ArticleDevelopmental biology2011
Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
Article in Developmental biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed, 41 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
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1Diabetologia · 2024Article
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- RFX6 regulates human intestinal patterning and function upstream of PDX1.Development (Cambridge, England) · 2024Article
- HumanPNAS nexus · 2024Article
- Article
- Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.Frontiers in endocrinology · 2022Article
- Taiji-reprogram: a framework to uncover cell-type specific regulators and predict cellular reprogramming cocktails.NAR genomics and bioinformatics · 2021Article
- 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
- Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production.Molecular metabolism · 2019Article
- Expanding the genetic toolkit in Xenopus: Approaches and opportunities for human disease modeling.Developmental biology · 2017Review
- Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis.Developmental biology · 2017Article
- The combined effect of PDX1, epidermal growth factor and poly-L-ornithine on human amnion epithelial cells' differentiation.BMC developmental biology · 2016Article
- Xenopus as a Model for GI/Pancreas Disease.Current pathobiology reports · 2015Article
- Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.Case reports in genetics · 2015Article
- Rfx6 maintains the functional identity of adult pancreatic β cells.Cell reports · 2014Article
- Impact of high-fat feeding on basic helix-loop-helix transcription factors controlling enteroendocrine cell differentiation.International journal of obesity (2005) · 2014Article
- Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects. To better define the function of Rfx6 in early endoderm development we cloned the Xenopus homologue. Expression of rfx6 begins early, showing broad expression throughout the anterior endoderm; at later stages rfx6 expression becomes restricted to the endocrine cells of the gut and pancreas. Morpholino knockdown of rfx6 caused a loss of pancreas marker expression, as well as other abnormalities. Co-injection of exogenous wild-type rfx6 rescued the morpholino phenotype in Xenopus tadpoles, whereas attempts to rescue the loss-of-function phenotype using mutant rfx6 based on Mitchell-Riley patients were unsuccessful. To better define the pleiotropic effects, we performed microarray analyses of gene expression in knockdown foregut tissue. In addition to pancreatic defects, the microarray analyses revealed downregulation of lung, stomach and heart markers and an upregulation of kidney markers. We verified these results using RT-PCR and in situ hybridization. Based on the different rfx6 expression patterns and our functional analyses, we propose that rfx6 has both early and late functions. In early development Rfx6 plays a broad role, being essential for development of most anterior endodermal organs. At later stages however, Rfx6 function is restricted to endocrine cells.
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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.