Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
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
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.
Béranger N et al.
Blood Advances, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
Wang X et al.
Current Medical Science, 2023
Clonal germinal center B cells function as a niche for T-cell lymphoma.
Fujisawa M et al.
Blood, 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
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
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 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
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Thergaonkar RW et al.
Clinical and Experimental Nephrology, 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
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
von Willebrand Factor, ADAMTS13 Activity, and Decline in Kidney Function: A Population-Based Cohort Study.
Sedaghat S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2016
Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.
Pagliari MT et al.
Plos One, 2016
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
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.
de Vries PS et al.
Blood, 2015
Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease.
Delmas Y et al.
Bmc Pregnancy and Childbirth, 2015
A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome: Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared after Successful Delivery.
Ogawa Y et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2015
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
Pérez-Rodríguez A et al.
Thrombosis Research, 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
Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome.
Deal T et al.
Journal of Clinical Apheresis, 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
Polymorphisms and mutations in vWF and ADAMTS13 genes and their correlation with plasma levels of FVIII and vWF in patients with deep venous thrombosis.
Bittar LF et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.
Kokame K et al.
Journal of Thrombosis and Haemostasis : Jth, 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
ADAMTS13 gene mutations in children with hemolytic uremic syndrome.
Choi HS et al.
Yonsei Medical Journal, 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