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Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.

Pediatric diabetes - 1 Jan 2025

Zhang Juan-Juan, Dai Tong-Tong, Wang Jun-Qi, Yin Ming-Yue, Yang Yuan-Yan, Jiang Li, Xia Bei-Jun, Cui Zhuo-Zhou, Lu Wen-Li, Hu Rong-Gui, Li Chuan-Yin, Dong Zhi-Ya, Xiao Yuan

Abstract excerpt

Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three WFS1-associated cases were evaluated. The expression of WFS1, viability, and endoplasmic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40777921
DOI: 10.1155/pedi/9955995
PMCID: PMC12331406

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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