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Year Number of Results
2010 1
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2014 7
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2016 12
2017 9
2018 1
2024 0

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Page 1
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Niedernhofer LJ, Oshima J. Mori T, et al. Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17. Hum Mutat. 2018. PMID: 29105242 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. 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.
Accelerated epigenetic aging in Werner syndrome.
Maierhofer A, Flunkert J, Oshima J, Martin GM, Haaf T, Horvath S. Maierhofer A, et al. Aging (Albany NY). 2017 Apr;9(4):1143-1152. doi: 10.18632/aging.101217. Aging (Albany NY). 2017. PMID: 28377537 Free PMC article.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
Werner syndrome through the lens of tissue and tumour genomics.
Tokita M, Kennedy SR, Risques RA, Chun SG, Pritchard C, Oshima J, Liu Y, Bryant-Greenwood PK, Welcsh P, Monnat RJ. Tokita M, et al. Sci Rep. 2016 Aug 25;6:32038. doi: 10.1038/srep32038. Sci Rep. 2016. PMID: 27559010 Free PMC article.
Ageing: Dietary protection for genes.
Oshima J, Martin GM. Oshima J, et al. Nature. 2016 Sep 15;537(7620):316-317. doi: 10.1038/nature19427. Epub 2016 Aug 24. Nature. 2016. PMID: 27556941 Free PMC article.
34 results