Article
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.
Cell death & disease - 2 Jun 2022
Gan Yu-Mian, Zhang Yan-Ping, Ruan Dan-Dan, Huang Jian-Bin, Zhu Yao-Bin, Lin Xin-Fu, Xiao Xiao-Ping, Cheng Qiong, Geng Zhen-Bo, Liao Li-Sheng, Tang Fa-Qiang, Luo Jie-Wei
Abstract excerpt
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-genetic linkage analysis, two PHEX pathogenic mutations were found in two XLH families: c.433 G > T, p.Glu145* in exon 4 and...
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