Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia [PDF]
, 2016 The transgenic and knockout (KO) animals involving Fgf23 have been highly informative in defining novel aspects of mineral metabolism, but are limited by shortened lifespan, inability of spatial/temporal FGF23 control, and infertility of the global KO ...
Allen, Matthew R. +6 more
core +1 more source
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets [PDF]
Bone, 2008 X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). In this study, we sequenced the PHEX gene
Shoji Ichikawa +7 more
openalex +4 more sources
Genetic evidence of serum phosphate-independent functions of FGF-23 on bone [PDF]
, 2011 Maintenance of physiologic phosphate balance is of crucial biological importance, as it is fundamental to cellular function, energy metabolism, and skeletal mineralization.
Bergwitz, Clemens +7 more
core +1 more source
Mycobacterium leprae downregulates the expression of PHEX in Schwann cells and osteoblasts
Memorias do Instituto Oswaldo Cruz, 2010 Neuropathy and bone deformities, lifelong sequelae of leprosy that persist after treatment, result in significant impairment to patients and compromise their social rehabilitation.
Sandra R Boiça Silva +7 more
doaj +1 more source
Vitamin D. a dynamic molecule. how relevant might the dynamism for a vitamin be [PDF]
, 2015 Cholecalciferol, the precursor of Vitamin D3, is a very old, highly conserved, molecule. Its presence is evident in non-mineralized 750 million-year-old living species, such as plankton.
Mazzaferro, Sandro, Pasquali, Marzia
core +2 more sources
Journal of Investigative Medicine High Impact Case Reports, 2015 Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR).
Kok Siong Poon BSc +4 more
doaj +1 more source
Hypophosphatemic rickets: Revealing Novel Control Points for Phosphate Homeostasis [PDF]
, 2014 Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia.
Econs, Michael J. +2 more
core +1 more source
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]
, 2016 published_or_final_versio
Qiao, W +4 more
core +1 more source
PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]
PLoS ONE, 2014 ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk +2 more
doaj +1 more source
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets
BMC Medical Genomics, 2022 Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most ...
Yixuan Cao +11 more
doaj +1 more source