Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.R59*
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CD46

NM_172351.3:p.R59*

Associated Papers

Moss-produced human complement factor H with modified glycans has an extended half-life and improved biological activity.

Tschongov T et al.

Frontiers in Immunology, 2024

38799460 (PubMed )
Supplement: DataSheet_1.docx

Epidemiology, Management, and Outcome of Atypical Hemolytic Uremic Syndrome in an Omani Cohort.

Al Riyami D et al.

Oman Medical Journal, 2023

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

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

The long-acting C5 inhibitor, ravulizumab, is efficacious and safe in pediatric patients with atypical hemolytic uremic syndrome previously treated with eculizumab.

Tanaka K et al.

Pediatric Nephrology (berlin, Germany), 2021

Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.

Piras R et al.

Frontiers in Medicine, 2020

Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome.

Greenbaum LA et al.

Kidney International, 2016

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.

Kolev M et al.

Immunity, 2015

26084023 (PubMed )
Supplement: mmc1.pdf

Complement regulator CD46: genetic variants and disease associations.

Liszewski MK et al.

Human Genomics, 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

A complementary component to atypical haemolytic uraemic syndrome.

Gandhi V et al.

Bmj Case Reports, 2013

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E et al.

Journal of the American Society of Nephrology : Jasn, 2013

Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 2011

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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."