Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.R96Splc
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CD46

NM_172351.3:p.R96Splc

Associated Papers

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

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.

Lazaro-Guevara J et al.

American Journal of Nephrology, 2021

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

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

Merinero HM et al.

Kidney International, 2018

Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.

Bhatia D et al.

Pediatric Nephrology (berlin, Germany), 2015

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

Complement therapy in atypical haemolytic uraemic syndrome (aHUS).

Wong EK et al.

Molecular Immunology, 2013

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

The CD46-Jagged1 interaction is critical for human TH1 immunity.

Le Friec G et al.

Nature Immunology, 2012

23086448 (PubMed )
Supplement: NIHMS50014-supplement-1.pdf

Early treatment with eculizumab in atypical haemolytic uraemic syndrome.

Garjau M et al.

Clinical Kidney Journal, 2012

Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.

Couzi L et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A et al.

Molecular Immunology, 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."