Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
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Current concepts in thrombotic thrombocytopenic purpuraPathogenesis of thrombotic microangiopathiesCloning, expression and functional characterization of the full-length murine ADAMTS13.Thrombotic thrombocytopenic purpura and its diagnosis.Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays.ADAMTS-13 plasma level determination uncovers antigen absence in acquired thrombotic thrombocytopenic purpura and ethnic differences.Thrombotic microangiopathies: an update.Pathology of thrombotic thrombocytopenic purpura in the placenta, with emphasis on the snowman sign.The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.Recombinant ADAMTS13 normalizes von Willebrand factor-cleaving activity in plasma of acquired TTP patients by overriding inhibitory antibodies.ADAMTS13 gene mutations in children with hemolytic uremic syndrome.Investigational drugs in thrombotic thrombocytopenic purpura.Crystal structure and enzymatic activity of an ADAMTS-13 mutant with the East Asian-specific P475S polymorphism.The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.Neutralization of inhibitory antibodies and restoration of therapeutic ADAMTS-13 activity levels in inhibitor-treated rats by the use of defined doses of recombinant ADAMTS-13.Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome.Thrombotic microangiopathy in haematopoietic cell transplantation: an update.The cooperative activity between the carboxyl-terminal TSP1 repeats and the CUB domains of ADAMTS13 is crucial for recognition of von Willebrand factor under flow.The proximal carboxyl-terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of von Willebrand factor.ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report.Human endothelial cells synthesize and release ADAMTS-13.
P2860
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P2860
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին 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
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@ast
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@en
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@nl
type
label
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@ast
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@en
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@nl
prefLabel
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@ast
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@en
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@nl
P1476
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
@en
P2093
Koichi Kokame
Toshiyuki Miyata
P356
10.1053/J.SEMINHEMATOL.2003.10.002
P407
P577
2004-01-01T00:00:00Z