Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.

Diabetologia - 1 Aug 2024

Ibrahim Hazem, Balboa Diego, Saarimäki-Vire Jonna, Montaser Hossam, Dyachok Oleg, Lund Per-Eric, Omar-Hmeadi Muhmmad, Kvist Jouni, Dwivedi Om P, Lithovius Väinö, Barsby Tom, Chandra Vikash, Eurola Solja, Ustinov Jarkko, Tuomi Tiinamaija, Miettinen Päivi J, Barg Sebastian, Tengholm Anders, Otonkoski Timo

Abstract excerpt

AIMS/HYPOTHESIS: Regulatory factor X 6 (RFX6) is crucial for pancreatic endocrine development and differentiation. The RFX6 variant p.His293LeufsTer7 is significantly enriched in the Finnish population, with almost 1:250 individuals as a carrier. Importantly, the FinnGen study indicates a high predisposition for heterozygous carriers to develop type 2 and gestational diabetes. However, the precise mechanism of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basic Helix-Loop-Helix Transcription Factors
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Insulin-Secreting Cells

Share to Mice, Inbred NOD

Share to Mice, SCID

Share to Nerve Tissue Proteins

Share to Regulatory Factor X Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 38743124
DOI: 10.1007/s00125-024-06163-y
PMCID: PMC11343796

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.PMID 38743124Read ↗

<i>RFX6</i> haploinsufficiency predisposes to diabetes through impaired beta cell functionalitySemantic proximity Read ↗

Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1+/NKX6.1+ progenitorsSemantic proximity Read ↗

RFX6 Maintains Gene Expression and Function of Adult Human Islet α-CellsSemantic proximity Read ↗

RFX3 is essential for the generation of functional human pancreatic islets from stem cellsSemantic proximity Read ↗

RFX3 is essential for the development and maturation of human pancreatic islets derived from pluripotent stem cellsSemantic proximity Read ↗

Rfx6 Maintains the Functional Identity of Adult Pancreatic β CellsSemantic proximity Read ↗

The dual role of RFX6 in directing β cell development and insulin production.Semantic proximity Read ↗

Human iPSC-based modeling reveals coding and non-coding transcriptomic alterations associated with RFX3 deficiency in pancreatic isletsSemantic proximity Read ↗

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β CellsSemantic proximity Read ↗

Genome Editing of Lineage Determinants in Human Pluripotent Stem Cells Reveals Mechanisms of Pancreatic Development and Diabetes.Semantic proximity Read ↗

RFX6-mediated dysregulation defines human β cell dysfunction in early type 2 diabetesSemantic proximity Read ↗

Genetic risk converges on regulatory networks mediating early type 2 diabetes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.