Evidence map›Paper›PMID 29500241›Full record

ArticleJournal of immunology (Baltimore, Md. : 1950)2018

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

Amy J Osborne, Matteo Breno, Nicolo Ghiringhelli Borsa, Fengxiao Bu, Véronique Frémeaux-Bacchi, Daniel P Gale, Lambertus P van den Heuvel, David Kavanagh, Marina Noris, Sheila Pinto and 10 more

Open access · bronzeAbstract readValidation Study
In one paragraph

Article in Journal of immunology (Baltimore, Md. : 1950), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 1 pooled it
8.4field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

104 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.

  1. Pooled it
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  7. Review
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  10. A Narrative Review of C3 Glomerulopathy: From Pathogenesis to Targeted Therapy.Canadian journal of kidney health and disease · 2026
    Review
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44 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 10 institutions in 8 countries.

Amy J OsborneDepartment of Structural and Molecular Biology, University College London, London WC1E 6BT, United Kingdom.ORCID 0000-0001-6869-1176
Matteo BrenoCentro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò," IRCCS-Istituto di Ricerche Farmacologiche "Mario Negri," 24020 Ranica Bergamo, Italy.
Nicolo Ghiringhelli BorsaMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242.ORCID 0000-0002-8397-637X
Fengxiao BuMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Véronique Frémeaux-BacchiAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service d'Immunologie Biologique, 75015 Paris, France.ORCID 0000-0002-4865-8528
Daniel P GaleCentre for Nephrology, Royal Free Hospital, University College London, London NW3 2QG, United Kingdom.ORCID 0000-0002-9170-1579
Lambertus P van den HeuvelDepartment of Pediatric Nephrology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
David KavanaghThe National Renal Complement Therapeutics Centre, Newcastle upon Tyne NE1 4LP, United Kingdom.ORCID 0000-0003-4718-0072
Marina NorisCentro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò," IRCCS-Istituto di Ricerche Farmacologiche "Mario Negri," 24020 Ranica Bergamo, Italy.ORCID 0000-0001-7651-5033
Sheila PintoDepartment of Cellular and Molecular Medicine, Center for Biological Research and Center for Biomedical Network Research on Rare Diseases, 28040 Madrid, Spain.
Pavithra M RallapalliDepartment of Structural and Molecular Biology, University College London, London WC1E 6BT, United Kingdom.ORCID 0000-0002-8261-6209
Giuseppe RemuzziCentro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò," IRCCS-Istituto di Ricerche Farmacologiche "Mario Negri," 24020 Ranica Bergamo, Italy.ORCID 0000-0002-6194-3446
Santiago Rodríguez de CordobaDepartment of Cellular and Molecular Medicine, Center for Biological Research and Center for Biomedical Network Research on Rare Diseases, 28040 Madrid, Spain.ORCID 0000-0001-6401-1874
Angela RuizDepartment of Cellular and Molecular Medicine, Center for Biological Research and Center for Biomedical Network Research on Rare Diseases, 28040 Madrid, Spain.
Richard J H SmithMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Paula Vieira-MartinsAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service d'Immunologie Biologique, 75015 Paris, France.ORCID 0000-0003-3063-9414
Elena VolokhinaDepartment of Pediatric Nephrology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Valerie WilsonNorthern Molecular Genetics Service, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Timothy H J GoodshipInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Stephen J PerkinsDepartment of Structural and Molecular Biology, University College London, London WC1E 6BT, United Kingdom; s.perkins@ucl.ac.uk.ORCID 0000-0001-9218-9805
Centre for Biomedical Network Research on Rare Diseases · ESInstitute of Structural and Molecular Biology · GBUniversity of Iowa · USAssistance Publique – Hôpitaux de Paris · FRMario Negri Institute for Pharmacological Research · ITNewcastle University · GBRadboud University Nijmegen · NLNational Health Service · GBThe Royal Free Hospital · GBUniversity of Milan · IT

Funding

C3 Glomerulopathy -- A Collaborative StudyR01DK110023 · NIDDK · UNIVERSITY OF IOWA · PI Patrick Breheny, Carla M Nester · 2017 to 2026
$5.6M
Medical Research Council G1002528Medical Research Council MR/K011715/1NIDDK NIH HHS R01 DK110023
6 · The paper itself

Abstract

Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with dysregulation and overactivation of the complement alternative pathway. Typically, gene analysis for aHUS and C3G is undertaken in small patient numbers, yet it is unclear which genes most frequently predispose to aHUS or C3G. Accordingly, we performed a six-center analysis of 610 rare genetic variants in 13 mostly complement genes (

Indexed as

Atypical Hemolytic Uremic SyndromeComplement C3Complement Factor HComplement Pathway, AlternativeFemaleGene FrequencyGenetic Predisposition to DiseaseGlomerulonephritis, MembranoproliferativeHumansMaleMutation, MissenseComplement C3Complement Factor H

Identifiers

PMID29500241
PMCPMC6324840
OpenAlexW2790190164

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.