Associated Papers
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 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
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
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 polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.
Li L et al.
International Urogynecology Journal, 2022
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.
Li P et al.
Bmc Medical Genomics, 2021
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Furmańczyk-Zawiska A et al.
Journal of Personalized Medicine, 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
Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient.
Bhakuni T et al.
Blood Cells, Molecules & Diseases, 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
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 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
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Association of a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 polymorphisms with severity of coronary stenosis in type 2 diabetes mellitus.
Lasom S et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2018
ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.
Goel A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 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
Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.
Ma Q et al.
Blood Advances, 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
Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.
Pagliari MT et al.
Plos One, 2016
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
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
Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome.
Eura Y et al.
Molecular Genetics & Genomic Medicine, 2014
ADAMTS13 predicts renal and cardiovascular events in type 2 diabetic patients and response to therapy.
Rurali E et al.
Diabetes, 2013