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Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.
Merkle FT, Ghosh S, Kamitaki N, Mitchell J, Avior Y, Mello C, Kashin S, Mekhoubad S, Ilic D, Charlton M, Saphier G, Handsaker RE, Genovese G, Bar S, Benvenisty N, McCarroll SA, Eggan K. Merkle FT, et al. Nature. 2017 May 11;545(7653):229-233. doi: 10.1038/nature22312. Epub 2017 Apr 26. Nature. 2017. PMID: 28445466 Free PMC article.
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K. Burberry A, et al. Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038. Sci Transl Med. 2016. PMID: 27412785 Free PMC article.