Results 1 to 10 of about 4,164 (178)

Pathogenic Variants of the PHEX Gene

Endocrines, 2022
Twenty-five years ago, a pathogenic variant of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene was identified as the cause of X-linked hypophosphatemic rickets (XLH).
Yasuhisa Ohata, Yasuki Ishihara
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The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization [PDF]

Orphanet Journal of Rare Diseases
Background X-linked hypophosphatemic rickets (XLH, OMIM: 307800) is the most prevalent hereditary ricket characterized by hypophosphatemia, rickets, and osteomalacia. XLH resulted from pathogenic variants in PHEX gene.
Zhongzhi Gan, Meiyu Zheng, Chenzhao Guo, Fei He, Yingchun Zheng, Jiayi Li, Chen Li, Fang Yang, Qingfang Song, Qingxian Chang, Qian Liu, Fu Xiong, Hairui Xie   +12 more
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A novel phex gene variant causes non-syndromic tooth agenesis [PDF]

BMC Oral Health
Objectives For a long time, phosphate regulating endopeptidase X-linked (phex) gene variants have been considered the primary cause of hypophosphatemic rickets.
Yuhua Pan, Bingqiang Hua, He Wang, Shenglong Tan, Ting Lu, Fu Xiong, Dandan Ma   +6 more
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Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets [PDF]

Advanced Science
X‐linked hypophosphatemic rickets (XLHR) is a rare X‐linked dominant skeletal dysplasia caused by phosphate regulating endopeptidase homolog X‐linked (PHEX) gene mutation.
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
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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 and Disease, 2022
X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations.
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   +11 more
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The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model

Frontiers in Endocrinology, 2023
A Chinese family was identified to have two patients with rickets, an adult female and a male child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH).
Xiaoming Chen, Xiaoming Chen, Cijing Cai, Cijing Cai, Shaocong Lun, Qiuli Ye, Weiyuan Pan, Yushi Chen, Yuexuan Wu, Taoshan Feng, Faming Su, Choudi Ma, Jiaxin Luo, Meilian Liu, Guoda Ma, Guoda Ma   +15 more
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Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

Frontiers in Genetics, 2022
X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550).
Yanting Yang, Yanting Yang, Yanting Yang, Yuanda Wang, Ying Shen, Mohan Liu, Siyu Dai, Siyu Dai, Siyu Dai, Xiaodong Wang, Xiaodong Wang, Hongqian Liu, Hongqian Liu, Hongqian Liu   +13 more
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A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2018
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin   +6 more
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Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]

PLoS ONE, 2014
OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang   +12 more
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Effect of Supply and Exhaust Air Velocity on the Enthalpy and Temperature Exchange Efficiency of a Paper Heat Exchanger [PDF]

MATEC Web of Conferences, 2021
Heat Recovery Ventilators (HRV) are gradually becoming more popular in urban cities and buildings as it is able to effectively maintain the indoor air quality while also using minimal amounts of energy.
Hua Hong Jian, Al-Obaidi Abudulkareem Sh. Mahdi, Meng Chin Wai, Ling Neng Hui Kenny James   +3 more
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