The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Open accessAbstract
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
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“Of all the FANCJ germline mutations, the most common mutant allele is FANCJ R798x.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [27]
In the citing paper
“Similarly, inheriting bi-allelic mutations in BACH1/FANCJ/ BRIP1 or PALB2/FANCN genes results in the FA subtypes FA-J or FA-N, respectively (Figure 1) [26–30].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [27]
Citations
Cites
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Cloning of cDNAs for Fanconi's anaemia by functional complementation
Strathdee, C. A., Gavish, H., Shannon, W. R., & Buchwald, M. (1992) · Nature · doi:10.1038/356763a0 · Cited by 621
The emerging genetic and molecular basis of Fanconi anaemia
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Self-citationMeetei, A. R., Medhurst, A. L., Ling, C., Xue, Y., Singh, T. R., Bier, P., Steltenpool, J., Stone, S., Dokal, I. S., Mathew, C. G., et al. (2005) · Nature Genetics · doi:10.1038/ng1626 · Cited by 464
Self-citationBeyond the holy grail of motor symptoms: deep brain stimulation for Parkinson's disease
Samuel, M. (2005) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2004.061911 · Cited by 358
Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., & Livingston, D. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308717101 · Cited by 240
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
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Self-citationBridge, W. L., Vandenberg, C. J., Franklin, R., & Hiom, K. J. (2005) · Nature Genetics · doi:10.1038/ng1627 · Cited by 209
Self-citationRisinger, M. A., & Groden, J. L. (2004) · Cancer Cell · doi:10.1016/j.ccr.2004.12.001 · Cited by 65
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- Risinger, M.A. & Groden, J. Cancer Cell 6, 539–545 (2004).
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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
Moynahan, M. E., & Jasin, M. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2851 · Cited by 959
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869
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Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Wang, W. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2159 · Cited by 663
Metadata
- Authors
- Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., & Joenje, H.
- Affiliations
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Leiden University Medical Center (NL)
- Guy's Hospital (GB)
- MRC Laboratory of Molecular Biology (GB)
- Corresponding author
- Joenje, Hans
- ORCID
- Venue
- Nature Genetics
- Published
- 2005-08-21
- Volume
- 37
- Issue
- 9
- Pages
- 934-935
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2118726620
- Cited by
- 432
- References
- 11
- Citations by year
- 2026: 9 · 2025: 5 · 2024: 8 · 2023: 4 · 2022: 11 · 2021: 13 · 2020: 12 · 2019: 13 · 2018: 12 · 2017: 13 · 2016: 25 · 2015: 19 · 2014: 20 · 2013: 22 · 2012: 23
- FWCI
- 15.81
- Type
- journal article
- Language
- en
- Open access
- green
- research.vumc.nl
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Francis Crick Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- BRIP1, FANCJ, Fanconi anemia pathway, DNA helicase, DEAH-box helicase, pathogenic variants, genome maintenance, DNA repair, hereditary cancer predisposition
- MeSH terms
- Chromosomes, Human, Pair 17, DNA-Binding Proteins, Fanconi Anemia, Genetic Complementation Test, Humans, Molecular Sequence Data, Mutation, Sequence Deletion, Microsatellite Repeats, RNA Helicases, Fanconi Anemia Complementation Group Proteins
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