ArticleDiabetology & metabolic syndrome2021
A novel mutation KCNJ11 R136C caused KCNJ11-MODY.
Article in Diabetology & metabolic syndrome, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Novel Phenotype due toEuropean journal of case reports in internal medicine · 2026Article
- The crucial role of potassium ion channels in diabetes mellitus and its complications: A review.Channels (Austin, Tex.) · 2025Review
- Article
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.Molecules (Basel, Switzerland) · 2024Article
- A synonymousMolecular genetics and metabolism reports · 2024Article
- A Japanese school urine screening program led to the diagnosis ofClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn't carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious. KCNJ11 R136C can result in the change of channel port structure of K
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