The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome
Open accessAbstract
Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement regulation. Disease-associated mutations have been described in the genes encoding the complement regulators complement factor H, membrane cofactor protein, factor B, and factor I. In this study, we show in two independent cohorts of aHUS patients that deletion of two closely related genes, complement factor H-related 1 (CFHR1) and complement factor H-related 3 (CFHR3), increases the risk of aHUS. Amplification analysis and sequencing of genomic DNA of three affected individuals revealed a chromosomal deletion of approximately 84 kb in the RCA gene cluster, resulting in loss of the genes coding for CFHR1 and CFHR3, but leaving the genomic structure of factor H intact. The CFHR1 and CFHR3 genes are flanked by long homologous repeats with long interspersed nuclear elements (retrotransposons) and we suggest that nonallelic homologous recombination between these repeats results in the loss of the two genes. Impaired protection of erythrocytes from complement activation is observed in the serum of aHUS patients deficient in CFHR1 and CFHR3, thus suggesting a regulatory role for CFHR1 and CFHR3 in complement activation. The identification of CFHR1/CFHR3 deficiency in aHUS patients may lead to the design of new diagnostic approaches, such as enhanced testing for these genes.
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
Hughes, A. E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T., & Chakravarthy, U. (2006) · Nature Genetics · doi:10.1038/ng1890 · Cited by 467
Self-citation
Cited by
Anderson, D. H., Radeke, M. J., Gallo, N. B., Chapin, E. A., Johnson, P. T., Curletti, C. R., Hancox, L. S., Hu, J., Ebright, J. N., Malek, G., et al. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2009.11.003 · Cited by 727
Genome-wide association study identifies susceptibility loci for IgA nephropathy
Gharavi, A. G., Kiryluk, K., Choi, M., Li, Y., Hou, P., Xie, J., Sanna-Cherchi, S., Men, C. J., Julian, B. A., Wyatt, R. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.787 · Cited by 624
Thrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome
Delvaeye, M., Noris, M., De Vriese, A., Esmon, C. T., Esmon, N. L., Ferrell, G., Del-Favero, J., Plaisance, S., Claes, B., Lambrechts, D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810739 · Cited by 554
the International Meningococcal Genetics Consortium (2010) · Nature Genetics · doi:10.1038/ng.640 · Cited by 288
Heinen, S., Hartmann, A., Lauer, N., Wiehl, U., Dahse, H.-M., Schirmer, S., Gropp, K., Enghardt, T., Wallich, R., Hälbich, S., et al. (2009) · Blood · doi:10.1182/blood-2009-02-205641 · Cited by 272
Self-citation
Metadata
- Authors
- Zipfel, P. F., Edey, M., Heinen, S., Józsi, M., Richter, H., Misselwitz, J., Hoppe, B., Routledge, D., Strain, L., Hughes, A. E., Goodship, J. A., Licht, C., Goodship, T. H. J., & Skerka, C.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2007-03-16
- Volume
- 3
- Issue
- 3
- Pages
- e41
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2067053006
- Cited by
- 325
- References
- 1
- FWCI
- 9.10
- Type
- journal article
- Language
- en
- Open access
- gold
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: Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome. https://app.cochat.ai/papers/10.1371/journal.pgen.0030041
- The paper
- Zipfel, P. F., Edey, M., Heinen, S., Józsi, M., Richter, H., Misselwitz, J., Hoppe, B., Routledge, D., Strain, L., Hughes, A. E., Goodship, J. A., Licht, C., Goodship, T. H. J., & Skerka, C. (2007). Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome. PLoS Genetics. https://doi.org/10.1371/journal.pgen.0030041
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.
