ReviewJournal of diabetes investigation2014
Many faces of monogenic diabetes.
Review in Journal of diabetes investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- A Systematic Review of Childhood Diabetes Research in the Middle East Region.Frontiers in endocrinology · 2019Pooled it
- Integrated Computational Analysis Reveals Structurally Destabilizing Missense Variants in theGenes · 2026Article
- Genetic variants and characterization of MODY in a single, large pediatric referral center.Journal of clinical & translational endocrinology · 2025Article
- Transcriptional coactivator MED15 is required for beta cell maturation.Nature communications · 2024Article
- cNPAS2 induced β cell dysfunction by regulating KANK1 expression in type 2 diabetes.World journal of diabetes · 2024Article
- Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study.Diabetology international · 2024Article
- Effect of SIRT1 gene single-nucleotide polymorphisms on susceptibility to type 1 diabetes in a Han Chinese population.Journal of endocrinological investigation · 2024Article
- Management of monogenic diabetes in pregnancy: A narrative review.World journal of diabetes · 2024Review
- Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report.BMC endocrine disorders · 2023Article
- Transcriptional changes and the role of ONECUT1 in hPSC pancreatic differentiation.Communications biology · 2021Article
- Article
- Case Report: HomozygousFrontiers in endocrinology · 2021Article
- Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants.Frontiers in endocrinology · 2021Review
- Overview of Atypical Diabetes.Endocrinology and metabolism clinics of North America · 2020Review
- The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY).Clinical diabetes and endocrinology · 2020Review
- Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.Annals of pediatric endocrinology & metabolism · 2019Article
- GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation.Stem cell reports · 2019Article
- Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.Diabetologia · 2018Article
- Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.BMC medical genetics · 2018Article
- Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic diabetes represents a heterogeneous group of disorders resulting from defects in single genes. Defects are categorized primarily into two groups: disruption of β-cell function or a reduction in the number of β-cells. A complex network of transcription factors control pancreas formation, and a dysfunction of regulators high in the hierarchy leads to pancreatic agenesis. Dysfunction among factors further downstream might cause organ hypoplasia, absence of islets of Langerhans or a reduction in the number of β-cells. Many transcription factors have pleiotropic effects, explaining the association of diabetes with other congenital malformations, including cerebellar agenesis and pituitary agenesis. Monogenic diabetes variants are classified conventionally according to age of onset, with neonatal diabetes occurring before the age of 6 months and maturity onset diabetes of the young (MODY) manifesting before the age of 25 years. Recently, certain familial genetic defects were shown to manifest as neonatal diabetes, MODY or even adult onset diabetes. Patients with neonatal diabetes require a thorough genetic work-up in any case, and because extensive phenotypic overlap exists between monogenic, type 2, and type 1 diabetes, genetic analysis will also help improve diagnosis in these cases. Next generation sequencing will facilitate rapid screening, leading to the discovery of digenic and oligogenic diabetes variants, and helping to improve our understanding of the genetics underlying other types of diabetes. An accurate diagnosis remains important, because it might lead to a change in the treatment of affected subjects and influence long-term complications.
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Registered trials
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.