Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasisOrganization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respirationExcessive Osteocytic Fgf23 Secretion Contributes to Pyrophosphate Accumulation and Mineralization Defect in Hyp MiceHomozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient miceUrinary prostaglandins and the effect of indomethacin on phosphate excretion in children with hypophosphatemic rickets.Fibroblast growth factor-23 increases mouse PGE2 production in vivo and in vitro.Expression and distribution of SIBLING proteins in the predentin/dentin and mandible of hyp mice.The molecular background to hypophosphataemic rickets.Phosphatonin washout in Hyp mice proximal tubules: evidence for posttranscriptional regulation.Cellular ATP synthesis mediated by type III sodium-dependent phosphate transporter Pit-1 is critical to chondrogenesisMutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism.Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp miceWhole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.Evidence for a bone-kidney axis regulating phosphate homeostasis.Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemiaAn ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacin.Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia.Fibroblast growth factor 23: state of the field and future directionsHexa-D-arginine treatment increases 7B2•PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype.Insights from genetic disorders of phosphate homeostasisMutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice.Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.Kidney and phosphate metabolism.A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.Hormonal Regulation of Osteocyte Perilacunar and Canalicular Remodeling in the Hyp Mouse Model of X-Linked Hypophosphatemia.Increased Circulating FGF23 Does Not Lead to Cardiac Hypertrophy in the Male Hyp Mouse Model of XLH.
P2860
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P2860
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
description
1997 nî lūn-bûn
@nan
1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@ast
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@en
type
label
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@ast
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@en
prefLabel
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@ast
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@en
P2093
P2860
P1476
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
@en
P2093
P2860
P304
P407
P577
1997-04-01T00:00:00Z