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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
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“Instead, the discovery of widespread clonal expansions in ageing human tissues19,50–52 raises the possibility that some somatic mutations contribute to ageing by driving clonal expansions of functionally altered cells at a cost to the organism49,53,54.”
From Somatic mutation rates scale with lifespan across mammals (2022) · cites this paper as [53]
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“Examples include the possible links between clonal haematopoiesis and cardiovascular disease54; between mutations in liver disease and insulin resistance55; and between driver mutations in cavernomas and brain haemorrhages49,53,56.”
From Somatic mutation rates scale with lifespan across mammals (2022) · cites this paper as [53]
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Citations
Cites
Mutant PIK3CA promotes cell growth and invasion of human cancer cells.
Samuels, Y., Diaz, L. A., Schmidt-Kittler, O., Cummins, J. M., DeLong, L., Cheong, I., Rago, C., Huso, D. L., Lengauer, C., Kinzler, K. W., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.05.014 · Cited by 915
EndMT contributes to the onset and progression of cerebral cavernous malformations
Maddaluno, L., Rudini, N., Cuttano, R., Bravi, L., Giampietro, C., Corada, M., Ferrarini, L., Orsenigo, F., Papa, E., Boulday, G., et al. (2013) · Nature · doi:10.1038/nature12207 · Cited by 486
Endothelial LRP1 transports amyloid-β1–42 across the blood-brain barrier
Storck, S. E., Meister, S., Nahrath, J., Meißner, J. N., Schubert, N., Di Spiezio, A., Baches, S., Vandenbroucke, R. E., Bouter, Y., Prikulis, I., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci81108 · Cited by 477
Self-citationEndothelial TLR4 and the microbiome drive cerebral cavernous malformations
Tang, A. T., Choi, J. P., Kotzin, J. J., Yang, Y., Hong, C. C., Hobson, N., Girard, R., Zeineddine, H. A., Lightle, R., Moore, T., et al. (2017) · Nature · doi:10.1038/nature22075 · Cited by 306
Self-citationCerebral cavernous malformations: from CCM genes to endothelial cell homeostasis
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Cited by
Sorted by citations
Somatic mutation rates scale with lifespan across mammals
Cagan, A., Baez-Ortega, A., Brzozowska, N., Abascal, F., Coorens, T. H. H., Sanders, M. A., Lawson, A. R. J., Harvey, L. M. R., Bhosle, S., Jones, D., et al. (2022) · Nature · doi:10.1038/s41586-022-04618-z · Cited by 481
Angiopoietin–TIE2 feedforward circuit promotes PIK3CA-driven venous malformations
Kraft, M., Schoofs, H., Petkova, M., Andrade, J., Grosso, A. R., Benedito, R., De Roo, A.-K., Boon, L. M., Vikkula, M., Kapp, F. G., et al. (2025) · Nature Cardiovascular Research · doi:10.1038/s44161-025-00655-9 · Cited by 28
Self-citation
Metadata
- Authors
- Ren, A. A., Snellings, D. A., Su, Y. S., Hong, C. C., Castro, M., Tang, A. T., Detter, M. R., Hobson, N., Girard, R., Romanos, S., Lightle, R., Moore, T., Shenkar, R., Benavides, C., Beaman, M. M., Müller-Fielitz, H., Chen, M., Mericko, P., Yang, J., Sung, D. C., Lawton, M. T., Ruppert, J. M., Schwaninger, M., Körbelin, J., Potente, M., Awad, I. A., Marchuk, D. A., & Kahn, M. L.
- Venue
- Nature
- Published
- 2021-04-28
- Volume
- 594
- Issue
- 7862
- Pages
- 271-276
- ISSN
- 0028-0836
- 1476-4687
- PMC
- PMC8626098
- Cited by
- 201
- References
- 5
- Language
- en
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- CoChat. (2026). Citation check: PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. https://app.cochat.ai/papers/10.1038/s41586-021-03562-8
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- Ren, A. A., Snellings, D. A., Su, Y. S., Hong, C. C., Castro, M., Tang, A. T., Detter, M. R., Hobson, N., Girard, R., Romanos, S., Lightle, R., Moore, T., Shenkar, R., Benavides, C., Beaman, M. M., Müller-Fielitz, H., Chen, M., Mericko, P., Yang, J., . . . Kahn, M. L. (2021). PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. https://doi.org/10.1038/s41586-021-03562-8