Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.R161W
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C3

NM_000064.4:p.R161W

Associated Papers

Influence of Glutathione S-transferase Mu 1 (GSTM1), Glutathione S-transferase Theta 1 (GSTT1), and N-acetyltransferase 2 (NAT2) Variants on Bladder Cancer Progression and Recurrence Rating: A Bosnian and Herzegovinian Case-Control Study.

Hadziosmanovic O et al.

Cureus, 2025

Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.

Duineveld C et al.

Transplantation, 2025

Atypical hemolytic uremic syndrome with a C3 variant following COVID-19: a case report.

Ando M et al.

Frontiers in Pediatrics, 2025

C3 mutations and poor pegcetacoplan response in paroxysmal nocturnal hemoglobinuria.

Rodríguez de Córdoba S et al.

Frontiers in Immunology, 2025

Ex Vivo Test of Complement Dysregulation in Atypical Hemolytic Uremic Syndrome Kidney Transplant patients: A Pilot Study.

Duineveld C et al.

Kidney International Reports, 2024

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Rare Variants in Complement Genes May Not Be That Rare After All.

Timmermans SAMEG et al.

Kidney International Reports, 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

Eculizumab Rescue Therapy in Patients With Recurrent Atypical Hemolytic Uremic Syndrome After Kidney Transplantation.

Duineveld C et al.

Kidney International Reports, 2023

Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report.

Claes KJ et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.

Bouwmeester RN et al.

Kidney International Reports, 2023

36644349 (PubMed )
Supplement: mmc1.pdf

Modeling complement activation on human glomerular microvascular endothelial cells.

Stevens KH et al.

Frontiers in Immunology, 2023

[Diagnostic clues in atypical hemolytic uremic syndrome: a case report].

Luquin Irigoyen M et al.

Anales Del Sistema Sanitario De Navarra, 2022

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

COVID-19 vaccination and Atypical hemolytic uremic syndrome.

Bouwmeester RN et al.

Frontiers in Immunology, 2022

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

34189567 (PubMed )
Supplement: 10.1182-2021012037_bloodbld2021012037-suppl1.pdf

Genetic Risk in Families with Age-Related Macular Degeneration.

de Breuk A et al.

Ophthalmology Science, 2021

Outcome of atypical haemolytic uraemic syndrome relapse after eculizumab withdrawal.

Duineveld C et al.

Clinical Kidney Journal, 2021

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

Mat O et al.

Kidney International Reports, 2021

Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Timmermans SAMEG et al.

Kidney International Reports, 2021

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.

Karava V et al.

Children (basel, Switzerland), 2021

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.

Wilson PC et al.

Kidney360, 2020

The natural course of pregnancies in women with primary atypical haemolytic uraemic syndrome and asymptomatic relatives.

Timmermans SAMEG et al.

British Journal of Haematology, 2020

Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.

Timmermans SAMEG et al.

Hypertension (dallas, Tex. : 1979), 2020

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

Pathogenesis of Atypical Hemolytic Uremic Syndrome.

Yoshida Y et al.

Journal of Atherosclerosis and Thrombosis, 2019

Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.

Topaloglu R et al.

Nephron, 2019

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.

Timmermans SAMEG et al.

Journal of the American Society of Nephrology : Jasn, 2018

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Maugeri A et al.

Biomed Research International, 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

Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence.

Levi C et al.

Transplantation, 2017

Patients with hypertension-associated thrombotic microangiopathy may present with complement abnormalities.

Timmermans SAMEG et al.

Kidney International, 2017

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

Geerlings MJ et al.

Jama Ophthalmology, 2017

Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.

de Córdoba SR

Immunobiology, 2016

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome.

Siomou E et al.

Pediatric Nephrology (berlin, Germany), 2016

Sensitive, reliable and easy-performed laboratory monitoring of eculizumab therapy in atypical hemolytic uremic syndrome.

Volokhina EB et al.

Clinical Immunology (orlando, Fla.), 2015

Structural insights on complement activation.

Alcorlo M et al.

The Febs Journal, 2015

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

Volokhina EB et al.

Clinical and Experimental Immunology, 2015

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