Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
about
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in miceLarge animal models of cardiovascular diseaseFrom variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disordersFGF23 and Phosphate Wasting DisordersSkeletal secretion of FGF-23 regulates phosphate and vitamin D metabolismPhosphate/pyrophosphate and MV-related proteins in mineralisation: discoveries from mouse modelsRegulation and function of the FGF23/klotho endocrine pathwaysBone disease in pediatric chronic kidney diseaseFibroblast Growth Factor 23: A New Dimension to Diseases of Calcium-Phosphorus MetabolismExtracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemiaEffects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Osteocyte-specific deletion of Fgfr1 suppresses FGF23Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 geneAmelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null miceCalcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype.PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolismGenetics in arterial calcification: pieces of a puzzle and cogs in a wheel.Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.Atrium of stone: A case of confined left atrial calcification without hemodynamic compromise.Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE)Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.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.Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.Altered bone development and an increase in FGF-23 expression in Enpp1(-/-) mice.Tumor-induced osteomalacia.The changing face of hypophosphatemic disorders in the FGF-23 eraMutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.Antibody-mediated activation of FGFR1 induces FGF23 production and hypophosphatemia.Phosphate sensing.Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.Evaluation of hypophosphatemia: lessons from patients with genetic disorders.Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysisFGF-23: More than a regulator of renal phosphate handling?A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.Calpain-1 Mediated Disorder of Pyrophosphate Metabolism Contributes to Vascular Calcification Induced by oxLDL.Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.Phosphatonins: new hormones involved in numerous inherited bone disorders
P2860
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P2860
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@ast
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@en
type
label
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@ast
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@en
prefLabel
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@ast
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@en
P2093
P2860
P1476
Loss-of-function ENPP1 mutatio ...... ssive hypophosphatemic rickets
@en
P2093
Bettina Lorenz-Depiereux
Dirk Schnabel
Dov Tiosano
Gabriele Häusler
Tim M Strom
P2860
P304
P356
10.1016/J.AJHG.2010.01.006
P407
P577
2010-02-04T00:00:00Z