Results 51 to 60 of about 6,876 (236)

A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

open access: yesFrontiers 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

Osteocytes Serve as a Progenitor Cell of Osteosarcoma [PDF]

open access: yes, 2014
Osteosarcoma (OSA) is the most common primary bone tumor in humans. However, the cell of origin of OSA is not clearly defined although there is evidence that osteoblasts may serve as OSA progenitors.
Asai   +49 more
core   +1 more source

Cloning and Characterization of the Proximal MurinePhexPromoter [PDF]

open access: yesEndocrinology, 2001
Phex is an endopetidase that regulates systemic phosphate homeostasis. We investigated Phex gene transcription by cloning and performing functional analysis of the 2736 bp of the 5' flanking region of the mouse Phex gene containing its promoter. We identified a transcription start site, a consensus TATA-box, and multiple potential cis-acting regulator ...
S, Liu, R, Guo, L D, Quarles
openaire   +3 more sources

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

open access: yesEndocrinology 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   +6 more
doaj   +1 more source

Immunolocalization of Enzymes/Membrane Transporters Related to Bone Mineralization in the Metaphyses of the Long Bones of Parathyroid-Hormone-Administered Mice

open access: yesMedicina, 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

Extracellular Matrix Mineralization Promotes E11/gp38 Glycoprotein Expression and Drives Osteocytic Differentiation [PDF]

open access: yes, 2012
Osteocytes are terminally differentiated osteoblasts which reside in a mineralized extracellular matrix (ECM). The factors that regulate this differentiation process are unknown.
Farquharson, C.   +3 more
core   +3 more sources

Probabilistic Label Relation Graphs with Ising Models

open access: yes, 2015
We consider classification problems in which the label space has structure. A common example is hierarchical label spaces, corresponding to the case where one label subsumes another (e.g., animal subsumes dog).
Deng, Jia   +3 more
core   +1 more source

Vitamin D. a dynamic molecule. how relevant might the dynamism for a vitamin be [PDF]

open access: yes, 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

Weakly nonlinear theory of grain boundary motion in patterns with crystalline symmetry

open access: yes, 2002
We study the motion of a grain boundary separating two otherwise stationary domains of hexagonal symmetry. Starting from an order parameter equation appropriate for hexagonal patterns, a multiple scale analysis leads to an analytical equation of motion ...
A. Kosevich   +9 more
core   +1 more source

Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia [PDF]

open access: yes, 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

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