ArticleCase reports in genetics2015
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.
Article in Case reports in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- 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
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- HumanPNAS nexus · 2024Article
- Exome sequencing findings in children with annular pancreas.Molecular genetics & genomic medicine · 2023Article
- Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.Frontiers in genetics · 2023Article
- Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.Frontiers in endocrinology · 2022Article
- Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.Orphanet journal of rare diseases · 2021Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Monogenic Diabetes Modeling:Frontiers in endocrinology · 2021Review
- Human stem cell models: lessons for pancreatic development and disease.Genes & development · 2019Review
- Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production.Molecular metabolism · 2019Article
- Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes.World journal of diabetes · 2019Article
- Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.Frontiers in pediatrics · 2019Article
- Annular pancreas in China: 9 years' experience from a single center.Pediatric surgery international · 2018Article
- A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association.Medicine · 2018Article
- Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.Nature communications · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
Identifiers
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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.