Results 1 to 10 of about 5,285 (179)

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   +4 more sources

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 [PDF]

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
doaj   +4 more sources

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. [PDF]

J Inherit Metab Dis, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E.   +11 more
europepmc   +6 more sources

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab [PDF]

Diagnostics, 2023
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels ...
Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito   +13 more
doaj   +4 more sources

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia [PDF]

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   +4 more sources

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay [PDF]

Frontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Wencong Guo, Shufang Luan, Leping Shao, Leping Shao   +14 more
doaj   +4 more sources

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country [PDF]

The Application of Clinical Genetics, 2020
Jessica María Forero-Delgadillo,1,2 Daniela Cleves,2,3 Vanessa Ochoa,1,2 Hernando Londoño-Correa,4 Jaime Manuel Restrepo,4 José Antonio Nastasi-Catanese,4,5 Harry Pachajoa2,5 1Pediatric Nephrology Fellow, Universidad Icesi-Fundaci ...
Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H   +6 more
doaj   +4 more sources

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
doaj   +4 more sources

Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak   +8 more
doaj   +4 more sources

A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets [PDF]

Endocrinology and Metabolism, 2014
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less ...
Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim   +6 more
doaj   +4 more sources