Genetic variability shapes the alternative pathway complement activity and predisposition to complement‐related diseases

Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) in Advanced Age-related Macular Degeneration (AMD)

(2022) Anuja Java et al.   HUMAN MOLECULAR GENETICS

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank

(2022) Nikolaos Tzoumas et al.   HUMAN MOLECULAR GENETICS

Factor H–Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy

(2022) Bárbara Márquez-Tirado et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Complement Factor I Variants in Complement-Mediated Renal Diseases

(2022) Yuzhou Zhang et al.   Frontiers in Immunology

The molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.

(2021) Hector Martin Merinero et al.   BLOOD

Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics

(2021) Fadi Fakhouri et al.   Nature Reviews Nephrology

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations

(2021) Valentina Cipriani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration

(2021) Laura Lorés-Motta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of 105 Factor H variants associated with atypical HUS: lessons for variant classification.

(2021) Hector Martin Merinero et al.   BLOOD

Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration

(2021) I. Erkin Acar et al.   Journal of Personalized Medicine

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

(2020) Valentina Cipriani et al.   Nature Communications

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration

(2020) Luz D. Orozco et al.   Cell Reports

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

The familial risk of developing atypical Hemolytic Uremic Syndrome.

(2020) Emilia Arjona et al.   BLOOD

Is the atypical hemolytic uremic syndrome risk polymorphism in Membrane Cofactor Protein MCPggaac relevant in kidney transplantation? A case report

(2020) Ana Sánchez‐Moreno et al.   PEDIATRIC TRANSPLANTATION

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

(2019) Rinki Ratnapriya et al.   NATURE GENETICS

Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors

(2019) Alice Le Clech et al.   KIDNEY INTERNATIONAL

Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice

(2019) Kate Smith-Jackson et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical and Immunological Profile of Anti-factor H Antibody Associated Atypical Hemolytic Uremic Syndrome: A Nationwide Database

(2019) Mamta Puraswani et al.   Frontiers in Immunology

Looking back on the alternative complement pathway

(2018) Peter J. Lachmann   IMMUNOBIOLOGY

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

(2018) Amy J. Osborne et al.   JOURNAL OF IMMUNOLOGY

Diseases of complement dysregulation—an overview

(2018) Edwin K. S. Wong et al.   Seminars in Immunopathology

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

(2018) Tobias Strunz et al.   Scientific Reports

High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B

(2018) Richard B. Pouw et al.   Frontiers in Immunology

Molecular Mechanisms of Macular Degeneration Associated with the Complement Factor H Y402H Mutation

(2018) Reed E.S. Harrison et al.   BIOPHYSICAL JOURNAL

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

(2017) Marilyn M. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome

(2017) Elena Goicoechea de Jorge et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy

(2017) Shambhuprasad K. Togarsimalemath et al.   KIDNEY INTERNATIONAL

Ionic tethering contributes to the conformational stability and function of complement C3b

(2017) Andrés López-Perrote et al.   MOLECULAR IMMUNOLOGY

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

(2017) Ahmet Ozen et al.   NEW ENGLAND JOURNAL OF MEDICINE

The properdin pathway: an “alternative activation pathway” or a “critical amplification loop” for C3 and C5 activation?

(2017) Richard A. Harrison   Seminars in Immunopathology

Paroxysmal nocturnal haemoglobinuria

(2017) Anita Hill et al.   Nature Reviews Disease Primers

Complement genetics and susceptibility to inflammatory disease. Lessons from genotype–phenotype correlations

(2016) Santiago Rodríguez de Córdoba   IMMUNOBIOLOGY

Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene

(2016) Xue Xiao et al.   MOLECULAR IMMUNOLOGY

Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome

(2015) E. C. Schramm et al.   BLOOD

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H

(2015) S. Chauvet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases

(2015) S. Recalde et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome

(2015) Maria E. Bernabéu-Herrero et al.   MOLECULAR IMMUNOLOGY

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome

(2015) Rubén Martínez-Barricarte et al.   MOLECULAR IMMUNOLOGY

aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome

(2015) Ekaterini Siomou et al.   PEDIATRIC NEPHROLOGY

Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation

(2014) Takeshi Matsumoto et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

A Revised Mechanism for the Activation of Complement C3 to C3b

(2014) Elizabeth Rodriguez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

(2014) Francis H Sansbury et al.   JOURNAL OF MEDICAL GENETICS

A Novel Atypical Hemolytic Uremic Syndrome-Associated Hybrid CFHR1/CFH Gene Encoding a Fusion Protein That Antagonizes Factor H-Dependent Complement Regulation

(2014) E. Valoti et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Structural basis for sialic acid–mediated self-recognition by complement factor H

(2014) Bärbel S Blaum et al.   Nature Chemical Biology

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Competition between antagonistic complement factors for a single protein on N. meningitidis rules disease susceptibility

(2014) Joseph JE Caesar et al.   eLife

Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria

(2013) T. Rondelli et al.   HAEMATOLOGICA

C3 glomerulopathy–associated CFHR1 mutation alters FHR oligomerization and complement regulation

(2013) Agustín Tortajada et al.   JOURNAL OF CLINICAL INVESTIGATION

Complement factor H–related hybrid protein deregulates complement in dense deposit disease

(2013) Qian Chen et al.   JOURNAL OF CLINICAL INVESTIGATION

Complement in Immune and Inflammatory Disorders: Pathophysiological Mechanisms

(2013) D. Ricklin et al.   JOURNAL OF IMMUNOLOGY

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

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

A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry

(2013) Nicholas Medjeral-Thomas et al.   KIDNEY INTERNATIONAL

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

Deficiency in Complement Factor B

(2013) Charlotte Slade et al.   NEW ENGLAND JOURNAL OF MEDICINE

Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32

(2013) Lucy V. Holmes et al.   PLoS One

A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

(2012) L. T. Roumenina et al.   BLOOD

Complement dysregulation and disease: From genes and proteins to diagnostics and drugs

(2012) Santiago Rodriguez de Cordoba et al.   IMMUNOBIOLOGY

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

(2012) Dineke Westra et al.   JOURNAL OF HUMAN GENETICS

Structural Analysis of the C-Terminal Region (Modules 18–20) of Complement Regulator Factor H (FH)

(2012) Hugh P. Morgan et al.   PLoS One

The complotype: dictating risk for inflammation and infection

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

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

(2011) N. J. Francis et al.   BLOOD

Genetic CD21 deficiency is associated with hypogammaglobulinemia

(2011) Jens Thiel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Complement factor I in health and disease

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

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

(2011) David Weismann et al.   NATURE

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

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Genome-wide association study identifies susceptibility loci for IgA nephropathy

(2011) Ali G Gharavi et al.   NATURE GENETICS

Structural basis for engagement by complement factor H of C3b on a self surface

(2011) Hugh P Morgan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

(2011) Dzenita Smailhodzic et al.   OPHTHALMOLOGY

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

(2011) M. Heurich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement

(2011) T. Kajander et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility

(2011) Jian Zhao et al.   PLoS Genetics

Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway

(2010) Santiago Rodríguez de Córdoba et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

(2010) Rubén Martínez-Barricarte et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

(2010) Daniel P Gale et al.   LANCET

Both domain 19 and domain 20 of factor H are involved in binding to complement C3b and C3d

(2010) Arnab Bhattacharjee et al.   MOLECULAR IMMUNOLOGY

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

(2010) Sonia Davila et al.   NATURE GENETICS

Complement: a key system for immune surveillance and homeostasis

(2010) Daniel Ricklin et al.   NATURE IMMUNOLOGY

Structure of the Extracellular Portion of CD46 Provides Insights into Its Interactions with Complement Proteins and Pathogens

(2010) B. David Persson et al.   PLoS Pathogens

Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome

(2009) L. T. Roumenina et al.   BLOOD

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

(2009) C. Abarrategui-Garrido et al.   BLOOD

Genetic control of the alternative pathway of complement in humans and age-related macular degeneration

(2009) Laura A. Hecker et al.   HUMAN MOLECULAR GENETICS

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

(2009) A. Tortajada et al.   HUMAN MOLECULAR GENETICS

Mutations of Factor H Impair Regulation of Surface-bound C3b by Three Mechanisms in Atypical Hemolytic Uremic Syndrome

(2009) Markus J. Lehtinen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome

(2009) M-A Dragon-Durey et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Frank Bienaime et al.   KIDNEY INTERNATIONAL

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

(2009) Jean-Charles Lambert et al.   NATURE GENETICS

Structure of complement fragment C3b–factor H and implications for host protection by complement regulators

(2009) Jin Wu et al.   NATURE IMMUNOLOGY

Eculizumab for Atypical Hemolytic–Uremic Syndrome

(2009) Jens Nürnberger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Eculizumab for Congenital Atypical Hemolytic–Uremic Syndrome

(2009) Ralph A. Gruppo et al.   NEW ENGLAND JOURNAL OF MEDICINE

3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase

(2009) Eva Torreira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

(2009) T. Montes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Complement activation and inhibition: a delicate balance

(2009) A.P. Sjöberg et al.   TRENDS IN IMMUNOLOGY

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

(2008) V. Fremeaux-Bacchi et al.   BLOOD

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

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

The spectrum of complement alternative pathway-mediated diseases

(2008) V. Michael Holers   IMMUNOLOGICAL REVIEWS

The Complement Factor H R1210C Mutation Is Associated With Atypical Hemolytic Uremic Syndrome

(2008) R. Martinez-Barricarte et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Factor H family proteins and human diseases

(2008) Mihály Józsi et al.   TRENDS IN IMMUNOLOGY