Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.A43T
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THBD

NM_000361.3:p.A43T

Associated Papers

Thrombotic Microangiopathy After Kidney Transplantation: Insights Into Genetic Etiology and Clinical Outcomes.

Merzkani M et al.

Kidney International Reports, 2025

40303217 (PubMed )
Supplement: mmc1.pdf

Targeting complement dysregulation: eculizumab in scleroderma renal crisis management-a case-based review.

Toker Dincer Z et al.

Rheumatology International, 2024

Inborn errors of immunity with kidney and urinary tract disorders: a review.

Shajari A et al.

International Urology and Nephrology, 2024

Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.

Kaufeld JK et al.

Kidney International Reports, 2024

Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.

Riguetti MTP et al.

Nephron, 2024

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

Huerta A et al.

Kidney International, 2023

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.

Turudic D et al.

International Journal of Molecular Sciences, 2023

Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2023

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

37744338 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

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

Li Q et al.

Medicine, 2021

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

The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report.

Lumbreras J et al.

Frontiers in Immunology, 2020

Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.

Frémeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome.

Sridharan M et al.

Mayo Clinic Proceedings, 2018

Complement-mediated thrombotic microangiopathy associated with lupus nephritis.

Park MH et al.

Blood Advances, 2018

Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.

Vaught AJ et al.

Jci Insight, 2018

Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome.

van den Heuvel L et al.

Journal of Human Genetics, 2018

Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Gaut JP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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

A Prothrombotic Score Based on Genetic Polymorphisms of the Hemostatic System Differs in Patients with Ischemic Stroke, Myocardial Infarction, or Peripheral Arterial Occlusive Disease.

Herm J et al.

Frontiers in Cardiovascular Medicine, 2017

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.

Volokhina EB et al.

Clinical and Experimental Immunology, 2015

Discontinuation of eculizumab treatment in atypical hemolytic uremic syndrome: an update.

Ardissino G et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

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 role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.

Szilágyi A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Fremeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

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

Tang L et al.

American Journal of Human Genetics, 2013

[Pathophysiology of atypical hemolytic uremic syndrome. Ten years of progress, from laboratory to patient].

Frémeaux-Bacchi V

Biologie Aujourd'hui, 2013

Role of thrombomodulin gene in Indian population with coronary artery disease.

Shah SA et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2012

Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.

Anastasiou G et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012

Thrombomodulin mutations in atypical hemolytic-uremic syndrome.

Delvaeye M et al.

The New England Journal of Medicine, 2009

The genomic basis of cerebral palsy: a HuGE systematic literature review.

O'Callaghan ME et al.

Human Genetics, 2009

Genetic polymorphisms and spontaneous preterm birth.

Gibson CS et al.

Obstetrics and Gynecology, 2007

Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population.

Hoppe B et al.

Thrombosis and Haemostasis, 2006

Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.

Kunz G et al.

Blood, 2002

Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.

Le Flem L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2001

Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnant woman homozygous for factor V Leiden and heterozygous for the G127-->a mutation in the thrombomodulin gene.

Magdelaine A et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2000

Inherited abnormalities in the protein C activation pathway.

España F et al.

Pathophysiology of Haemostasis and Thrombosis, 0

[Comparison of three reactants for the detection of activated protein C resistance due to mutation of factor V Leiden during pregnancy].

Magdelaine A et al.

Annales De Biologie Clinique, 0

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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."