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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. Friedrich K, et al. Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5. Hum Genet. 2010. PMID: 20443122 Free PMC article.
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. 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.
Functional deficit associated with a missense Werner syndrome mutation.
Tadokoro T, Rybanska-Spaeder I, Kulikowicz T, Dawut L, Oshima J, Croteau DL, Bohr VA. Tadokoro T, et al. DNA Repair (Amst). 2013 Jun 1;12(6):414-21. doi: 10.1016/j.dnarep.2013.03.004. Epub 2013 Apr 11. DNA Repair (Amst). 2013. PMID: 23583337 Free PMC article.