Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.L232Q
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ADAMTS13

NM_139027.6:p.L232Q

Associated Papers

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.

Seidizadeh O et al.

Blood Advances, 2024

38935915 (PubMed )
Supplement: BLOODA_ADV-2024-013421-mmc1.pdf

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

34807988 (PubMed )
Supplement: advancesADV2021005760-suppl1.pdf

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Zhao T et al.

Bmc Genomic Data, 2021

34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM10_ESM.xlsx › HGMD

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation.

Letzer A et al.

Plos One, 2020

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

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

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

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.

Matsumoto M et al.

Blood, 2004

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

Schneppenheim R et al.

Blood, 2003

[von Willebrand disease--including related renal diseases].

Sato M

Ryoikibetsu Shokogun Shirizu, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."