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The role of p53 in developmental syndromes
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“More recent studies have shown that an increase in the functional activity of p53 could account for the clinical phenotype of many genetic diseases [144].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [144]
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p53 mutant mice that display early ageing-associated phenotypes
Tyner, S. D., Venkatachalam, S., Choi, J., Jones, S., Ghebranious, N., Igelmann, H., Lu, X., Soron, G., Cooper, B., Brayton, C., et al. (2002) · Nature · doi:10.1038/415045a · Cited by 1,459
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de Oca Luna, R. M., Wagner, D. S., & Lozano, G. (1995) · Nature · doi:10.1038/378203a0 · Cited by 1,420 · cited 1×
“5, respectively (Figure 1B and C) (Jones et al., 1995; Montes de Oca Luna et al., 1995; Parant et al., 2001; Chavez-Reyes et al., 2003; Moyer et al., 2017).”
Rescue of embryonic lethality in Mdm2-deficient mice by absence of p53
Jones, S. N., Roe, A. E., Donehower, L. A., & Bradley, A. (1995) · Nature · doi:10.1038/378206a0 · Cited by 1,280
P53 in survival, death and metabolic health: a lifeguard with a licence to kill.
Kruiswijk, F., Labuschagne, C. F., & Vousden, K. H. (2015) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm4007 · Cited by 1,080
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“…from dyskeratosis congenita patients have elevated p53 levels, and loss of Trp53 can rescue the hyperpigmentation phenotype, the skeletal defects, and the testes defects in mouse models of this syndrome (Table 1) (Chin et al., 1999; Else et al., 2009; Vlangos et al., 2009; Pereboeva et al., 2016).”
BackgroundParant, J., Chavez-Reyes, A., Little, N. A., Yan, W., Reinke, V., Jochemsen, A. G., & Lozano, G. (2001) · Nature Genetics · doi:10.1038/ng714 · Cited by 517
Tumor suppression and normal aging in mice with constitutively high p53 activity
Mendrysa, S. M., O'Leary, K. A., McElwee, M. K., Michalowski, J., Eisenman, R. N., Powell, D. A., & Perry, M. E. (2006) · Genes & Development · doi:10.1101/gad.1378506 · Cited by 210
A p53 Super-tumor Suppressor Reveals a Tumor Suppressive p53-Ptpn14-Yap Axis in Pancreatic Cancer
Mello, S. S., Valente, L. J., Raj, N., Seoane, J. A., Flowers, B. M., McClendon, J., Bieging-Rolett, K. T., Lee, J., Ivanochko, D., Kozak, M. M., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.09.007 · Cited by 179
Self-citationp53 pathway is involved in cell competition during mouse embryogenesis
Zhang, G., Xie, Y., Zhou, Y., Xiang, C., Chen, L., Zhang, C., Hou, X., Chen, J., Zong, H., & Liu, G. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1617414114 · Cited by 69
Vlangos, C. N., O'Connor, B. C., Morley, M. J., Krause, A. S., Osawa, G. A., & Keegan, C. E. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.07.038 · Cited by 29
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Cited by
Multifaceted role for p53 in pancreatic cancer suppression
Mello, S. S., Flowers, B. M., Mazur, P. K., Lee, J. J., Müller, F., Denny, S. K., Ferreira, S., Hanson, K., Kim, S. K., Greenleaf, W. J., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2211937120 · Cited by 55
Self-citationThe TP53 tumor suppressor gene: From molecular biology to clinical investigations
Baliakas, P., & Soussi, T. (2025) · Journal of Internal Medicine · doi:10.1111/joim.20106 · Cited by 50
Metadata
- Authors
- Bowen, M. E., & Attardi, L. D.
- Affiliations
- Division of Radiation and Cancer Biology in the Department of Radiation Oncology, Stanford University School of Medicine, Stanford, CA, USA
- ORCID
- Bowen, Margot E
- Venue
- Journal of Molecular Cell Biology
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-01-08
- Volume
- 11
- Issue
- 3
- Pages
- 200-211
- ISSN
- 1759-4685
- Cited by
- 86
- References
- 10
- Language
- en
- Funders
- March of Dimes Foundation (6-FY15-189, CA197591)
- Jane Coffin Childs Fund Postdoctoral Fellowship
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- CoChat. (2026). Citation check: The role of p53 in developmental syndromes. https://app.cochat.ai/papers/10.1093/jmcb/mjy087
- The paper
- Bowen, M. E., & Attardi, L. D. (2019). The role of p53 in developmental syndromes. Journal of Molecular Cell Biology. https://doi.org/10.1093/jmcb/mjy087
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.