The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome
Open accessAbstract
Haemolytic uraemic syndrome (HUS), the most frequent cause of acute renal failure in childhood, is characterised by the association of acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia.1,2 The majority of HUS cases occur after an episode of infectious diarrhoea, and are associated with Escherichia coli O157:H7 infection. However, atypical cases of HUS occur in the absence of infectious diarrhoea, although less commonly. Some are inherited in either an autosomal dominant or a recessive pattern and these patients often experience relapse and progress to hypertension and chronic renal disease. Sporadic forms can occur with many of the same signs and symptoms. The pathophysiology of this syndrome is poorly understood. However, after the first association with a low antigenic level of C3 was identified, two complement alternative pathway proteins, factor H (FH) and recently membrane cofactor protein (CD46; MCP) have been identified as fostering the development of atypical HUS.3–7 The human complement cascade can be activated through three different pathways: the classical pathway, the lectin pathway, and the alternative pathway. Factor H and MCP are regulatory proteins of the alternative pathway.8 Since the description of a genetic association of the disease with the cluster of complement related genes on chromosome 1, several mutations have been reported on the exons coding for the C-terminal domains of FH, which are important for C3b binding.5,9–12 Recently, two groups presented evidence that CD46 mutations may also predispose to HUS.7,13 Considering the major role of FH in complement alternative pathway regulation, we speculated that other complement regulators might be involved in the disease process. Human complement factor I (factor I) is a serine proteinase that cleaves the α chain of C3b and plays a key role in inhibition of the alternative pathway amplification loop which generates …
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Walport, M. J. (2001) · New England Journal of Medicine · doi:10.1056/nejm200104053441406 · Cited by 2,927
Wiklund, R. A., & Rosenbaum, S. H. (1997) · New England Journal of Medicine · doi:10.1056/nejm199710163371606 · Cited by 2,149
Moake, J. L. (2002) · New England Journal of Medicine · doi:10.1056/nejmra020528 · Cited by 1,221
Pangburn, M. K., Schreiber, R. D., & Müller-Eberhard, H. J. (1977) · The Journal of experimental medicine · doi:10.1084/jem.146.1.257 · Cited by 684
Genetic studies into inherited and sporadic hemolytic uremic syndrome
Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., & Goodship, J. A. (1998) · Kidney International · doi:10.1046/j.1523-1755.1998.00824.x · Cited by 497
The Regulators of Complement Activation (RCA) Gene Cluster
Hourcade, D., Holers, V. M., & Atkinson, J. P. (1989) · Advances in Immunology · doi:10.1016/s0065-2776(08)60697-5 · Cited by 439
Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Müslümanogğlu, M. H., Kavukcu, S., Filler, G., Pirson, Y., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2135497100 · Cited by 405
Dragon-Durey, M.-A., Frémeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Herman Fridman, W., & Weiss, L. (2004) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000115702.28859.a7 · Cited by 355
Self-citationRichards, A., Buddles, M. R., Donne, R. L., Kaplan, B. S., Kirk, E., Venning, M. C., Tielemans, C. L., Goodship, J. A., & Goodship, T. H. J. (2001) · The American Journal of Human Genetics · doi:10.1086/318203 · Cited by 310
Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G., Gamba, S., Brioschi, S., Daina, E., Remuzzi, G., et al. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg363 · Cited by 306
Cited by
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy
Guillou, J., de Pellegars, A., Porcheret, F., Frémeaux-Bacchi, V., Allain-Launay, E., Debord, C., Denis, M., Péréon, Y., Barnérias, C., Desguerre, I., et al. (2022) · Blood Advances · doi:10.1182/bloodadvances.2021006419 · Cited by 166
Self-citationMontes, T., Goicoechea de Jorge, E., Ramos, R., Gomà, M., Pujol, O., Sánchez-Corral, P., & Rodríguez de Córdoba, S. (2008) · Molecular Immunology · doi:10.1016/j.molimm.2008.01.027 · Cited by 47
Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases
Recalde, S., Tortajada, A., Subias, M., Anter, J., Blasco, M., Maranta, R., Coco, R., Pinto, S., Noris, M., García-Layana, A., et al. (2016) · Journal of the American Society of Nephrology · doi:10.1681/asn.2015050580 · Cited by 32
Metadata
- Authors
- Fremeaux-Bacchi, V, Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., & Fridman, W. H.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2004-06
- Volume
- 41
- Issue
- 6
- Pages
- e84-e84
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2131509889
- Cited by
- 339
- References
- 28
- FWCI
- 8.45
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. https://app.cochat.ai/papers/10.1136/jmg.2004.019083
- The paper
- Fremeaux-Bacchi, V, Dragon-Durey, M.-A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E., & Fridman, W. H. (2004). Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2004.019083
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
