Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
about
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisRegulation and function of the FGF23/klotho endocrine pathwaysA mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosisNewly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndromeLong-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcificationNormophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.Phosphatonins: new hormones involved in numerous inherited bone disordersA homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.Disorders of human dentinCongenital protein hypoglycosylation diseases.Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosisAblation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic featuresFamilial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.Disorders of phosphate homeostasis and tissue mineralisation.Renal handling of phosphate and sulfate.Genetic diseases of renal phosphate handling.GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityFamilial tumoral calcinosis in two Chinese patients: a case series.Novel functions of circulating Klotho.Idiopathic Tumoral Calcinosis - Rare Clinico Pathological Entity: A Report of Two CasesHuman Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.
P2860
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P2860
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
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2006年學術文章
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2006年學術文章
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name
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@en
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@nl
type
label
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@en
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@nl
prefLabel
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@en
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@nl
P2093
P1476
Hyperphosphatemic familial tum ...... GALNT3 in a European kindred.
@en
P2093
Eli Sprecher
John G Cooper
Margarita Indelman
Polina Specktor
P2888
P304
P356
10.1007/S10038-006-0377-6
P577
2006-03-10T00:00:00Z