The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Human RAG mutations: biochemistry and clinical implications
Open accessAbstract
The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V(D)J recombination process, which ultimately enables the generation of T cells and B cells with a diversified repertoire of antigen-specific receptors. Mutations of the RAG genes in humans are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to autoimmunity. Recently, novel insights into the phenotypic diversity of this disease have been provided by resolving the crystal structure of the RAG complex, by developing novel assays to test recombination activity of the mutant RAG proteins and by characterizing the molecular and cellular basis of immune dysregulation in patients with RAG deficiency.
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Regulation of DNA repair throughout the cell cycle
Branzei, D., & Foiani, M. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2351 · Cited by 1,228
Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1
Meager, A., Visvalingam, K., Peterson, P., Möll, K., Murumägi, A., Krohn, K., Eskelin, P., Perheentupa, J., Husebye, E., Kadota, Y., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030289 · Cited by 453
A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency
Hacein-Bey-Abina, S., Pai, S.-Y., Gaspar, H. B., Armant, M., Berry, C. C., Blanche, S., Bleesing, J., Blondeau, J., de Boer, H., Buckland, K. F., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1404588 · Cited by 412
Self-citationLandree, M. A., Wibbenmeyer, J. A., & Roth, D. B. (1999) · Genes & Development · doi:10.1101/gad.13.23.3059 · Cited by 209
Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase
Kim, D. R., Dai, Y., Mundy, C. L., Yang, W., & Oettinger, M. A. (1999) · Genes & Development · doi:10.1101/gad.13.23.3070 · Cited by 199
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Maciocia, P. M., Wawrzyniecka, P. A., Philip, B., Ricciardelli, I., Akarca, A. U., Onuoha, S. C., Legut, M., Cole, D. K., Sewell, A. K., Gritti, G., et al. (2017) · Nature Medicine · doi:10.1038/nm.4444 · Cited by 286
Lagresle-Peyrou, C., Olichon, A., Sadek, H., Roche, P., Tardy, C., Silva, C. D., Garrigue, A., Fischer, A., Moshous, D., Collette, Y., et al. (2020) · Haematologica · doi:10.3324/haematol.2019.230250 · Cited by 35
Gut Microbiota–Host Interactions in Inborn Errors of Immunity
Castagnoli, R., Pala, F., Bosticardo, M., Licari, A., Delmonte, O. M., Villa, A., Marseglia, G. L., & Notarangelo, L. D. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22031416 · Cited by 34
Self-citationCastiello, M. C., Brandas, C., Ferrari, S., Porcellini, S., Sacchetti, N., Canarutto, D., Draghici, E., Merelli, I., Barcella, M., Pelosi, G., et al. (2024) · Science Translational Medicine · doi:10.1126/scitranslmed.adh8162 · Cited by 25
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Metadata
- Authors
- Notarangelo, L. D., Kim, M.-S., Walter, J. E., & Lee, Y. N.
- Venue
- Nature Reviews Immunology
- Published
- 2016-03-21
- Volume
- 16
- Issue
- 4
- Pages
- 234-246
- ISSN
- 1474-1733 (ISSN-L)
- 1474-1741
- OpenAlex
- W2307181553
- Cited by
- 230
- References
- 5
- FWCI
- 2.11
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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