Results 31 to 40 of about 5,354 (221)

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability [PDF]

Calcified Tissue International, 2011
Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH).
Tjin‐Shing Jap, Chih‐Yang Chiu, Dau‐Ming Niu, Michael A. Levine   +3 more
openalex   +4 more sources

A vast stem-progenitor cell pool, richly vascular system, and hybrid ossification drive the daily centimeter-scale elongation of bony antlers. [PDF]

Imeta
Bone growth and regeneration remain major clinical challenges. Deer antlers, the fastest‐growing mammalian bone, regenerate via endochondral ossification and elongate up to 2 cm per day, far surpassing the ~2 cm annual growth of human growth plates. Here, we systematically mapped the cellular landscape of the antler growth center (AGC) using single ...
Ba H, He S, Sun HX, Wang X, Zhang H, Deng Q, Yuan Y, Liu C, Wang Z, Li J, Xie L, Tang Y, Wang J, Ma C, Li N, Hu P, Guo Q, Zhang G, Coates DE, Gu Y, Liu C, Wang D, Li C.   +22 more
europepmc   +2 more sources

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein [PDF]

Human Molecular Genetics, 2001
PHEX is homologous to the M13 zinc metallopeptidases, a class of type II membrane glycoproteins. Although more than 140 mutations in the PHEX gene have been identified in patients with X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets, the molecular consequences of disease-causing PHEX mutations have not yet been ...
Yves Sabbagh
openalex   +3 more sources

Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2001
PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 patients in whom all 22 PHEX exons were studied. In 13 patients, in whom no PHEX mutation had been previously detected in 17 exons, the remaining 5 PHEX exons were analyzed and ...
Ingrid A. Holm
  +5 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

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Endokrynologia Polska, 2021
INTRODUCTION: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene.
Monika Obara-Moszynska, Aleksandra Rojek, Zofia Kolesinska, Dorota Jurkiewicz, Krystyna H. Chrzanowska, Marek Niedziela   +5 more
doaj   +1 more source

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

Italian Journal of Pediatrics, 2022
Background Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to ...
Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy   +4 more
doaj   +1 more source

Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets. [PDF]

Bone Joint Res, 2019
Huang J, Bao X, Xia W, Zhu L, Zhang J, Ma J, Jiang N, Yang J, Chen Q, Jing T, Liu J, Ma D, Xu G.   +12 more
europepmc   +3 more sources

Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation) [PDF]

Journal of Pediatric Endocrinology and Diabetes
Hypophosphatemic rickets is a type of hereditary rickets distinguished by both hypophosphatemia and hyperphosphaturia. X-linked hypophosphatemic rickets (XLH) is the most prevalent type of heritable hypophosphatemic rickets. We describe a 3-year-old child whose phosphate-regulating endopeptidase homolog X-linked (PHEX) gene variation resulted in lower ...
Dhanya Mohan, Rajesh Thaliyil Veettil, M. Vijayakumar   +2 more
openalex   +2 more sources

Coexistent CYP24A1 and PHEX Gene Mutations With Hypervitaminosis D Plus Hypercalcemia Treated With Fluconazole

Journal of the Endocrine Society, 2021
Abstract Background: CYP24A1 and PHEX gene mutations are rare and can cause hypercalcemia, hypervitaminosis D and elevated FGF23 levels. Fluconazole, an antifungal medication, has shown therapeutic benefit in achieving normocalcemia plus normalisation of vitamin D levels in this case report.
David Bawden, William D. Fraser, Darrell Green, Shoib Ur Rehman   +3 more
openalex   +3 more sources