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Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F. Simeonova I, et al. Cell Rep. 2013 Jun 27;3(6):2046-58. doi: 10.1016/j.celrep.2013.05.028. Epub 2013 Jun 13. Cell Rep. 2013. PMID: 23770245 Free article.
Pulmonary alveolar proteinosis revealing a telomerase disease.
Marchand-Adam S, Diot B, Magro P, De Muret A, Guignabert C, Kannengiesser C, Londono-Vallejo A, Draskovic I, Toutain A, Diot P. Marchand-Adam S, et al. Am J Respir Crit Care Med. 2013 Aug 1;188(3):402-4. doi: 10.1164/rccm.201301-0010LE. Am J Respir Crit Care Med. 2013. PMID: 23905534 No abstract available.
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y. Deng Z, et al. Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19. Proc Natl Acad Sci U S A. 2013. PMID: 23959892 Free PMC article.
81 results