Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
about
Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respirationRegulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathwayIdentification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literatureGenetic disorders of calcium and phosphorus metabolism.The molecular background to hypophosphataemic rickets.Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.An 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.The wrickkened pathways of FGF23, MEPE and PHEX.Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatinSurface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP)The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled.Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp miceGenetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old InfantMutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.Hypophosphatemia and growth.A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.A novel Phex mutation in a new mouse model of hypophosphatemic rickets.Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
P2860
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P2860
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@en
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@nl
type
label
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@en
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@nl
prefLabel
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@en
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@nl
P2093
P2860
P50
P356
P1433
P1476
Genomic organization of the hu ...... nant hypophosphatemic rickets.
@en
P2093
Böddrich A
Mohnike KL
P2860
P304
P356
10.1101/GR.7.6.573
P577
1997-06-01T00:00:00Z