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Novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein. This deletion was found in four family members presenting with a familial dominant glomerulopathy.
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Higher serum FHR-5 levels were associated with a lack of response to immunosuppression, the presence of endocapillary hypercellularity, and histology scores of IgA nephropathy severity.
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Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgA Nephropathy, which suggests that CFHR5 is an IgA Nephropathy susceptibility gene
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Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR5]
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Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
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In this study, we identify pentraxin 3 (PTX3) as a novel ligand of CFHR5
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At least two distinct intronic breakpoints within the CFHR5 gene can cause the same mutant CFHR5 protein and C3 glomerulopathy.
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A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.
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Recent investigations in London and Cyprus culminated in the identification of another autosomal dominant condition that presents with microscopic haematuria because of heterozygous mutations in the CFHR5 gene--{review}
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A potentially pathogenic sequence variation was found in CFHR5 in the patients with atypical hemolytic uremic syndrome.
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CFHR5 nephropathy is discussed.
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Describe the clinical course, significant variable expressivity, and marked gender difference regarding the development of chronic renal failure in familial C3 glomerulopathy associated with CFHR5 mutations.
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evidence for an inherited renal disease, endemic in Cyprus, characterised by microscopic and synpharyngitic macroscopic haematuria, renal failure and C3 glomerulonephritis; affected individuals have an internal duplication within the gene for CFHR5
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Study identified novel mutations in CFH, CFHR5, CFI, CFB and C3 in American patients with atypical hemolytic uremic syndrome.
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Maps to between FHR-2 and the non-complement protein factor XIIIb at 1q32.
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FHR-5 shares properties of binding heparin and C-reactive protein and lipoprotein association with one or more of the other FHRs, but is unique among this family of proteins in possessing independent complement-regulatory activity.
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Identification of specific variants of variants of CFHR5 in membranoproliferative glomerulonephritis type II.
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CFHR5 genetic alterations may play a secondary role in the pathogenesis of haemolytic uraemic syndrome.
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No definitive pathogenic CFHR5 mutations have been found in any of 639 unrelated patients with age-related macular degeneration (AMD), indicating that sequence variations in CFHR5 do not play a major role in determining AMD susceptibility.
