Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.K65Q
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C3

NM_000064.4:p.K65Q

Associated Papers

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

Duineveld C et al.

Transplantation, 2025

39049128 (PubMed )
Supplement: tpa-109-511-s001.pdf

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

Ando M et al.

Frontiers in Pediatrics, 2025

A Cell-Based Assay to Measure the Activity of the Complement Convertases.

Stasiłojć M et al.

Kidney International Reports, 2024

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

38312782 (PubMed )
Supplement: mmc1.pdf

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.

Acar IE et al.

Investigative Ophthalmology & Visual Science, 2023

37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15

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

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

Huerta A et al.

Kidney International, 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

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

Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.

Heinz JL et al.

Frontiers in Molecular Neuroscience, 2023

COVID-19 vaccination and Atypical hemolytic uremic syndrome.

Bouwmeester RN et al.

Frontiers in Immunology, 2022

36531998 (PubMed )
Supplement: DataSheet_1.pdf

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

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

Outcome of atypical haemolytic uraemic syndrome relapse after eculizumab withdrawal.

Duineveld C et al.

Clinical Kidney Journal, 2021

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Ardissino G et al.

Kidney International Reports, 2021

34169201 (PubMed )
Supplement: mmc1.pdf

Atypical hemolytic uremic syndrome in Brazil: clinical presentation, genetic findings and outcomes of a case series in adults and children treated with eculizumab.

Palma LMP et al.

Clinical Kidney Journal, 2021

Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study.

Portoles J et al.

Clinical Kidney Journal, 2021

33841863 (PubMed )
Supplement: sfaa096_supplementary_data.zip › Supl_genetics_R2.docx

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

Wilson PC et al.

Kidney360, 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

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

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S3.xlsx › C3

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 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

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

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

Complement Dysregulation and Disease: Insights from Contemporary Genetics.

Liszewski MK et al.

Annual Review of Pathology, 2017

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

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

Adjustment of Eculizumab Dosage Pattern in Patients with Atypical Hemolytic Uremic Syndrome with Suboptimal Response to Standard Treatment Pattern.

García Monteavaro C et al.

Case Reports in Nephrology, 2016

[The genetic variability of complement system in pathogenesis of age-related macular degeneration].

Kubicka-Trząska A et al.

Klinika Oczna, 2015

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

Rodriguez E et al.

Bioscience Reports, 2014

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.

Duvvari MR et al.

Plos One, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.

Volokhina E et al.

Pediatric Nephrology (berlin, Germany), 2012

The Kaposi's sarcoma-associated herpesvirus complement control protein mimics human molecular mechanisms for inhibition of the complement system.

Mark L et al.

The Journal of Biological Chemistry, 2004

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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."