De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.

doi:10.1016/j.ajhg.2018.07.020

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Article

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.

American journal of human genetics - 6 Sept 2018

Toki Tsutomu, Yoshida Kenichi, Wang RuNan, Nakamura Sou, Maekawa Takanobu, Goi Kumiko, Katoh Megumi C, Mizuno Seiya, Sugiyama Fumihiro, Kanezaki Rika, Uechi Tamayo, Nakajima Yukari, Sato Yusuke, Okuno Yusuke, Sato-Otsubo Aiko, Shiozawa Yusuke, Kataoka Keisuke, Shiraishi Yuichi, Sanada Masashi, Chiba Kenichi, Tanaka Hiroko, Terui Kiminori, Sato Tomohiko, Kamio Takuya, Sakaguchi Hirotoshi, Ohga Shouichi, Kuramitsu Madoka, Hamaguchi Isao, Ohara Akira, Kanno Hitoshi, Miyano Satoru, Kojima Seiji, Ishiguro Akira, Sugita Kanji, Kenmochi Naoya, Takahashi Satoru, Eto Koji, Ogawa Seishi, Ito Etsuro

Abstract excerpt

Inherited bone-marrow-failure syndromes (IBMFSs) include heterogeneous genetic disorders characterized by bone-marrow failure, congenital anomalies, and an increased risk of malignancy. Many lines of evidence have suggested that p53 activation might be central to the pathogenesis of IBMFSs, including Diamond-Blackfan anemia (DBA) and dyskeratosis congenita (DC). However, the exact role of p53 activation in each...

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Identifiers

PMID: 30146126
DOI: 10.1016/j.ajhg.2018.07.020
PMCID: PMC6128301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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