Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.C35Y
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CD46

NM_172351.3:p.C35Y

Associated Papers

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

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

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

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

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

Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome.

Khandelwal P et al.

Clinical Kidney Journal, 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

Case report - atypical hemolytic uremic syndrome triggered by influenza B.

Kobbe R et al.

Bmc Nephrology, 2017

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 HUS associated with severe, unexpected antibody-mediated rejection post kidney transplant.

Stevenson S et al.

Nephrology (carlton, Vic.), 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 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

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Fakhouri F et al.

Journal of the American Society of Nephrology : Jasn, 2010

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE et al.

Human Mutation, 2007

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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."