Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.Y189D
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CD46

NM_172351.3:p.Y189D

Associated Papers

A Case Report of Atypical Hemolytic Uremic Syndrome Presenting With Disseminated Intravascular Coagulation.

Brink HM et al.

Cureus, 2025

Atypical Hemolytic Uremic Syndrome Triggered by COVID-19 Infection in a Pediatric Patient With CD46 Mutation.

Lorestani P et al.

Clinical Case Reports, 2025

Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation.

Wang C et al.

Pediatric Nephrology (berlin, Germany), 2024

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Martin M et al.

Kidney International Reports, 2024

Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

Günay N et al.

Pediatric Nephrology (berlin, Germany), 2024

Atypical Hemolytic Uremic Syndrome: A Nationwide Colombian Pediatric Series.

Espitaleta Z et al.

Global Pediatric Health, 2024

Functional evaluation of rare variants in complement factor I using a minigene assay.

Donelson CJH et al.

Frontiers in Immunology, 2024

39238643 (PubMed )
Supplement: Datasheet1.pdf

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

FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

Mortensen Ó et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

37744338 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

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

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 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

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

Khandelwal P et al.

Clinical Kidney Journal, 2018

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

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

Greenbaum LA et al.

Kidney International, 2016

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.

Yoshida Y et al.

Plos One, 2015

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

Stevenson S et al.

Nephrology (carlton, Vic.), 2014

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X et al.

Molecular Immunology, 2013

Atypical hemolytic uremic syndrome with MCP mutations preceded by respiratory infection.

Yasuda K et al.

Cen Case Reports, 2013

Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 2011

Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.

Brackman D et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 2010

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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."