Associated Papers
Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants.
ten Brink SCA et al.
Stem Cell Reports, 2025
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR et al.
Human Molecular Genetics, 2023
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR et al.
Cancer Discovery, 2023
Off-label use of eculizumab for neurological symptoms and progressive vision loss.
Kuźniewska A et al.
Folia Neuropathologica, 2023
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Ceyhan-Birsoy O et al.
Genome Medicine, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar
A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome.
Java A et al.
Kidney International Reports, 2019
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Ryder B et al.
Jimd Reports, 2018
Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance.
Tortajada A et al.
Kidney International, 2012
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.
Kavanagh D et al.
Kidney International, 2012
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells.
Sjöberg AP et al.
The Journal of Biological Chemistry, 2007
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