated with MODY. The next-generation sequencing has emerged as one of the most promising and effective tools to identify novel mutated genes related to MODY. Diagnosis of MODY is mainly relying on the sequential screening of the three marker genes like hepatocyte nuclear factor 1 alpha (HNF1α), hepatocyte nuclear factor 4 alpha (HNF4α), and glucokinase (GCK). Interestingly, MODY patients can be managed by diet alone for many years and may also require minimal doses of sulfonylureas. The primary objective of this article is to provide a review on current status of MODY, its prevalence, genetic testing/diagnosis, possible treatment, and future perspective.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.