Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.I416L
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CFI

NM_000204.5:p.I416L

Associated Papers

Alternative splicing and the aging brain in AfrAbia: New frontiers in dementia research.

Aremu SA

Ibro Neuroscience Reports, 2025

Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.

Hallam TM et al.

The Journal of Biological Chemistry, 2024

38852887 (PubMed )
Supplement: mmc1.docx

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

Role of the I416L Variant of Complement Factor I in Thrombotic Microangiopathy Among Patients of African Ancestry.

Nobile G et al.

Kidney International Reports, 2023

Rare Variants in Complement Genes May Not Be That Rare After All.

Timmermans SAMEG et al.

Kidney International Reports, 2023

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

A single-center experience of post-transplant atypical hemolytic uremic syndrome.

Abu Jawdeh BG et al.

Clinical Nephrology, 2023

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS

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

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy.

Gloude NJ et al.

Journal of Clinical Immunology, 2020

Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Aigner C et al.

Journal of Clinical Medicine, 2020

32244370 (PubMed )
Supplement: jcm-09-00964-s001.pdf

Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.

Jlajla H et al.

Nephrology (carlton, Vic.), 2019

A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.

Tao J et al.

Bmc Nephrology, 2018

Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.

Vaught AJ et al.

Jci Insight, 2018

Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Larsen CP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome.

Gaggl M et al.

Journal of the American Society of Nephrology : Jasn, 2018

Complement Regulatory Genetic Mutations in the Setting of Autoimmune Thrombotic Thrombocytopenic Purpura: A Case Series.

Atrash S et al.

Mayo Clinic Proceedings. Innovations, Quality & Outcomes, 2018

A case of atypical hemolytic uremic syndrome in a second renal transplant.

Zwang NA et al.

Journal of Nephrology, 2018

Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy.

Ardissino G et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2017

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ et al.

Immunobiology, 2016

Making sense of the spectrum of glomerular disease associated with complement dysregulation.

Johnson SA et al.

Pediatric Nephrology (berlin, Germany), 2014

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Fremeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.

Bienaime F et al.

Kidney International, 2010

Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.

Le Quintrec M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2008

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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."