Results 1 to 10 of about 6,468 (148)

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
doaj   +2 more sources

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
doaj   +2 more sources

Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature [PDF]

Endocrine Journal
Over 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated.
Kazuhisa Akiba, Keiko Matsubara, Atsushi Hattori, Maki Fukami   +3 more
doaj   +2 more sources

Burosumab prevents further height deficit in toddlers affected by XLH [PDF]

Endocrine Connections
Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX variants. Besides rickets, XLH leads to disproportionately short stature, which develops during the first months of life.
Elisa Sala, Jugurtha Berkenou, Anya Rothenbuhler, Anne-Sophie Lambert, Christelle Audrain, Barbara Girerd, Marco Pitea, Stefano Mora, Agnès Linglart, Diana-Alexandra Ertl   +9 more
doaj   +2 more sources

Short stature in pre-pubertal children with X-linked hypophosphatemia [PDF]

Endocrine Connections
Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.
Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia   +15 more
doaj   +2 more sources

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
X-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wasting, reduced 1,25 ...
Sara Ribeiro, Telma Moreno, Ana Varela, Gabriela Soares, Joana Queirós   +4 more
doaj   +2 more sources

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
doaj   +1 more source

Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts [PDF]

, 2013
The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes.
A Mansukhani, AK Coussens, BD Stamper, BK Huang, BU Ang, C Owen, C Yao, CB Harvey, CH Shackleton, CW Li, D Gomez, D Johnson, DC Robinson, DP Rice, DT Gault, G Radetti, G Ramajayam, GA Brent, GM Morriss-Kay, GR Williams, H Kohara, H Miraoui, HJ Kim, J Connerney, J Esparza, J Zumbrunn, JA Greenwald, Jack C. Yu, James J. Cray, JH Bassett, JH Oh, JL Penfold, JM Britto, JQ Feng, JS Morey, K Kasono, KA Kapp-Simon, Kameron Khaksarfard, KM Lee, M Bodo, M Menking, M Segni, MH Sheng, MM Cohen Jr, Mohammed Elsalanty, PJ Marie, R Rice, S Akita, S Wadhwa, S Weiss, SA Boyadjiev, SA Rasmussen, Seth M. Weinberg, W Arlt, W Riggs Jr, WM Chadduck, Xing-Ming Shi, Y Xiong, Z von Marschall   +58 more
core   +8 more sources

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
doaj   +1 more source

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
doaj   +1 more source