ArticleCase reports in genetics2019
First Report of Diabetes Phenotype due to a Loss-of-Function
Article in Case reports in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.BMC endocrine disorders · 2021Pooled it
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Paradoxical glycemia in an adult withJCEM case reports · 2026Article
- Novel Phenotype due toEuropean journal of case reports in internal medicine · 2026Article
- Paradoxical Maturity-Onset Diabetes of the Young Arising From Loss-of-Function Mutations in ATP-Sensitive Potassium Channels.Diabetes · 2026Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.Diabetologia · 2024Article
- Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas.Nature communications · 2024Article
- The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.Journal of personalized medicine · 2023Article
- Adaptation to chronic ER stress enforces pancreatic β-cell plasticity.Nature communications · 2022Article
- A case report of Maturity-onset diabetes of the young 12: large fragment deletion inAnnals of translational medicine · 2022Article
- Update of variants identified in the pancreatic β-cell KHuman mutation · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the
Identifiers
What OpenQuestion holds
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.