Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

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Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1015998603
P356DOI10.1038/JHG.2012.57
P932PMC publication ID3407369
P698PubMed publication ID22622361
P5875ResearchGate publication ID225058406

P50authorElena B VolokhinaQ42425280
Matthew C PickeringQ55692581
P2093author name stringLambert P van den Heuvel
Dineke Westra
Katherine A Vernon
Nicole C A J van de Kar
P2860cites workHuman factor H-related protein 5 (FHR-5). A new complement-associated proteinQ24290461
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisQ24615589
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)Q24655016
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcomeQ24685473
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)Q28271502
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndromeQ28283865
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the diseaseQ33357336
Familial haemolytic uraemic syndrome and an MCP mutationQ33357579
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndromeQ33361085
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.Q33364613
Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndromeQ33372755
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndromeQ33373674
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiencyQ33377384
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndromeQ33381182
Complement factor H related proteins in immune diseasesQ33384194
Thrombomodulin mutations in atypical hemolytic-uremic syndromeQ33385474
Atypical hemolytic-uremic syndromeQ33386736
Escherichia coliO157:H7 and the Hemolytic–Uremic SyndromeQ33488736
The pathogenesis and treatment of hemolytic uremic syndrome.Q33502711
Factor H-related protein-5: a novel component of human glomerular immune depositsQ34107748
Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein.Q34416754
Regulating complement in the kidney: insights from CFHR5 nephropathyQ35532337
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.Q37154954
Eculizumab for Atypical Hemolytic–Uremic SyndromeQ57636966
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectatypical hemolytic uremic syndromeQ17165460
P304page(s)459-464
P577publication date2012-05-24
P1433published inJournal of Human GeneticsQ6295302
P1476titleAtypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
P478volume57

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cites work (P2860)
Q33424946Atypical haemolytic uraemic syndrome treated with the complement inhibitor eculizumab: the experience of the Australian compassionate access cohort
Q56591965Atypical hemolytic uremic syndrome
Q38824060Atypical hemolytic uremic syndrome: a clinical conundrum
Q38057737C3 glomerulonephritis and CFHR5 nephropathy
Q33432063Complement and the kidney in the setting of Shiga-toxin hemolytic uremic syndrome, organ transplantation, and C3 glomerulonephritis
Q38066214Complement diagnostics: concepts, indications, and practical guidelines
Q26851489Complement factor H related proteins (CFHRs)
Q34508359Exploring the genetic basis of early-onset chronic kidney disease
Q47111288Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma
Q40161972Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation
Q33402007Increasing evidence that genetic variation in complement factor H related 5 (CFHR5) causes disease: a commentary on 'Atypical haemolytic uremic syndrome and genetic aberrations in the complement factor-H-related 5 gene'.
Q58566667Interpretation of Serological Complement Biomarkers in Disease
Q57193128Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
Q91950321Personalized medicine in chronic kidney disease by detection of monogenic mutations
Q40974164Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy
Q58803464Reference Intervals of Factor H and Factor H-Related Proteins in Healthy Children
Q92242808Regorafenib Prior to Selective Internal Radiation Therapy Using 90Y-Resin Microspheres for Refractory Metastatic Colorectal Cancer Liver Metastases: Analysis of Safety, Dosimetry, and Molecular Markers
Q33411571Renal function in normal and disordered pregnancy
Q37032691The Genetics of Ultra-Rare Renal Disease
Q90562836Thrombotic microangiopathy in a patient with eosinophilic granulomatosis with polyangiitis: case-based review

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