Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.A296V
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CFHR1

NM_002113.3:p.A296V

Associated Papers

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

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

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.

Glover EK et al.

Transplantation, 2023

36413152 (PubMed )
Supplement: tp-107-994-s001.xlsx › 1._Not_treated_with_Eculizumab

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

The Factor H protein family: The switchers of the complement alternative pathway.

Lucientes-Continente L et al.

Immunological Reviews, 2023

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S et al.

Frontiers in Immunology, 2023

Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.

Márquez-Tirado B et al.

Journal of the American Society of Nephrology : Jasn, 2022

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

Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.

Martin Merinero H et al.

Blood, 2021

Deregulation of Factor H by Factor H-Related Protein 1 Depends on Sialylation of Host Surfaces.

Dopler A et al.

Frontiers in Immunology, 2021

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.

Goicoechea de Jorge E et al.

Journal of the American Society of Nephrology : Jasn, 2018

Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family.

Sánchez-Corral P et al.

Frontiers in Immunology, 2018

Eculizumab in secondary atypical haemolytic uraemic syndrome.

Cavero T et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017

Atypical HUS Associated with CFH/CFHR-1 Hybrid Gene.

Negi S et al.

Indian Journal of Nephrology, 0

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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."