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Alexandra Bruel et al.
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Wei Song et al.
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Sophie Chauvet et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
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Fengxiao Bu et al.
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Paraskevas Iatropoulos et al.
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Monkol Lek et al.
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Marie-Agnes Dragon Durey et al.
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M. Heurich et al.
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The Ensembl Variant Effect Predictor
William McLaren et al.
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Marina Noris et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2015)
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Elizabeth C. Schramm et al.
BLOOD (2015)
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
Sue Richards et al.
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Adam I. Csincsi et al.
JOURNAL OF IMMUNOLOGY (2015)
Atypical aHUS: State of the art
Carla M. Nester et al.
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A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Rare variant association studies: considerations, challenges and opportunities
Paul L. Auer et al.
GENOME MEDICINE (2015)
A Novel Atypical Hemolytic Uremic Syndrome-Associated Hybrid CFHR1/CFH Gene Encoding a Fusion Protein That Antagonizes Factor H-Dependent Complement Regulation
Elisabetta Valoti et al.
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Structural basis for sialic acid-mediated self-recognition by complement factor H
Baerbel S. Blaum et al.
NATURE CHEMICAL BIOLOGY (2015)
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3
Elizabeth Rodriguez et al.
BIOSCIENCE REPORTS (2014)
Complement Mutations in Diacylglycerol Kinase-ε-Associated Atypical Hemolytic Uremic Syndrome
Daniel Sanchez Chinchilla et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
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Qian Chen et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Factors determining penetrance in familial atypical haemolytic uraemic syndrome
Francis H. Sansbury et al.
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Fengxiao Bu et al.
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Positive Selection during the Evolution of the Blood Coagulation Factors in the Context of Their Disease-Causing Mutations
Pavithra M. Rallapalli et al.
MOLECULAR BIOLOGY AND EVOLUTION (2014)
Searching for missing heritability: Designing rare variant association studies
Or Zuk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
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Veronique Fremeaux-Bacchi et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
Agustin Tortajada et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
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Elena Bresin et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
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P. M. Rallapalli et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2013)
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Mathieu Lemaire et al.
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Stephen J. Eyler et al.
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Elena Goicoechea de Jorge et al.
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Lubna Kouser et al.
FRONTIERS IN IMMUNOLOGY (2013)
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
Lubka T. Roumenina et al.
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Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies
Aude Servais et al.
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Rare and common variants: twenty arguments
Greg Gibson
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Thrombomodulin and its role in inflammation
Edward M. Conway
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Hongjie Wang et al.
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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
Yiannis Athanasiou et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome
Tara K. Maga et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2011)
Structural basis for complement factor I control and its disease-associated sequence polymorphisms
Pietro Roversi et al.
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Ruben Martinez-Barricarte et al.
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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
Daniel P. Gale et al.
LANCET (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
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Structure of the Extracellular Portion of CD46 Provides Insights into Its Interactions with Complement Proteins and Pathogens
B. David Persson et al.
PLOS PATHOGENS (2010)
Electrostatic Interactions Contribute to the Folded-back Conformation of Wild Type Human Factor H
Azubulke I. Okemefuna et al.
JOURNAL OF MOLECULAR BIOLOGY (2009)
A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome
Anne-lie Stahl et al.
MOLECULAR IMMUNOLOGY (2009)
Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
Jin Wu et al.
NATURE IMMUNOLOGY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Thrombomodulin Mutations in Atypical Hemolytic-Uremic Syndrome
Mieke Delvaeye et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
A new map of glycosaminoglycan and C3b binding sites on factor H
Christoph Q. Schmidt et al.
JOURNAL OF IMMUNOLOGY (2008)
Factor B structure provides insights into activation of the central protease of the complement system
Fin J. Milder et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2007)
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
Elena Goicoechea de Jorge et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
Julian P. Venables et al.
PLOS MEDICINE (2006)
An interactive web database of factor H-associated hemolytic uremic syndrome mutations: Insights into the structural consequences of disease-associated mutations
RE Saunders et al.
HUMAN MUTATION (2006)
Structures of complement component C3 provide insights into the function and evolution of immunity
BJC Janssen et al.
NATURE (2005)
An algorithm for progressive multiple alignment of sequences with insertions
A Löytynoja et al.
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Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
J Esparza-Gordillo et al.
HUMAN MOLECULAR GENETICS (2005)
The human complement factor H:: functional roles, genetic variations and disease associations
SR de Córdoba et al.
MOLECULAR IMMUNOLOGY (2004)