ArticleJournal of diabetes investigation2021
A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
Article in Journal of diabetes investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- A retinoic acid-Rfx6 cascade modulates Wnt/Bmp-dependent gut tube patterning: insight into the molecular basis of Mitchell-Riley Syndrome.Development (Cambridge, England) · 2026Article
- RFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.Diabetology international · 2026Review
- RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.Endocrinology, diabetes & metabolism case reports · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- RFX3 is essential for the generation of functional human pancreatic islets from stem cells.Diabetologia · 2025Article
- Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent.Acta diabetologica · 2025Article
- Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.International journal of molecular sciences · 2025Article
- Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1Diabetologia · 2024Article
- Initial clinical manifestations in a young male withClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.International journal of molecular sciences · 2024Review
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.Diabetologia · 2024Article
- Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes andJournal of clinical research in pediatric endocrinology · 2024Article
- The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.International journal of molecular sciences · 2022Article
- A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.Journal of diabetes investigation · 2021Article
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
Abstract
Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.
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