Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.R193W
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ADAMTS13

NM_139027.6:p.R193W

Associated Papers

Arginine Methylation by PRMT1 Affects ADAMTS13 Secretion and Enzymatic Activity.

Liu S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

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

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.

Markham-Lee Z et al.

Platelets, 2023

Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura.

Sakai K et al.

Journal of Clinical Medicine, 2023

Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.

Ręka G et al.

Cells, 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

First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene.

Chou SC et al.

International Journal of Hematology, 2021

[Diagnosis of thrombotic thrombocytopenic purpura].

Galstyan GM et al.

Terapevticheskii Arkhiv, 2020

Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene.

Dai YL et al.

Frontiers in Pediatrics, 2020

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.

van Dorland HA et al.

Haematologica, 2019

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

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

The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.

De Cock E et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.

Pérez-Rodríguez A et al.

Thrombosis Research, 2014

Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy.

Tanaka H et al.

The Journal of Obstetrics and Gynaecology Research, 2014

Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.

Lancellotti S et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

ADAMTS13 activity and genetic mutations in Japan.

Miyata T et al.

Hamostaseologie, 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

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.

Fujimura Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.

de Groot R et al.

Blood, 2010

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Human Mutation, 2010

Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.

Fujimura Y et al.

British Journal of Haematology, 2009

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

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

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

[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."