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
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F et al.
Blood, 2019
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
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
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
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
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.
Pimanda JE et al.
Blood, 2004
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
Levy GG et al.
Nature, 2001
[von Willebrand disease--including related renal diseases].
Sato M
Ryoikibetsu Shokogun Shirizu, 1997