Associated Papers
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced Research, 2025
The Highs and Lows of ADAMTS13 Activity.
Shaw RJ et al.
Journal of Clinical Medicine, 2024
Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
Wang X et al.
Current Medical Science, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Molecular basis of C-mannosylation - a structural perspective.
Crine SL et al.
The Febs Journal, 2022
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.
Zguro K et al.
Viruses, 2022
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.
Borogovac A et al.
Blood Advances, 2022
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.
Hassenpflug WA et al.
Thrombosis and Haemostasis, 2018
Insights into 3D Structure of ADAMTS13: A Stepping Stone towards Novel Therapeutic Treatment of Thrombotic Thrombocytopenic Purpura.
Ercig B et al.
Thrombosis and Haemostasis, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Protective effect of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 haplotype on coronary artery disease.
Lasom S et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2017
Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant.
Nakagawa M et al.
Legal Medicine (tokyo, Japan), 2016
The role of the ADAMTS13 cysteine-rich domain in VWF binding and proteolysis.
de Groot R et al.
Blood, 2015
A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome: Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared after Successful Delivery.
Ogawa Y et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2015
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
Pérez-Rodríguez A et al.
Thrombosis Research, 2014
Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome.
Eura Y et al.
Molecular Genetics & Genomic Medicine, 2014
Identification of N-linked glycosylation and putative O-fucosylation, C-mannosylation sites in plasma derived ADAMTS13.
Sorvillo N et al.
Journal of Thrombosis and Haemostasis : Jth, 2014
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Lancellotti S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.
Feng S et al.
Blood, 2013
Protein S K196E mutation, a genetic risk factor for venous thromboembolism, is limited to Japanese.
Liu W et al.
Thrombosis Research, 2013
Crystal structure and enzymatic activity of an ADAMTS-13 mutant with the East Asian-specific P475S polymorphism.
Akiyama M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
ADAMTS13 activity and genetic mutations in Japan.
Miyata T et al.
Hamostaseologie, 2013
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.
Camilleri RS et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency.
Yagi H et al.
Presse Medicale (paris, France : 1983), 2012
Association of ADAMTS13 polymorphism with cerebral malaria.
Kraisin S et al.
Malaria Journal, 2011
[ADAMTS13, von Willebrand factor specific cleaving protease].
Veyradier A et al.
Medecine Sciences : M/s, 2011
ADAMTS-13 gene expression in antiphospholipid syndrome.
Hançer VS et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2011
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.
Kokame K et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.
Fujimura Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Genetic determinants of von Willebrand factor levels and activity in relation to the risk of cardiovascular disease: a review.
van Schie MC et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
ADAMTS13 gene mutations in children with hemolytic uremic syndrome.
Choi HS et al.
Yonsei Medical Journal, 2011
Association between ADAMTS13 polymorphisms and risk of cardiovascular events in chronic coronary disease.
Schettert IT et al.
Thrombosis Research, 2010
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Pathophysiology of thrombotic thrombocytopenic purpura.
Tsai HM
International Journal of Hematology, 2010
Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients.
Bongers TN et al.
Atherosclerosis, 2009
Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease.
Sauna ZE et al.
Plos One, 2009
Production, crystallization and preliminary crystallographic analysis of an exosite-containing fragment of human von Willebrand factor-cleaving proteinase ADAMTS13.
Akiyama M et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2009
[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13].
Kokame K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008
ADAMTS13 P475S polymorphism causes a lowered enzymatic activity and urea lability in vitro.
Akiyama M et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population.
Jang MJ et al.
Yonsei Medical Journal, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
ADAMTS13 assays and ADAMTS13-deficient mice.
Miyata T et al.
Current Opinion in Hematology, 2007