Results 41 to 50 of about 5,354 (221)
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene [PDF]
European Journal of Endocrinology, 2009 ContextX-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and ...
Tasuku, Saito +7 more
openaire +2 more sources
Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 [PDF]
The Journal of Clinical Endocrinology & Metabolism, 1998 Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively ...
Peter H. Dixon +14 more
openaire +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR).
Baowei Li +9 more
doaj +1 more source
Mechanical loading modulates phosphate related genes in rat bone
PLoS ONE, 2023 Mechanical loading determines bone mass and bone structure, which involves many biochemical signal molecules. Of these molecules, Mepe and Fgf23 are involved in bone mineralization and phosphate homeostasis.
Ashwini Kumar Nepal +4 more
doaj +2 more sources
Frontiers in Pediatrics, 2023 AimX-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.
Mauro Borghi +4 more
doaj +1 more source
Medicina, 2023 The present study aimed to demonstrate the immunolocalization and/or gene expressions of the enzymes and membrane transporters involved in bone mineralization after the intermittent administration of parathyroid hormone (PTH).
Takahito Mae +7 more
doaj +1 more source
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 +6 more
doaj +1 more source
Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia
Frontiers in Endocrinology, 2022 ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu +3 more
doaj +1 more source
Burosumab therapy in children with x-linked hypophosphatemia [PDF]
, 2018 BACKGROUND X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities.
Boot, Annemieke M +13 more
core +2 more sources
X-linked hypophosphatemic rickets: a new mutation
Brazilian Journal of Nephrology, 2020 Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Patrícia Maio +7 more
doaj +2 more sources