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372 results

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RTEL1 influences the abundance and localization of TERRA RNA.
Ghisays F, Garzia A, Wang H, Canasto-Chibuque C, Hohl M, Savage SA, Tuschl T, Petrini JHJ. Ghisays F, et al. Among authors: savage sa. Nat Commun. 2021 May 21;12(1):3016. doi: 10.1038/s41467-021-23299-2. Nat Commun. 2021. PMID: 34021146 Free PMC article.
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. Among authors: savage sa. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.
Brown DW, Zhou W, Wang Y, Jones K, Luo W, Dagnall C, Teshome K, Klein A, Zhang T, Lin SH, Lee OW, Khan S, Vo JB, Hutchinson A, Liu J, Wang J, Zhu B, Hicks B, Martin AS, Spellman SR, Wang T, Deeg HJ, Gupta V, Lee SJ, Freedman ND, Yeager M, Chanock SJ, Savage SA, Saber W, Gadalla SM, Machiela MJ. Brown DW, et al. Among authors: savage sa. Nat Commun. 2022 Sep 8;13(1):5284. doi: 10.1038/s41467-022-32986-7. Nat Commun. 2022. PMID: 36075929 Free PMC article.
Human telomeres and telomere biology disorders.
Savage SA. Savage SA. Prog Mol Biol Transl Sci. 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. Prog Mol Biol Transl Sci. 2014. PMID: 24993697 Review.
Telomeres in molecular epidemiology studies.
Bodelon C, Savage SA, Gadalla SM. Bodelon C, et al. Among authors: savage sa. Prog Mol Biol Transl Sci. 2014;125:113-31. doi: 10.1016/B978-0-12-397898-1.00005-0. Prog Mol Biol Transl Sci. 2014. PMID: 24993700 Free PMC article. Review.
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG. Balakumaran A, et al. Among authors: savage sa. Blood. 2015 Jan 29;125(5):793-802. doi: 10.1182/blood-2014-06-566810. Epub 2014 Dec 12. Blood. 2015. PMID: 25499762 Free PMC article. Clinical Trial.
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Machiela MJ, Zhou W, Karlins E, Sampson JN, Freedman ND, Yang Q, Hicks B, Dagnall C, Hautman C, Jacobs KB, Abnet CC, Aldrich MC, Amos C, Amundadottir LT, Arslan AA, Beane-Freeman LE, Berndt SI, Black A, Blot WJ, Bock CH, Bracci PM, Brinton LA, Bueno-de-Mesquita HB, Burdett L, Buring JE, Butler MA, Canzian F, Carreón T, Chaffee KG, Chang IS, Chatterjee N, Chen C, Chen C, Chen K, Chung CC, Cook LS, Crous Bou M, Cullen M, Davis FG, De Vivo I, Ding T, Doherty J, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF, Friedenreich CM, Fuchs CS, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Gaudet MM, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Henriksson R, Holly EA, Hong YC, Hoover RN, Hsiung CA, Hu N, Hu W, Hunter DJ, Hutchinson A, Jenab M, Johansen C, Khaw KT, Kim HN, Kim YH, Kim YT, Klein AP, Klein R, Koh WP, Kolonel LN, Kooperberg C, Kraft P, Krogh V, Kurtz RC, LaCroix A, Lan Q, Landi MT, Marchand LL, Li D, Liang X, Liao LM, Lin D, Liu J, Lissowska J, Lu L, Magliocco AM, Malats N, Matsuo K, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Moore L, Olson SH, Orlow I, Park JY, Patiño-Garcia A, Pepl… See abstract for full author list ➔ Machiela MJ, et al. Among authors: savage sa. Nat Commun. 2016 Jun 13;7:11843. doi: 10.1038/ncomms11843. Nat Commun. 2016. PMID: 27291797 Free PMC article.
372 results