Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
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Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretionThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyFurin-mediated processing of Pro-C-type natriuretic peptideVon Willebrand disease: an overviewAssembly of Weibel-Palade body-like tubules from N-terminal domains of von Willebrand factorvon Willebrand factor: two sides of a coin.The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.Structure and function of factor XIvon Willebrand disease: still an intriguing disorder in the era of molecular medicine.Phylogenetic and functional analysis of histidine residues essential for pH-dependent multimerization of von Willebrand factor.How to roll an endothelial cigar: the biogenesis of Weibel-Palade bodies.A classification system for cross-reactive material-negative factor XI deficiencyHow to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency.Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storageTwo Cys residues essential for von Willebrand factor multimer assembly in the Golgi.Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3.Genetic regulation of plasma von Willebrand factor levels: quantitative trait loci analysis in a mouse model.von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA).Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.The molecular genetics of von Willebrand diseaseMultiple gene interaction and modulation of hemostatic balance.Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues.Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand diseaseCharacterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study.Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.A covalent oxidoreductase intermediate in propeptide-dependent von Willebrand factor multimerization.
P2860
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P2860
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Type 1 von Willebrand disease ...... ations of oligomeric proteins.
@en
type
label
Type 1 von Willebrand disease ...... ations of oligomeric proteins.
@en
prefLabel
Type 1 von Willebrand disease ...... ations of oligomeric proteins.
@en
P2093
P1433
P1476
Type 1 von Willebrand disease ...... ations of oligomeric proteins.
@en
P2093
P304
P356
10.1182/BLOOD.V98.10.2973
P407
P577
2001-11-01T00:00:00Z