Associated Papers
Single-Nucleotide Polymorphisms in Thrombotic Thrombocytopenic Purpura: A Genetic Predisposition to Immune Thrombotic Thrombocytopenic Purpura.
Konopnicki A et al.
Cureus, 2024
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.
Béranger N et al.
Blood Advances, 2024
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.
Elek Z et al.
Genes, 2023
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.
Poznyakova J et al.
Clinical and Experimental Pharmacology & Physiology, 2022
Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.
Jankowska KI et al.
Blood Advances, 2022
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
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
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
[Diagnosis of thrombotic thrombocytopenic purpura].
Galstyan GM et al.
Terapevticheskii Arkhiv, 2020
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
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
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
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
Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient.
Ferrari B et al.
Journal of Clinical Apheresis, 2015
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
Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
Marinozzi MC et al.
Journal of the American Society of Nephrology : Jasn, 2014
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
Inactivation of ADAMTS13 by plasmin as a potential cause of thrombotic thrombocytopenic purpura.
Feys HB et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
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
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.
Palla R et al.
Haematologica, 2009
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children.
Loirat C et al.
Pediatric Nephrology (berlin, Germany), 2009
Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
Raef H et al.
European Journal of Endocrinology, 2008
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
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
Tao Z et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.
Plaimauer B et al.
Blood, 2006
Cloning, expression and functional characterization of the full-length murine ADAMTS13.
Bruno K et al.
Journal of Thrombosis and Haemostasis : Jth, 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
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
Antoine G et al.
British Journal of Haematology, 2003