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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Lessel D, et al. Among authors: oshima j. Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28. Nat Genet. 2014. PMID: 25261934 Free PMC article.
Homozygous and compound heterozygous mutations at the Werner syndrome locus.
Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J, Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J, Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM. Oshima J, et al. Hum Mol Genet. 1996 Dec;5(12):1909-13. doi: 10.1093/hmg/5.12.1909. Hum Mol Genet. 1996. PMID: 8968742
The Werner syndrome protein is a DNA helicase.
Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA. Gray MD, et al. Among authors: oshima j. Nat Genet. 1997 Sep;17(1):100-3. doi: 10.1038/ng0997-100. Nat Genet. 1997. PMID: 9288107
206 results