Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisGlycopeptide-preferring polypeptide GalNAc transferase 10 (ppGalNAc T10), involved in mucin-type O-glycosylation, has a unique GalNAc-O-Ser/Thr-binding site in its catalytic domain not found in ppGalNAc T1 or T2Endocrine FGFs: Evolution, Physiology, Pathophysiology, and PharmacotherapyFrom variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disordersMiscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)Mucin-type O-glycosylation during developmentSkeletal secretion of FGF-23 regulates phosphate and vitamin D metabolismRegulation and function of the FGF23/klotho endocrine pathwaysControl of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene familyEctopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcificationFibroblast Growth Factor 23: A New Dimension to Diseases of Calcium-Phosphorus MetabolismFibrous dysplasia and fibroblast growth factor-23 regulationFamilial tumoral calcinosis: a valuable vehicle for discoveryGenetic disorders of phosphate regulationThe secretory pathway kinasesA mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosisN-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse modelsLectin domains of polypeptide GalNAc transferases exhibit glycopeptide binding specificityMultiple members of the UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase family are essential for viability in DrosophilaInitiation of protein O glycosylation by the polypeptide GalNAcT-1 in vascular biology and humoral immunity.Conservation of peptide acceptor preferences between Drosophila and mammalian polypeptide-GalNAc transferase ortholog pairs.Identification of common and unique peptide substrate preferences for the UDP-GalNAc:polypeptide alpha-N-acetylgalactosaminyltransferases T1 and T2 derived from oriented random peptide substrates.The lectin domains of polypeptide GalNAc-transferases exhibit carbohydrate-binding specificity for GalNAc: lectin binding to GalNAc-glycopeptide substrates is required for high density GalNAc-O-glycosylation.Vitamin D: newly discovered actions require reconsideration of physiologic requirements.Isoform-specific O-glycosylation of osteopontin and bone sialoprotein by polypeptide N-acetylgalactosaminyltransferase-1.Characterization and expression analysis of Galnts in developing Strongylocentrotus purpuratus embryos.Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndromeO-glycosylation regulates polarized secretion by modulating Tango1 stability.O-glycosylation modulates proprotein convertase activation of angiopoietin-like protein 3: possible role of polypeptide GalNAc-transferase-2 in regulation of concentrations of plasma lipidsCirculating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically activeStructure and biological roles of mucin-type O-glycans at the ocular surface.Low density lipoprotein receptor class A repeats are O-glycosylated in linker regionsGenome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture riskAn O-glycosyltransferase promotes cell adhesion during development by influencing secretion of an extracellular matrix integrin ligand.Rare bone diseases and their dental, oral, and craniofacial manifestations.Mineral metabolism and aging: the fibroblast growth factor 23 enigma.Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calciumTumor-induced osteomalacia.Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.
P2860
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P2860
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@ast
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@en
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@nl
type
label
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@ast
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@en
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@nl
prefLabel
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@ast
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@en
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in GALNT3, encoding ...... se familial tumoral calcinosis
@en
P2093
Arieh Metzker
Dan Petronius
Daniel L Shurman
Doron Behar
Eli Sprecher
Gabriele Richard
Israel Zelikovic
Margarita Indelman
Mordechai Mizrachi
Orit Topaz
P2860
P2888
P304
P3181
P356
10.1038/NG1358
P407
P577
2004-06-01T00:00:00Z