Associated Papers
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome.
Aradottir SS et al.
Pediatric Nephrology (berlin, Germany), 2024
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15
Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy.
Moscvin M et al.
Blood Cancer Journal, 2023
Atypical hemolytic uremic syndrome: Unique clinical presentation linked to rare CFHR5 mutation.
Menotti S et al.
Ejhaem, 2021
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
34260947 (PubMed )
Supplement: mmc2.xlsx › ST14
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T et al.
Journal of Clinical Immunology, 2020
32936395 (PubMed )
Supplement: 10875_2020_834_MOESM3_ESM.xlsx › Taul1
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Thergaonkar RW et al.
Clinical and Experimental Nephrology, 2018
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
Narendra U et al.
Molecular Vision, 2009
Factor H family proteins and human diseases.
Józsi M et al.
Trends in Immunology, 2008
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