Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

(2014) Yi Yu et al.   HUMAN MOLECULAR GENETICS

Nature and nurture- genes and environment- predict onset and progression of macular degeneration

(2014) Lucia Sobrin et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults

(2013) V. Fremeaux-Bacchi et al.   Clinical Journal of the American Society of Nephrology

Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype

(2013) E. Bresin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Complement therapy in atypical haemolytic uraemic syndrome (aHUS)

(2013) Edwin K.S. Wong et al.   MOLECULAR IMMUNOLOGY

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

(2013) Johanna M Seddon et al.   NATURE GENETICS

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

(2013) Johannes P H van de Ven et al.   NATURE GENETICS

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE GENETICS

Atypical Hemolytic Uremic Syndrome

(2013) David Kavanagh et al.   SEMINARS IN NEPHROLOGY

Age-related macular degeneration

(2012) Laurence S Lim et al.   LANCET

Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation

(2012) F. Semsa Caycı et al.   PEDIATRIC NEPHROLOGY

The complotype: dictating risk for inflammation and infection

(2012) Claire L. Harris et al.   TRENDS IN IMMUNOLOGY

Complement factor I in health and disease

(2011) Sara C. Nilsson et al.   MOLECULAR IMMUNOLOGY

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Risk Models for Progression to Advanced Age-Related Macular Degeneration Using Demographic, Environmental, Genetic, and Ocular Factors

(2011) Johanna M. Seddon et al.   OPHTHALMOLOGY

Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype

(2010) M. Noris et al.   Clinical Journal of the American Society of Nephrology

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

(2010) Tara K. Maga et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)

(2010) D. Westra et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Epidemiological Approach to Identifying Genetic Predispositions for Atypical Hemolytic Uremic Syndrome

(2009) Maren Sullivan et al.   ANNALS OF HUMAN GENETICS

Support for the involvement of complement factor I in age-related macular degeneration

(2009) Sarah Ennis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I

(2009) Sara C. Nilsson et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

The Binding of Factor H to a Complex of Physiological Polyanions and C3b on Cells Is Impaired in Atypical Hemolytic Uremic Syndrome

(2009) V. P. Ferreira et al.   JOURNAL OF IMMUNOLOGY

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome

(2009) Frank Bienaime et al.   KIDNEY INTERNATIONAL

Complement Mutation-AssociatedDe NovoThrombotic Microangiopathy Following Kidney Transplantation

(2008) M. Le Quintrec et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Variation near complement factor I is associated with risk of advanced AMD

(2008) Jesen A Fagerness et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

(2007) David Kavanagh et al.   MOLECULAR IMMUNOLOGY