The DOI matches its Crossref record; 95 of the 95 references it cites were found in a registry or an index.
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
Open accessAbstract
Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. A common founder mutation designated blmAsh is present in about 1 in 100 persons of Eastern European Jewish ancestry, and there are additional recurrent founder mutations among other populations. Missense, nonsense, and frameshift mutations as well as multiexonic deletions have all been observed. Bloom's syndrome is a prototypical chromosomal instability syndrome, and the somatic mutations that occur as a result of that instability are responsible for the increased cancer risk. Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom's syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
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
G-quadruplexes and their regulatory roles in biology
Rhodes, D., & Lipps, H. J. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv862 · Cited by 1,487
The Bloom's syndrome gene product is homologous to RecQ helicases
Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., & German, J. (1995) · Cell · doi:10.1016/0092-8674(95)90105-1 · Cited by 1,403
Self-citationThe Bloom's syndrome helicase suppresses crossing over during homologous recombination
Wu, L., & Hickson, I. D. (2003) · Nature · doi:10.1038/nature02253 · Cited by 1,085
A Manyfold Increase in Sister Chromatid Exchanges in Bloom's Syndrome Lymphocytes
Chaganti, R. S. K., Schonberg, S., & German, J. (1974) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.71.11.4508 · Cited by 934
Replication stress induces sister-chromatid bridging at fragile site loci in mitosis
Chan, K. L., Palmai-Pallag, T., Ying, S., & Hickson, I. D. (2009) · Nature Cell Biology · doi:10.1038/ncb1882 · Cited by 612
The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases
Mohaghegh, P. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.13.2843 · Cited by 598
Lallemand-Breitenbach, V., & de The, H. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000661 · Cited by 563
Human RecQ Helicases in DNA Repair, Recombination, and Replication
Croteau, D. L., Popuri, V., Opresko, P. L., & Bohr, V. A. (2014) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060713-035428 · Cited by 538
The Bloom's Syndrome Helicase Unwinds G4 DNA
Sun, H., Karow, J. K., Hickson, I. D., & Maizels, N. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.42.27587 · Cited by 534
Maizels, N., & Gray, L. T. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003468 · Cited by 491
Cited by
Arber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H.-M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., et al. (2022) · Blood · doi:10.1182/blood.2022015850 · Cited by 2,945
Fanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature Reviews Cancer · doi:10.1038/nrc.2017.116 · Cited by 389
Osteosarcoma: Molecular Pathogenesis and iPSC Modeling
Lin, Y.-H., Jewell, B. E., Gingold, J., Lu, L., Zhao, R., Wang, L. L., & Lee, D.-F. (2017) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2017.06.004 · Cited by 150
Integrating the DNA damage and protein stress responses during cancer development and treatment
Gorgoulis, V. G., Pefani, D., Pateras, I. S., & Trougakos, I. P. (2018) · The Journal of Pathology · doi:10.1002/path.5097 · Cited by 108
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
Hennekam, R. C. M. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104028 · Cited by 34
Metadata
- Authors
- Cunniff, C., Bassetti, J. A., & Ellis, N. A.
- Venue
- Molecular Syndromology
- Publisher
- S. Karger AG
- Published
- 2016-11-05
- Volume
- 8
- Issue
- 1
- Pages
- 4-23
- ISSN
- 1661-8769 (ISSN-L)
- 1661-8777
- OpenAlex
- W2548136543
- Cited by
- 265
- References
- 95
- FWCI
- 7.67
- Type
- journal article
- Language
- en
- Open access
- green
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: Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. https://app.cochat.ai/papers/10.1159/000452082
- The paper
- Cunniff, C., Bassetti, J. A., & Ellis, N. A. (2017). Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Molecular Syndromology. https://doi.org/10.1159/000452082
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.
