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Article

Clinical and functional characterization of a novel KCNJ11 (c.101G > A, p.R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13.

Endocrine - 1 Nov 2024

Lv Xiaoyu, Gao Jing, Yang Jingwen, Zou Ying, Chen Jun, Sun Yujing, Song Jia, Liu Yiran, Wang Liming, Xia Longqing, Yu Shijia, Wei Zichun, Chen Li, Hou Xinguo

Abstract excerpt

PURPOSE: This study aimed to describe the clinical features, diagnostic and therapeutic course of a patient with MODY13 caused by KCNJ11 (c.101G > A, p.R34H) and how it contributes to the pathogenesis of MODY13, and to explore new therapeutic targets. METHODS: Whole-exome sequencing was used to screen prediagnosed individuals and family members with clinically suspected KCNJ11 mutations. Real-time fluorescence...

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Topics

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Share to Diabetes Mellitus, Type 2
Share to SNAP25 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to STXBP1 gene

Share to Insulin

Share to Insulin Secretion

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Share to Potassium Channels, Inwardly Rectifying

Source

Identifiers

PMID: 38761346
DOI: 10.1007/s12020-024-03873-6

Genes

KCNJ11
SNAP25
STXBP1

Variants

Provenance

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

Related research

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Clinical and functional characterization of a novel KCNJ11 (c.101G > A, p.R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13.PMID 38761346Read ↗

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Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.Semantic proximity Read ↗

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