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Journal Abstract Search

200 related items for PubMed ID: 24948335

  • 1. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.
    Ueda Y, Calado RT, Norberg A, Kajigaya S, Roos G, Hellstrom-Lindberg E, Young NS.
    BMC Med Genet; 2014 Jun 19; 15():68. PubMed ID: 24948335
    [Abstract] [Full Text] [Related]

  • 2. The effect of TERC haploinsufficiency on the inheritance of telomere length.
    Goldman F, Bouarich R, Kulkarni S, Freeman S, Du HY, Harrington L, Mason PJ, Londoño-Vallejo A, Bessler M.
    Proc Natl Acad Sci U S A; 2005 Nov 22; 102(47):17119-24. PubMed ID: 16284252
    [Abstract] [Full Text] [Related]

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  • 4. AGO2 promotes telomerase activity and interaction between the telomerase components TERT and TERC.
    Laudadio I, Orso F, Azzalin G, Calabrò C, Berardinelli F, Coluzzi E, Gioiosa S, Taverna D, Sgura A, Carissimi C, Fulci V.
    EMBO Rep; 2019 Feb 22; 20(2):. PubMed ID: 30591524
    [Abstract] [Full Text] [Related]

  • 5. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
    Vulliamy TJ, Dokal I.
    Biochimie; 2008 Jan 22; 90(1):122-30. PubMed ID: 17825470
    [Abstract] [Full Text] [Related]

  • 6. Telomerase gene mutations and telomere length shortening in patients with idiopathic pulmonary fibrosis in a Chinese population.
    Dai J, Cai H, Zhuang Y, Wu Y, Min H, Li J, Shi Y, Gao Q, Yi L.
    Respirology; 2015 Jan 22; 20(1):122-8. PubMed ID: 25346280
    [Abstract] [Full Text] [Related]

  • 7. Human telomere disease due to disruption of the CCAAT box of the TERC promoter.
    Aalbers AM, Kajigaya S, van den Heuvel-Eibrink MM, van der Velden VH, Calado RT, Young NS.
    Blood; 2012 Mar 29; 119(13):3060-3. PubMed ID: 22323451
    [Abstract] [Full Text] [Related]

  • 8. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
    Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I.
    Haematologica; 2007 Aug 29; 92(8):1013-20. PubMed ID: 17640862
    [Abstract] [Full Text] [Related]

  • 9. Telomerase gene screening and telomere overhang detection in Chinese patients with myelodysplastic syndrome.
    Yan S, Han B, Li H, Wu Y, Zhou D, Zhao Y.
    Leuk Res; 2013 Oct 29; 37(10):1359-62. PubMed ID: 23896060
    [Abstract] [Full Text] [Related]

  • 10. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.
    Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB.
    J Pediatr Hematol Oncol; 2006 Jul 29; 28(7):450-3. PubMed ID: 16825992
    [Abstract] [Full Text] [Related]

  • 11. Telomeres and marrow failure.
    Calado RT.
    Hematology Am Soc Hematol Educ Program; 2009 Jul 29; ():338-43. PubMed ID: 20008219
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. Telomere maintenance and human bone marrow failure.
    Calado RT, Young NS.
    Blood; 2008 May 01; 111(9):4446-55. PubMed ID: 18239083
    [Abstract] [Full Text] [Related]

  • 14. [Abnormality of telomere maintenance linked to bone marrow failures].
    Yamaguchi H.
    Nihon Rinsho; 2008 Mar 01; 66(3):483-9. PubMed ID: 18326318
    [Abstract] [Full Text] [Related]

  • 15. Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
    Schratz KE, Gaysinskaya V, Cosner ZL, DeBoy EA, Xiang Z, Kasch-Semenza L, Florea L, Shah PD, Armanios M.
    J Clin Invest; 2021 Sep 15; 131(18):. PubMed ID: 34343137
    [Abstract] [Full Text] [Related]

  • 16. Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.
    Du HY, Idol R, Robledo S, Ivanovich J, An P, Londono-Vallejo A, Wilson DB, Mason PJ, Bessler M.
    Aging Cell; 2007 Oct 15; 6(5):689-97. PubMed ID: 17875000
    [Abstract] [Full Text] [Related]

  • 17. Lung alveolar integrity is compromised by telomere shortening in telomerase-null mice.
    Lee J, Reddy R, Barsky L, Scholes J, Chen H, Shi W, Driscoll B.
    Am J Physiol Lung Cell Mol Physiol; 2009 Jan 15; 296(1):L57-70. PubMed ID: 18952756
    [Abstract] [Full Text] [Related]

  • 18. Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC.
    Gourronc FA, Robertson mM, Herrig AK, Lansdorp PM, Goldman FD, Klingelhutz AJ.
    Exp Dermatol; 2010 Mar 15; 19(3):279-88. PubMed ID: 19558498
    [Abstract] [Full Text] [Related]

  • 19. Telomere homeostasis in trophoblasts and in cord blood cells from pregnancies complicated with preeclampsia.
    Sukenik-Halevy R, Amiel A, Kidron D, Liberman M, Ganor-Paz Y, Biron-Shental T.
    Am J Obstet Gynecol; 2016 Feb 15; 214(2):283.e1-283.e7. PubMed ID: 26321036
    [Abstract] [Full Text] [Related]

  • 20. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
    Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.
    N Engl J Med; 2005 Apr 07; 352(14):1413-24. PubMed ID: 15814878
    [Abstract] [Full Text] [Related]

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