Results 11 to 20 of about 5,354 (221)

Pathogenic Variants of the PHEX Gene [PDF]

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   +3 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   +3 more sources

Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media. [PDF]

PLoS ONE, 2012
Genetic susceptibility underlying otitis media (OM) remains to be understood. We show in this study that mutation in Phex gene predisposes the BALB/c-Phex(Hyp-Duk)/Y (abbreviated Hyp-Duk/Y) mice to OM, which occurs at post-natal day 21 (P21) with an ...
Fengchan Han, Heping Yu, Ping Li, Jiangping Zhang, Cong Tian, Hongbo Li, Qing Yin Zheng   +6 more
doaj   +5 more sources

A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo   +5 more
doaj   +3 more sources

Effects of thyroxine exposure on osteogenesis in mouse calvarial pre-osteoblasts. [PDF]

PLoS ONE, 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.
James J Cray, Kameron Khaksarfard, Seth M Weinberg, Mohammed Elsalanty, Jack C Yu   +4 more
doaj   +11 more sources

X-linked hypophosphatemic rickets caused by a de novo PHEX gene variation in a family. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2021
X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The treatment is more complicated compared with the general rickets. A family were admitted to the Department of Endocrinology, Hainan General Hospital in 2018.
Zhang Y, Zhang X, Fang T, Quan H, Chen K, Sheng Z.   +5 more
europepmc   +5 more sources

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. [PDF]

Int J Mol Med, 2016
Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic rickets (XLH; OMIM 307800). In the present study, we enrolled 43 patients from 18 unrelated families clinically diagnosed with hypophosphatemic rickets and 250 healthy controls. For
Li SS, Gu JM, Yu WJ, He JW, Fu WZ, Zhang ZL.   +5 more
europepmc   +6 more sources

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets. [PDF]

Endocr Metab Immune Disord Drug Targets, 2023
Terracciano A, De Bernardi ML, Novizio R, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C.   +9 more
europepmc   +2 more sources

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). [PDF]

Hum Mutat, 2022
Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y.   +15 more
europepmc   +2 more sources

SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation [PDF]

J Endocr Soc, 2020
Badran A, Bargman R.
europepmc   +3 more sources