(Q46290971)

21 December 2017

title

A novel Phex mutation in a new mouse model of hypophosphatemic rickets (English)

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21 December 2017

7

Janet Rossant

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21 December 2017

S Lee Adamson

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Jane E. Aubin

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Jane E Aubin

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author name string

Celeste Owen

1

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21 December 2017

Frieda Chen

2

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21 December 2017

Ann M Flenniken

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21 December 2017

Lucy R Osborne

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21 December 2017

Shoji Ichikawa

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21 December 2017

publication date

1 July 2012

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21 December 2017

Journal of Cellular Biochemistry

published in

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21 December 2017

volume

113

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21 December 2017

issue

7

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21 December 2017

page(s)

2432-2441

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21 December 2017

Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone

cites work

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Sclerostin is a locally acting regulator of late-osteoblast/preosteocyte differentiation and regulates mineralization through a MEPE-ASARM-dependent mechanism

21 January 2018

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Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression

21 January 2018

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The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency

21 January 2018

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Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders

21 January 2018

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An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

21 January 2018

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PHEX gene and hypophosphatemia

21 January 2018

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cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone

21 January 2018

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A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

21 January 2018

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Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

21 January 2018

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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

21 January 2018

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A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells

21 January 2018

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Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype.

21 January 2018

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Pathogenic role of Fgf23 in Hyp mice.

21 January 2018

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Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization

21 January 2018

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New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

21 January 2018

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Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling.

21 January 2018

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Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.

21 January 2018

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Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

21 January 2018

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MEPE has the properties of an osteoblastic phosphatonin and minhibin.

21 January 2018

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Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.

21 January 2018

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The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex

21 January 2018

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Structure and function of disease-causing missense mutations in the PHEX gene

21 January 2018

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Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

21 January 2018

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PHEX, FGF23, DMP1 and beyond

21 January 2018

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Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

21 January 2018

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X-linked hypophosphataemia: a homologous disorder in humans and mice

21 January 2018

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Ontogeny of Phex/PHEX protein expression in mouse embryo and subcellular localization in osteoblasts

21 January 2018

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Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro

21 January 2018

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Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

21 January 2018

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A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice

21 January 2018

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Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3

21 January 2018

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Comprehensive algorithm for quantitative real-time polymerase chain reaction

21 January 2018

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Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JCB.24115

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21 December 2017

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21 December 2017