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Article

A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.

Biochemical and biophysical research communications - 3 Dec 2024

Chen Xin, Yang Chuanhui, Wei Qianying, Huang Mei, Wang Aiping, Zhang Mei

Abstract excerpt

Maturity onset diabetes of the young type 5(MODY5) is typically attributed to mutations in the HNF1B gene, which encodes transcription factors that play a significant role in kidney development and function maintenance. In this study, we identified a novel HNF1B gene mutation (c.445C > A) in a young male MODY5 patient exhibiting elevated serum creatinine levels and albuminuria. Through transfection of wild type...

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Identifiers

PMID: 39490151
DOI: 10.1016/j.bbrc.2024.150803

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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