The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
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The FGF23-Klotho axis: endocrine regulation of phosphate homeostasisFGF23-mediated regulation of systemic phosphate homeostasis: is Klotho an essential player?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 bisphosphonatesHypophosphatemic rickets: revealing novel control points for phosphate homeostasis.Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calciumLong-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.Recent advances in renal phosphate handling.Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism.Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcificationHyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features.Dietary 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.Fibroblast growth factor 23 and bone mineralisation.The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasisMolecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosisThe lectin domain of the polypeptide GalNAc transferase family of glycosyltransferases (ppGalNAc Ts) acts as a switch directing glycopeptide substrate glycosylation in an N- or C-terminal direction, further controlling mucin type O-glycosylationRenal phosphate handling: Physiology.Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.The phosphate regulating hormone fibroblast growth factor-23.Clinical practice. Fibroblast growth factor (FGF)23: a new hormone.Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityDietary Phosphorus Intake and the Kidney.Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.Chronic Hyperphosphatemia and Vascular Calcification Are Reduced by Stable Delivery of Soluble Klotho.Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia.Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms
P2860
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P2860
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
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
@yue
2006年學術文章
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name
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@en
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@nl
type
label
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@en
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@nl
prefLabel
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@en
The role of mutant UDP-N-acety ...... heritable tumoral calcinosis.
@nl
P2093
P356
P1476
The role of mutant UDP-N-acety ...... n heritable tumoral calcinosis
@en
P2093
Bhaskar Dasgupta
Corinne Fisher
Daniel L Koller
Holly J Garringer
Kenneth E White
Michael J Cullen
Niamh Conlon
Siobhan I Davis
Tobias E Larsson
P304
P356
10.1210/JC.2006-0305
P407
P577
2006-07-25T00:00:00Z