ArticleNature communications2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.BMC endocrine disorders · 2021Pooled it
- 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
- Article
- RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.Endocrinology, diabetes & metabolism case reports · 2026Article
- Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.Frontiers in endocrinology · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- IL-1β priming triggers an adaptive stress response that enhances pancreatic β-cell resilience to subsequent cytotoxic inflammatory insult.Cell death & disease · 2025Article
- Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.European journal of endocrinology · 2025Review
- Integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D-associated genes and regulatory signals.Cell reports · 2025Article
- Physiology and clinical applications of GIP.Endocrine journal · 2025Review
- Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.Chinese medical journal · 2025Article
- Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.Journal of diabetes · 2025Review
- 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
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
- Why all MODY variants in transcription factor genes are dominantly inherited.Frontiers in genetics · 2025Article
- RFX6 heterozygous frame-shift variation causes maturity-onset diabetes mellitus of the young (MODY) with refractory hyperlipidemia: a case report.AME case reports · 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
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 5 countries.
Funding
Abstract
Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants. RFX6 protein truncating variants are enriched in the MODY discovery cohort compared to the European control population within ExAC (odds ratio = 131, P = 1 × 10
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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.