The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome
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In the citing paper
“Genetic analysis of these patients revealed identical protein truncation with a loss of 32 residues from the C-terminal end, and surprisingly, more p53 exhibited transcriptional and functional p53 activity than controls did.”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [189]
In the citing paper
“This resulted from the loss of the domain required for the binding of negative transcriptional regulators (MDM2).189”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [189]
In the citing paper
“a study reported two unrelated individuals who exhibited bone marrow failure, anemia, progressive thrombocytopenia, and hypogammaglobulinemia at 2 months (individual 1) and 15 days (individual 2) after birth.189”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [189]
In the citing paper
“Germline GOF-heterozygous variants have also been reported in the TP53 gene.”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [189]
In the citing paper
“Although p53 mutations involved in human cancer are associated with a loss of the tumor suppressive effect of TP53, there have also been observations of germline variants with increased p53 activity in patients with clinical phenotypes related to DBA, including anemia and facial dysmorphism [162, 163].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [163]
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Citations
Cites
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63597 · Cited by 342
Feng, L., Lin, T., Uranishi, H., Gu, W., & Xu, Y. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.13.5389-5395.2005 · Cited by 236
Research works printed but not linked: 21
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- Dutt, 2011, Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells, Blood, 117, 2567, 10.1182/blood-2010-07-295238 · DOI · Paper page
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Cited by
The 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
p53: from understanding its structure to advances in therapeutic targeting
Wang, W., Liu, X., Liu, H., Abolhassani, H., Yan, H., Zhang, H., & Wang, X. (2026) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-025-02549-5 · Cited by 30
Metadata
- Authors
- Toki, T., Yoshida, K., Wang, R., Nakamura, S., Maekawa, T., Goi, K., Katoh, M. C., Mizuno, S., Sugiyama, F., Kanezaki, R., Uechi, T., Nakajima, Y., Sato, Y., Okuno, Y., Sato-Otsubo, A., Shiozawa, Y., Kataoka, K., Shiraishi, Y., Sanada, M., Chiba, K., Tanaka, H., Terui, K., Sato, T., Kamio, T., Sakaguchi, H., Ohga, S., Kuramitsu, M., Hamaguchi, I., Ohara, A., Kanno, H., Miyano, S., Kojima, S., Ishiguro, A., Sugita, K., Kenmochi, N., Takahashi, S., Eto, K., Ogawa, S., & Ito, E.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2018-09
- Volume
- 103
- Issue
- 3
- Pages
- 440-447
- ISSN
- 0002-9297
- Cited by
- 55
- References
- 2
- Language
- en
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 186 d)
- Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science (JP 17K10093)
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- CoChat. (2026). Citation check: De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. https://app.cochat.ai/papers/10.1016/j.ajhg.2018.07.020
- The paper
- Toki, T., Yoshida, K., Wang, R., Nakamura, S., Maekawa, T., Goi, K., Katoh, M. C., Mizuno, S., Sugiyama, F., Kanezaki, R., Uechi, T., Nakajima, Y., Sato, Y., Okuno, Y., Sato-Otsubo, A., Shiozawa, Y., Kataoka, K., Shiraishi, Y., Sanada, M., . . . Ito, E. (2018). De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2018.07.020
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.
