Associated Papers
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.
Besbas N et al.
Bmc Nephrology, 2017
Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.
Forneris F et al.
The Embo Journal, 2016
The Genetics of Ultra-Rare Renal Disease.
Muff-Luett M et al.
Journal of Pediatric Genetics, 2016
Serum complement factor H and Tyr402 His gene polymorphism among Egyptians with multiple sclerosis.
Abdel Rasol HA et al.
Neurological Research, 2015
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
Valoti E et al.
Journal of the American Society of Nephrology : Jasn, 2015
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
Complement factor H gene (CFH) polymorphisms C-257T, G257A and haplotypes are associated with protection against severe dengue phenotype, possible related with high CFH expression.
Pastor AF et al.
Human Immunology, 2013
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.
Szilágyi A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations.
Leban N et al.
International Journal of Immunogenetics, 2012
A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome.
Sartz L et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.
Provaznikova D et al.
Pediatric Nephrology (berlin, Germany), 2012
von Willebrand factor: more than a regulator of hemostasis and thrombosis.
Luo GP et al.
Acta Haematologica, 2012
Plasma therapy for atypical haemolytic uraemic syndrome associated with heterozygous factor H mutations.
Kim JJ et al.
Pediatric Nephrology (berlin, Germany), 2011
aHUS caused by complement dysregulation: new therapies on the horizon.
Waters AM et al.
Pediatric Nephrology (berlin, Germany), 2011
IgA nephropathy associated with a novel N-terminal mutation in factor H.
Schmitt R et al.
European Journal of Pediatrics, 2011
Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.
Rodríguez de Córdoba S et al.
Biochimica Et Biophysica Acta, 2011
Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome.
Sánchez-Corral P et al.
British Journal of Haematology, 2010
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Westra D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
Sullivan M et al.
Annals of Human Genetics, 2010
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.
Tortajada A et al.
Human Molecular Genetics, 2009
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Lhotta K et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2009
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.
Ferreira VP et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.
Cruzado JM et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2009
Complement factor H allotype 402H is associated with increased C3b opsonization and phagocytosis of Streptococcus pyogenes.
Haapasalo K et al.
Molecular Microbiology, 2008
Advances in understanding of pathogenesis of aHUS and HELLP.
Fang CJ et al.
British Journal of Haematology, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
Update on evaluating complement in hemolytic uremic syndrome.
Kavanagh D et al.
Current Opinion in Nephrology and Hypertension, 2007
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
Sellier-Leclerc AL et al.
Journal of the American Society of Nephrology : Jasn, 2007
Pathogenesis and prognosis of thrombotic microangiopathy.
Nangaku M et al.
Clinical and Experimental Nephrology, 2007
Genetic analysis of human complement factor H polymorphisms.
Susukida R et al.
Electrophoresis, 2007
Complement dysfunction in hemolytic uremic syndrome.
Zipfel PF et al.
Current Opinion in Rheumatology, 2006
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.
Józsi M et al.
Journal of the American Society of Nephrology : Jasn, 2006
Two generations with familial thrombotic thrombocytopenic purpura.
Rodrigues RG
International Journal of Clinical Practice, 2006
Atypical haemolytic uraemic syndrome.
Kavanagh D et al.
British Medical Bulletin, 2006
Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.
Bíró A et al.
Molecular Diagnosis & Therapy, 2006
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
Fremeaux-Bacchi V et al.
Journal of Medical Genetics, 2005
Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.
Kavanagh D et al.
Journal of the American Society of Nephrology : Jasn, 2005
Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.
Noris M et al.
Journal of the American Society of Nephrology : Jasn, 2005
Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation.
Remuzzi G et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2005
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.
Esparza-Gordillo J et al.
Human Molecular Genetics, 2005
The human complement factor H: functional roles, genetic variations and disease associations.
Rodríguez de Córdoba S et al.
Molecular Immunology, 2004
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 disease.
Caprioli J et al.
Human Molecular Genetics, 2003
Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency.
Schmidt BZ et al.
The Journal of Biological Chemistry, 1999