Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.A900V
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ADAMTS13

NM_139027.6:p.A900V

Associated Papers

Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.

Cao W et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

40765928 (PubMed )
Supplement: BVTH_VTH-2024-000154-mmc1.pdf

Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.

Béranger N et al.

Blood Advances, 2024

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Jankowska KI et al.

Blood Advances, 2022

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

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

In silico features of ADAMTS13 contributing to plasmatic ADAMTS13 levels in neonates with congenital heart disease.

Katneni UK et al.

Thrombosis Research, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

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

Anti-ADAMTS13 Antibodies and a Novel Heterozygous p.R1177Q Mutation in a Case of Pregnancy-Onset Immune-Mediated Thrombotic Thrombocytopenic Purpura.

Roose E et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2018

Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease.

Katneni UK et al.

Thrombosis Research, 2017

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Fidalgo T et al.

Research and Practice in Thrombosis and Haemostasis, 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

ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study.

von Krogh AS et al.

Thrombosis Research, 2015

ADAMTS13 predicts renal and cardiovascular events in type 2 diabetic patients and response to therapy.

Rurali E et al.

Diabetes, 2013

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

Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.

Lotta LA et al.

Journal of Thrombosis and Haemostasis : Jth, 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

[ADAMTS13, von Willebrand factor specific cleaving protease].

Veyradier A et al.

Medecine Sciences : M/s, 2011

ADAMTS-13 deficiency: can it cause chronic renal failure?

Bramham K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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

Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura.

Camilleri RS et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Pathogenesis of thrombotic microangiopathies.

Zheng XL et al.

Annual Review of Pathology, 2008

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.

Donadelli R et al.

Thrombosis and Haemostasis, 2006

Cloning, expression and functional characterization of the full-length murine ADAMTS13.

Bruno K et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

Genetic Variation in ADAMTS13 is Related to VWF Levels, Atrial Fibrillation and Cerebral Ischemic Events.

Warlo EMK et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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