Results 41 to 50 of about 6,876 (236)
Effects of PHEX Antisense in Human Osteoblast Cells [PDF]
Journal of the American Society of Nephrology, 2002 X-linked hypophosphatemia (XLH) is an X-linked dominant disorder that is characterized by rachitic bone disease and hypophosphatemia due to renal phosphate transport defect. The candidate gene for XLH, PHEX, has recently been identified and found to share high homology with endopeptidases.
Nengjen Remi, Shih +2 more
openaire +2 more sources
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
Topological Phase Transitions and Holonomies in the Dimer Model [PDF]
, 2008 We demonstrate that the classical dimer model defined on a toroidal hexagonal lattice acquires holonomy phases in the thermodynamic limit. When all activities are equal the lattice sizes must be considered mod 6 in which case the finite size corrections ...
Baxter R J +8 more
core +3 more sources
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia [PDF]
, 2018 Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some
Alan Sorani +38 more
core +1 more source
Primary osteoblast-like cells from patients with end-stage kidney disease reflect gene expression, proliferation, and mineralization characteristics ex vivo. [PDF]
, 2015 Osteocytes regulate bone turnover and mineralization in chronic kidney disease. As osteocytes are derived from osteoblasts, alterations in osteoblast function may regulate osteoblast maturation, osteocytic transition, bone turnover, and skeletal ...
Bowen, Richard E +6 more
core +2 more sources
Calcium‑dependent activation of PHEX, MEPE and DMP1 in osteocytes
Molecular Medicine Reports, 2022 Calcium (Ca2+) signaling is the first messenger signal exhibited by osteocytes. The present study aimed to better understand the link between Ca2+ concentration, and the levels of bone mineralization regulator proteins [phosphate‑regulating neutral endopeptidase on chromosome X (PHEX), matrix extracellular phosphoglycoprotein (MEPE) and dentin matrix ...
Donmez B.O. +4 more
openaire +4 more sources
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 +4 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
Indian Journal of Ophthalmology, 2022 Purpose: To compare findings in specular microscopy, corneal topography, and noncontact meibography in polycystic ovary syndrome (PCOS) patients with healthy controls.
Ayşe Tüfekçi Balıkçı +2 more
doaj +1 more source
The closest elastic tensor of arbitrary symmetry to an elasticity tensor of lower symmetry [PDF]
, 2006 The closest tensors of higher symmetry classes are derived in explicit form for a given elasticity tensor of arbitrary symmetry. The mathematical problem is to minimize the elastic length or distance between the given tensor and the closest elasticity ...
A. Bóna +49 more
core +3 more sources