The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
R Loops and Links to Human Disease
Open accessAbstract
Aberrant R-loop structures are increasingly being realized as an important contributor to human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids, form naturally and can indeed be beneficial for transcription regulation at certain loci. However, their unwanted persistence elsewhere or in particular situations can lead to DNA double-strand breaks, chromosome rearrangements, and hypermutation, which are all sources of genomic instability. Mutations in genes involved in R-loop resolution or mutations leading to R-loop formation at specific genes affect the normal physiology of the cell. We discuss here the examples of diseases for which a link with R loops has been described, as well as how disease-causing mutations might participate in the development and/or progression of diseases that include repeat-associated conditions, other neurological disorders, and cancers.
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
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
Kiernan, M. C., Vucic, S., Cheah, B. C., Turner, M. R., Eisen, A., Hardiman, O., Burrell, J. R., & Zoing, M. C. (2011) · The Lancet · doi:10.1016/s0140-6736(10)61156-7 · Cited by 2,603
Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions
Gorgoulis, V. G., Vassiliou, L.-V. F., Karakaidos, P., Zacharatos, P., Kotsinas, A., Liloglou, T., Venere, M., DiTullio, R. A., Kastrinakis, N. G., Levy, B., et al. (2005) · Nature · doi:10.1038/nature03485 · Cited by 2,009
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Haeusler, A. R., Donnelly, C. J., Periz, G., Simko, E. A. J., Shaw, P. G., Kim, M.-S., Maragakis, N. J., Troncoso, J. C., Pandey, A., Sattler, R., et al. (2014) · Nature · doi:10.1038/nature13124 · Cited by 978
Schlacher, K., Wu, H., & Jasin, M. (2012) · Cancer Cell · doi:10.1016/j.ccr.2012.05.015 · Cited by 936
Repeat instability: mechanisms of dynamic mutations
Pearson, C. E., Edamura, K. N., & Cleary, J. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1689 · Cited by 924 · cited 3×
“These include Huntington's disease [CAG repeats in huntingtin (HTT)], myotonic dystrophy type 1 [CTG repeats in dystrophia myotonica protein kinase (DMPK)], spinocerebellar ataxia type 1 [CAG repeats in ataxin 1 (ATXN1)], fragile X mental retardation or fragile X syndrome (FXS) [CGG repeats in fragile X mental retarda…”
BackgroundLee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2091 · Cited by 730
Repeat instability as the basis for human diseases and as a potential target for therapy
López Castel, A., Cleary, J. D., & Pearson, C. E. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2854 · Cited by 429
Cited by
R-Loops as Cellular Regulators and Genomic Threats
Crossley, M. P., Bocek, M., & Cimprich, K. A. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.01.024 · Cited by 746
R Loops: From Physiological to Pathological Roles
García-Muse, T., & Aguilera, A. (2019) · Cell · doi:10.1016/j.cell.2019.08.055 · Cited by 697
Sanz, L. A., & Chédin, F. (2019) · Nature Protocols · doi:10.1038/s41596-019-0159-1 · Cited by 285
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging
Tiwari, V., & Wilson, D. M. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.06.005 · Cited by 244
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes
Giordano, A. M. S., Luciani, M., Gatto, F., Abou Alezz, M., Beghè, C., Della Volpe, L., Migliara, A., Valsoni, S., Genua, M., Dzieciatkowska, M., et al. (2022) · Journal of Experimental Medicine · doi:10.1084/jem.20211121 · Cited by 76
Metadata
- Authors
- Richard, P., & Manley, J. L.
- Venue
- Journal of Molecular Biology
- Publisher
- Elsevier BV
- Published
- 2017-10
- Volume
- 429
- Issue
- 21
- Pages
- 3168-3180
- ISSN
- 0022-2836 (ISSN-L)
- OpenAlex
- W2513764101
- Cited by
- 226
- References
- 16
- FWCI
- 7.07
- 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: R Loops and Links to Human Disease. https://app.cochat.ai/papers/10.1016/j.jmb.2016.08.031
- The paper
- Richard, P., & Manley, J. L. (2017). R Loops and Links to Human Disease. Journal of Molecular Biology. https://doi.org/10.1016/j.jmb.2016.08.031
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.
