ArticleISRN pediatrics2011
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Article in ISRN pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- MODY: Strategies for a unique form of diabetes.Journal of education and health promotion · 2025Review
- Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.Journal of personalized medicine · 2022Review
- The Human Islet: Mini-Organ With Mega-Impact.Endocrine reviews · 2021Review
- A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.Life (Basel, Switzerland) · 2021Article
- Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.Frontiers in endocrinology · 2021Article
- Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.Oman medical journal · 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
- Precision medicine in diabetes prevention, classification and management.Journal of diabetes investigation · 2018Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We report here a three-generation nonobese family diagnosed with diabetes. All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values. Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine(330) TTC → serine (TCC)/p.Phe330Ser/F330S substitution.
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.