Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.A473V
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THBD

NM_000361.3:p.A473V

Associated Papers

Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy.

Benigni A et al.

Kidney International, 2026

Acquired and genetic drivers of C3 and C5 convertase dysregulation in C3 glomerulopathy and immunoglobulin-associated MPGN.

Roquigny J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Endothelium Modulates the Prothrombotic Phenotype of Factor V Leiden: Evidence From an Ex Vivo Model.

Schwarz N et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

Impact of Thrombomodulin Polymorphism -33G>A on Acute Myocardial Infarction Risk and Circulating Inflammatory Markers.

Mehri S et al.

Anatolian Journal of Cardiology, 2025

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

Effect of thrombomodulin gene polymorphisms on venous thromboembolism: An analysis of evidence involving 6,629 patients.

Wang L et al.

Vascular, 2024

Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).

Heidari MM et al.

Gene, 2024

On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.

Huerta A et al.

Kidney International, 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

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease.

Singh A et al.

Molecular Biology Reports, 2022

Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study.

Manderstedt E et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease.

Khosravi E et al.

Acta Bio-medica : Atenei Parmensis, 2022

Thrombomodulin in patients with mild to moderate bleeding tendency.

Mehic D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

A novel homozygous variant of the thrombomodulin gene causes a hereditary bleeding disorder.

Osada M et al.

Blood Advances, 2021

The associations between THBD c.1418C>T polymorphism and lower extremity deep vein thrombosis or endothelial progenitor cell.

Zhang P et al.

International Angiology : a Journal of the International Union of Angiology, 2021

Thrombomodulin gene polymorphism and the occurrence and prognostic value of sepsis acute kidney injury.

Li Q et al.

Medicine, 2021

Kidney Thrombotic Microangiopathy After COVID-19 Associated With C3 Gene Mutation.

Mat O et al.

Kidney International Reports, 2021

Correlation between the Polymorphism of Coagulation-Related Genes and Lower Extremity Deep Venous Thrombosis.

Jiang YR et al.

Fa Yi Xue Za Zhi, 2021

Association of MnSOD gene polymorphism with susceptibility to Kawasaki disease in Chinese children.

Wu J et al.

Cardiology in the Young, 2021

A Thrombomodulin Promoter Gene Polymorphism, rs2239562, Influences Both Susceptibility to and Outcome of Sepsis.

Watanabe E et al.

Frontiers in Medicine, 2021

35083232 (PubMed )
Supplement: Table_1.xls › Sheet1

Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.

Yaoita N et al.

Journal of the American Heart Association, 2020

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.

Quintero-Ronderos P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2020

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.

Garam N et al.

Clinical Kidney Journal, 2020

32296528 (PubMed )
Supplement: sfz073_supplementary_data.pdf

Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Valoti E et al.

Frontiers in Immunology, 2019

Outcome of membranoproliferative glomerulonephritis and C3-glomerulopathy in children and adolescents.

Holle J et al.

Pediatric Nephrology (berlin, Germany), 2018

C3 glomerulopathy in cystic fibrosis: a case report.

Santoro D et al.

Bmc Nephrology, 2018

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss.

Arias-Sosa LA et al.

Journal of Assisted Reproduction and Genetics, 2018

Association of Thrombomodulin Gene C1418T Polymorphism with Susceptibility to Kawasaki Disease in Chinese Children.

Lu Y et al.

Disease Markers, 2018

THBD sequence variants potentially related to recurrent pregnancy loss.

Quintero-Ronderos P et al.

Reproductive Biology and Endocrinology : Rb&e, 2017

Genetics of Immune-Mediated Glomerular Diseases: Focus on Complement.

Noris M et al.

Seminars in Nephrology, 2017

Identification of Genetic Aberrations in Thrombomodulin Gene in Patients With Recurrent Venous Thromboembolism.

Ahmad A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

A Thrombomodulin Gene Polymorphism (C1418T) Is Associated with Early Outcomes in Patients Undergoing Coronary Artery Bypass Graft Surgery with a Conventional Cardiopulmonary Bypass during Hospitalization.

Pai CC et al.

Medicines (basel, Switzerland), 2017

Thrombomodulin gene c.1418C>T polymorphism and risk of recurrent venous thromboembolism.

Ahmad A et al.

Journal of Thrombosis and Thrombolysis, 2016

Association of Thrombomodulin Gene Polymorphisms with Susceptibility to Atherosclerotic Diseases: A Meta-Analysis.

Xu J et al.

Annals of Human Genetics, 2016

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.

Fan X et al.

International Journal of Hematology, 2016

Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.

Miyata T et al.

Thrombosis and Haemostasis, 2015

A donor thrombomodulin gene variation predicts graft-versus-host disease development and mortality after bone marrow transplantation.

Nomoto H et al.

International Journal of Hematology, 2015

Association between genetic polymorphisms and deep vein thrombosis in a Chinese population.

Jiang J et al.

Thrombosis Research, 2015

Role of Pharmacogenetics in Hematopoietic Stem Cell Transplantation Outcome in Children.

Franca R et al.

International Journal of Molecular Sciences, 2015

A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop).

Langdown J et al.

Blood, 2014

Functional analysis of two haplotypes of the human endothelial protein C receptor gene.

Medina P et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2014

Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.

Yin T et al.

Journal of Thrombosis and Thrombolysis, 2014

The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes.

Cao Y et al.

Gene, 2013

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X et al.

Molecular Immunology, 2013

Association of the thrombomodulin gene c.1418C>T polymorphism with thrombomodulin levels and with venous thrombosis risk.

Navarro S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

Common genetic risk factors for venous thrombosis in the Chinese population.

Tang L et al.

American Journal of Human Genetics, 2013

Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis.

Staines-Urias E et al.

International Journal of Epidemiology, 2012

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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."