Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

Abstract X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and impaired bone mineralization. By phenotypic...

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Bibliografische Detailangaben

Hauptverfasser:	Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Nature Publishing Group 2022-06-01
Schriftenreihe:	Cell Death and Disease
Online-Zugang:	https://doi.org/10.1038/s41419-022-04969-5
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