Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene
about
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)A 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 syndromeDifferential response of idiopathic sporadic tumoral calcinosis to bisphosphonatesNicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calciumGenetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.Long-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 calcificationDietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosisA Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).Insights from genetic disorders of phosphate homeostasisAblation 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.Novel regulators of Fgf23 expression and mineralization in Hyp boneIdentification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityHuman Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
P2860
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P2860
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@ast
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@en
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@nl
type
label
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@ast
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@en
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@nl
prefLabel
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@ast
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@en
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@nl
P2093
P3181
P356
P1476
Tumoral calcinosis presenting ...... rase domain of the GALNT3 gene
@en
P2093
Andrea H Sorenson
Gerald J Harris
Joseph L Shaker
Paul Knudson
Rebecca Severe
Shoji Ichikawa
P304
P3181
P356
10.1210/JC.2006-1247
P407
P577
2006-11-01T00:00:00Z