Associated Papers
SARS-CoV-2 associated Complement genetic variants possibly deregulate the activation of the Alternative pathway affecting the severity of infection.
Tsiftsoglou SA
Molecular Immunology, 2021
High protein S activity due to C4b-binding protein deficiency in a 34-year-old Surinamese female with ischemic retinopathy.
Mulder R et al.
Clinical Case Reports, 2018
Complement Dysregulation and Disease: Insights from Contemporary Genetics.
Liszewski MK et al.
Annual Review of Pathology, 2017
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
Complement therapy in atypical haemolytic uraemic syndrome (aHUS).
Wong EK et al.
Molecular Immunology, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Genetics and complement in atypical HUS.
Kavanagh D et al.
Pediatric Nephrology (berlin, Germany), 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
21064102 (PubMed )
Supplement: supplement_1.pdf
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.
Bienaime F et al.
Kidney International, 2010
Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population.
Martínez-Barricarte R et al.
Clinical and Experimental Immunology, 2009
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.
Blom AM et al.
Journal of Immunology (baltimore, Md. : 1950), 2008
Update on evaluating complement in hemolytic uremic syndrome.
Kavanagh D et al.
Current Opinion in Nephrology and Hypertension, 2007
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