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

scientific article published on February 2012

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/JBMR.544
P932PMC publication ID3288231
P698PubMed publication ID22006791
P5875ResearchGate publication ID51721313

P50authorMichael J. EconsQ40973951
P2093author name stringShoji Ichikawa
Amie K Gray
Anthony M Austin
P2860cites workPathogenic role of Fgf23 in Hyp mice.Q46921328
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic ricketsQ48049188
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.Q52572405
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutationsQ61831294
Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and depositionQ73400284
Pex mRNA is localized in developing mouse osteoblasts and odontoblastsQ74386168
Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurementQ81038213
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosisQ81353302
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP ConsortiumQ24308202
FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasisQ24319751
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylationQ24321247
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrationsQ24595718
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 geneQ28260860
Ontogeny of Phex/PHEX protein expression in mouse embryo and subcellular localization in osteoblastsQ28510111
Circulating FGF-23 is regulated by 1alpha,25-dihydroxyvitamin D3 and phosphorus in vivoQ28572995
Normalization of real-time quantitative reverse transcription-PCR data: a model-based variance estimation approach to identify genes suited for normalization, applied to bladder and colon cancer data setsQ29615465
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).Q30426917
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.Q33264714
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formationQ33591785
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in miceQ33808604
Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriolQ34629902
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic ricketsQ35238632
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.Q35747726
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisQ35925637
Calcimimetics as an adjuvant treatment for familial hypophosphatemic ricketsQ36662050
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expressionQ37210780
Effects of hPTH(1-34) infusion on circulating serum phosphate, 1,25-dihydroxyvitamin D, and FGF23 levels in healthy men.Q37345103
The regulation of parathyroid hormone secretion and synthesisQ37821623
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.Q40482177
Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.Q40862972
cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in boneQ42638660
Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in miceQ44142771
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalaciaQ44203982
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemiaQ44414604
Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23.Q44465622
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationQ45345392
A novel Phex mutation in a new mouse model of hypophosphatemic ricketsQ46290971
Vitamin D receptor-independent FGF23 actions in regulating phosphate and vitamin D metabolismQ46585085
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosisQ46609225
P433issue2
P921main subjectmurine modelQ122890741
P304page(s)453-460
P577publication date2012-02-01
P1433published inJournal of Bone and Mineral ResearchQ15750941
P1476titleA Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
P478volume27

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cites work (P2860)
Q388791381,25-Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future?
Q39074268A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice
Q46290971A novel Phex mutation in a new mouse model of hypophosphatemic rickets
Q41832467Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia
Q37092161Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia
Q27343138Excessive Osteocytic Fgf23 Secretion Contributes to Pyrophosphate Accumulation and Mineralization Defect in Hyp Mice
Q64040255FGF23 and its role in X-linked hypophosphatemia-related morbidity
Q27010789Fibrous dysplasia and fibroblast growth factor-23 regulation
Q46088111Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets
Q34185739Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse
Q38345898Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action
Q34069793Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis
Q37592511Iron and fibroblast growth factor 23 in X-linked hypophosphatemia
Q92830883New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management
Q28541582Osteocyte-specific deletion of Fgfr1 suppresses FGF23
Q36367168Overexpression of the DMP1 C-terminal fragment stimulates FGF23 and exacerbates the hypophosphatemic rickets phenotype in Hyp mice.
Q55375521Physiological Actions of Fibroblast Growth Factor-23.
Q26852177Regulation of serum phosphate
Q42656868Targeted Pth4-expressing cell ablation impairs skeletal mineralization in zebrafish
Q34221238The changing face of hypophosphatemic disorders in the FGF-23 era