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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: martin gm. 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.
Lessons from human progeroid syndromes.
Martin GM, Oshima J. Martin GM, et al. Nature. 2000 Nov 9;408(6809):263-6. doi: 10.1038/35041705. Nature. 2000. PMID: 11089984 Review.
Ageing: Dietary protection for genes.
Oshima J, Martin GM. Oshima J, et al. Among authors: martin gm. Nature. 2016 Sep 15;537(7620):316-317. doi: 10.1038/nature19427. Epub 2016 Aug 24. Nature. 2016. PMID: 27556941 Free PMC article.
Dysfunction of the MDM2/p53 axis is linked to premature aging.
Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C. Lessel D, et al. Among authors: martin gm. J Clin Invest. 2017 Oct 2;127(10):3598-3608. doi: 10.1172/JCI92171. Epub 2017 Aug 28. J Clin Invest. 2017. PMID: 28846075 Free PMC article.
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. Sargolzaeiaval F, et al. Among authors: martin gm. Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393977 Free PMC article.
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. Among authors: martin gm. 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.
Clinical utility gene card for: Werner syndrome.
Hisama FM, Kubisch C, Martin GM, Oshima J. Hisama FM, et al. Among authors: martin gm. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.265. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258520 Free PMC article. No abstract available.
502 results