Associated Papers
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.
Markham-Lee Z et al.
Platelets, 2023
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
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.
Li P et al.
Bmc Medical Genomics, 2021
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F et al.
Blood, 2019
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
Joly BS et al.
Thrombosis and Haemostasis, 2018
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Lancellotti S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.
Hing ZA et al.
British Journal of Haematology, 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
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Blood, 2012
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease.
Pozzi N et al.
Biophysical Chemistry, 2012
[ADAMTS13, von Willebrand factor specific cleaving protease].
Veyradier A et al.
Medecine Sciences : M/s, 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
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children.
Loirat C et al.
Pediatric Nephrology (berlin, Germany), 2009
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Hommais A et al.
Thrombosis and Haemostasis, 2007
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
Matsumoto M et al.
Blood, 2004
VWF73, a region from D1596 to R1668 of von Willebrand factor, provides a minimal substrate for ADAMTS-13.
Kokame K et al.
Blood, 2004
ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage.
Soejima K et al.
Blood, 2003
A perspective on the measurement of ADAMTS13 in thrombotic thrombocytopaenic purpura.
Pimanda JE et al.
European Journal of Haematology, 2003
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.
Kokame K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2002
[von Willebrand disease--including related renal diseases].
Sato M
Ryoikibetsu Shokogun Shirizu, 1997