Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. (Q52676485)

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scientific article published on 2 March 2018

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English	Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.	scientific article published on 2 March 2018

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scholarly article

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19 March 2020

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

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19 March 2020

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atypical hemolytic uremic syndrome

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Giuseppe Remuzzi

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19 March 2020

Santiago Rodriguez de Córdoba

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19 March 2020

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19 March 2020

Nicolo Ghiringhelli Borsa

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19 March 2020

Véronique Frémeaux-Bacchi

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Pavithra M Rallapalli

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19 March 2020

Richard J Smith

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Paula Vieira-Martins

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Stephen J Perkins

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19 March 2020

Timothy H J Goodship

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Timothy H J Goodship

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19 March 2020

author name string

Matteo Breno

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19 March 2020

Fengxiao Bu

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19 March 2020

Lambertus P van den Heuvel

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19 March 2020

Sheila Pinto

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19 March 2020

Angela Ruiz

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19 March 2020

Elena Volokhina

17

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19 March 2020

Valerie Wilson

18

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2 March 2018

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19 March 2020

Journal of Immunology

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2464-2478

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19 March 2020

7

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19 March 2020

describes a project that uses

1 reference

Europe PubMed Central

26 June 2022

https://europepmc.org/article/PMC/PMC6324840

based on heuristic

inferred from PubMed Central ID database lookup

The protein kinase C family

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Power and sample size calculations. A review and computer program

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

H deficiency in two brothers with atypical dense intramembranous deposit disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic studies into inherited and sporadic hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human complement factor H: functional roles, genetic variations and disease associations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An algorithm for progressive multiple alignment of sequences with insertions

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structures of complement component C3 provide insights into the function and evolution of immunity

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor B structure provides insights into activation of the central protease of the complement system

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new map of glycosaminoglycan and C3b binding sites on factor H

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrostatic interactions contribute to the folded-back conformation of wild type human factor H

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thrombomodulin mutations in atypical hemolytic-uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method and server for predicting damaging missense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thrombomodulin and its role in inflammation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare and common variants: twenty arguments

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dimerization of complement factor H-related proteins modulates complement activation in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properdin and factor h: opposing players on the alternative complement pathway "see-saw".

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Searching for missing heritability: designing rare variant association studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positive selection during the evolution of the blood coagulation factors in the context of their disease-causing mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Current concepts in C3 glomerulopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare variant association studies: considerations, challenges and opportunities

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical aHUS: State of the art.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glomerular Diseases Dependent on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A global reference for human genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ensembl Variant Effect Predictor

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anti-complement-factor H-associated glomerulopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thrombomodulin enhances complement regulation through strong affinity interactions with factor H and C3b-Factor H complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemolytic uraemic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of Immune-Mediated Glomerular Diseases: Focus on Complement.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29500241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.4049/JIMMUNOL.1701695

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29500241%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29500241%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29500241%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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