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Bernadett Blaskó - One of the best experts on this subject based on the ideXlab platform.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular Diagnosis & Therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene ( CFH ; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration. MetHods and Results: THe aim of tHis study was to develop a rapid and reliable assay for determining genotypic variants of tHe CFH gene. Sequence-specific primer PCR and restriction fragment lengtH polymorpHism tecHniques were cHosen for tHe analysis of CFH polymorpHisms. THe assays detected tHe following publisHed single nucleotide polymorpHisms of CFH in our Caucasian population (n = 271): rs800292, 257G→A (V62I); rs1061170, 1277T→C (Y402H); and rs1065489, 2881G→T (E936D). THe allele frequencies (257G = 0.850, 1277T = 0.574, and 2881G = 0.839) tHat we obtained from a HealtHy Hungarian population were consistent witH previously publisHed results. Conclusion: THese analytical metHods are simple, reliable, and rapid to perform, and are amenable to automation. THerefore, tHey could facilitate large-scale genotypic analyses of tHe CFH gene in various diseases, sucH as Hemolytic-uremic syndrome, age-related macular degeneration, and cardiovascular diseases.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular diagnosis & therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene (CFH; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration.
Marina Noris - One of the best experts on this subject based on the ideXlab platform.
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THe Complement Factor H R1210C Mutation Is Associated WitH Atypical Hemolytic Uremic Syndrome
Journal of the American Society of Nephrology : JASN, 2008Co-Authors: Rubén Martínez-barricarte, Timothy H.j. Goodship, Lisa Strain, Christine Skerka, Peter F Zipfel, Joachim Misselwitz, Véronique Frémeaux-bacchi, Gaia Pianetti, Ruxandra Gautard, Marina NorisAbstract:Mutations in tHe gene encoding Complement Factor H (CFH) tHat alter tHe C3b/polyanions-binding site in tHe C-terminal region impair tHe capacity of Factor H to protect Host cells. THese mutations are also strongly associated witH atypical Hemolytic uremic syndrome (aHUS). AltHougH most of tHe aHUS-associated CFH mutations seem "unique" to an individual patient or family, tHe R1210C mutation Has been reported in several unrelated aHUS patients from distinct geograpHic origins. Five aHUS pedigrees and 7 individual aHUS patients were analyzed to identify potential correlations between tHe R1210C mutation and clinical pHenotype and to cHaracterize tHe origins of tHis mutation. THe clinical pHenotype of aHUS patients carrying tHe R1210C mutation was Heterogeneous. Interestingly, 12 of tHe 13 affected patients carried at least one additional known genetic risk Factor for aHUS. THese data are in accord witH tHe 30% penetrance of aHUS in R1210C mutation carriers, as it seems tHat tHe presence of otHer genetic or environmental risk Factors significantly contribute to tHe manifestation and severity of aHUS in tHese subjects. Genotype analysis of CFH and CFHR3 polymorpHisms in tHe 12 unrelated carriers suggested tHat tHe R1210C mutation Has a single origin. In conclusion, tHe R1210C mutation of Complement Factor H is a prototypical aHUS mutation tHat is present as a rare polymorpHism in geograpHically separated Human populations.
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Translational Mini‐Review Series on Complement Factor H: THerapies of renal diseases associated witH Complement Factor H abnormalities: atypical Haemolytic uraemic syndrome and membranoproliferative glomerulonepHritis
Clinical and experimental immunology, 2007Co-Authors: Marina Noris, G. RemuzziAbstract:Genetic and acquired abnormalities in Complement Factor H (CFH) Have been associated witH two different Human renal diseases: Haemolytic uraemic syndrome and membrano proliferative glomerulonepHritis. THe new genetic and patHogenetic findings in tHese diseases and tHeir clinical implications for tHe management and cure of patients are reviewed in tHis paper.
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Genetic analysis of tHe Complement Factor H related 5 gene in Haemolytic uraemic syndrome
Molecular immunology, 2006Co-Authors: G. Monteferrante, G. Remuzzi, Gaia Pianetti, Simona Brioschi, Jessica Caprioli, Paola Bettinaglio, Elena Bresin, Marina NorisAbstract:Several mutations in tHe CFH gene Have been described in non-SHiga-toxin-associated Haemolytic uraemic syndrome (non-Stx-HUS), a rare syndrome cHaracterized by Haemolytic anaemia, tHrombocytopenia and acute renal failure. Mutations in genes encoding otHer Complement regulatory proteins, membrane coFactor protein (CD46) and Complement Factor I (CFI), were also involved in tHe patHogenesis of tHe disease. Anyway, mutations in tHe tHree genes account for no more tHan 50% of cases of non-Stx-HUS. Human Complement Factor H related 5 (CFHR5) is a recently cHaracterised member of tHe Human Complement Factor H (CFH) family tHat Has been found as a component of immune deposits in Human kidney witH sclerotic lesions from different causes. CFHR5 possesses coFactor activity and Has been proposed to play a role in Complement regulation in tHe glomerulus. We screened CFHR5 gene for variations potentially involved in tHe aetiology of HUS. Forty-five patients witH HUS and 80 controls were analysed. AltogetHer, 5 genetic variants in CFHR5 were found in overall 9/45 HUS patients and in 4/80 controls. Statistical analysis sHowed tHat allelic variants in CFHR5 were prefentially associated witH HUS. Based on tHese data, we conclude tHat, tHougH not causative, CFHR5 genetic alterations may play a secondary role in tHe patHogenesis of HUS.
Adrienn Bíró - One of the best experts on this subject based on the ideXlab platform.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular Diagnosis & Therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene ( CFH ; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration. MetHods and Results: THe aim of tHis study was to develop a rapid and reliable assay for determining genotypic variants of tHe CFH gene. Sequence-specific primer PCR and restriction fragment lengtH polymorpHism tecHniques were cHosen for tHe analysis of CFH polymorpHisms. THe assays detected tHe following publisHed single nucleotide polymorpHisms of CFH in our Caucasian population (n = 271): rs800292, 257G→A (V62I); rs1061170, 1277T→C (Y402H); and rs1065489, 2881G→T (E936D). THe allele frequencies (257G = 0.850, 1277T = 0.574, and 2881G = 0.839) tHat we obtained from a HealtHy Hungarian population were consistent witH previously publisHed results. Conclusion: THese analytical metHods are simple, reliable, and rapid to perform, and are amenable to automation. THerefore, tHey could facilitate large-scale genotypic analyses of tHe CFH gene in various diseases, sucH as Hemolytic-uremic syndrome, age-related macular degeneration, and cardiovascular diseases.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular diagnosis & therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene (CFH; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration.
G. Remuzzi - One of the best experts on this subject based on the ideXlab platform.
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Translational Mini‐Review Series on Complement Factor H: THerapies of renal diseases associated witH Complement Factor H abnormalities: atypical Haemolytic uraemic syndrome and membranoproliferative glomerulonepHritis
Clinical and experimental immunology, 2007Co-Authors: Marina Noris, G. RemuzziAbstract:Genetic and acquired abnormalities in Complement Factor H (CFH) Have been associated witH two different Human renal diseases: Haemolytic uraemic syndrome and membrano proliferative glomerulonepHritis. THe new genetic and patHogenetic findings in tHese diseases and tHeir clinical implications for tHe management and cure of patients are reviewed in tHis paper.
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Genetic analysis of tHe Complement Factor H related 5 gene in Haemolytic uraemic syndrome
Molecular immunology, 2006Co-Authors: G. Monteferrante, G. Remuzzi, Gaia Pianetti, Simona Brioschi, Jessica Caprioli, Paola Bettinaglio, Elena Bresin, Marina NorisAbstract:Several mutations in tHe CFH gene Have been described in non-SHiga-toxin-associated Haemolytic uraemic syndrome (non-Stx-HUS), a rare syndrome cHaracterized by Haemolytic anaemia, tHrombocytopenia and acute renal failure. Mutations in genes encoding otHer Complement regulatory proteins, membrane coFactor protein (CD46) and Complement Factor I (CFI), were also involved in tHe patHogenesis of tHe disease. Anyway, mutations in tHe tHree genes account for no more tHan 50% of cases of non-Stx-HUS. Human Complement Factor H related 5 (CFHR5) is a recently cHaracterised member of tHe Human Complement Factor H (CFH) family tHat Has been found as a component of immune deposits in Human kidney witH sclerotic lesions from different causes. CFHR5 possesses coFactor activity and Has been proposed to play a role in Complement regulation in tHe glomerulus. We screened CFHR5 gene for variations potentially involved in tHe aetiology of HUS. Forty-five patients witH HUS and 80 controls were analysed. AltogetHer, 5 genetic variants in CFHR5 were found in overall 9/45 HUS patients and in 4/80 controls. Statistical analysis sHowed tHat allelic variants in CFHR5 were prefentially associated witH HUS. Based on tHese data, we conclude tHat, tHougH not causative, CFHR5 genetic alterations may play a secondary role in tHe patHogenesis of HUS.
Zoltán Prohászka - One of the best experts on this subject based on the ideXlab platform.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular Diagnosis & Therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene ( CFH ; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration. MetHods and Results: THe aim of tHis study was to develop a rapid and reliable assay for determining genotypic variants of tHe CFH gene. Sequence-specific primer PCR and restriction fragment lengtH polymorpHism tecHniques were cHosen for tHe analysis of CFH polymorpHisms. THe assays detected tHe following publisHed single nucleotide polymorpHisms of CFH in our Caucasian population (n = 271): rs800292, 257G→A (V62I); rs1061170, 1277T→C (Y402H); and rs1065489, 2881G→T (E936D). THe allele frequencies (257G = 0.850, 1277T = 0.574, and 2881G = 0.839) tHat we obtained from a HealtHy Hungarian population were consistent witH previously publisHed results. Conclusion: THese analytical metHods are simple, reliable, and rapid to perform, and are amenable to automation. THerefore, tHey could facilitate large-scale genotypic analyses of tHe CFH gene in various diseases, sucH as Hemolytic-uremic syndrome, age-related macular degeneration, and cardiovascular diseases.
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Determination of Complement Factor H Functional PolymorpHisms (V62I, Y402H, and E936D) using Sequence-Specific Primer PCR and Restriction Fragment LengtH PolymorpHisms
Molecular diagnosis & therapy, 2006Co-Authors: Adrienn Bíró, Zoltán Prohászka, George Füst, Bernadett BlaskóAbstract:Background: Complement Factor H (CFH; HF) is an essential regulatory protein tHat plays a critical role in tHe Homeostasis of tHe Complement system in plasma. Several polymorpHisms and mutations in tHe Complement Factor H gene (CFH; HF1) Have been identified. THese Have revealed interesting associations witH Hemolytic-uremic syndrome and age-related macular degeneration.