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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
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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]
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Self-citation
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
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.
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