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Journal Abstract Search

156 related items for PubMed ID: 15886322

  • 1.
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  • 2. TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
    Terada K, Miyake K, Yamaguchi H, Miyake N, Yamanaka K, Kojima S, Ito E, Inokuchi K, Okada T.
    Int J Lab Hematol; 2020 Jun; 42(3):316-321. PubMed ID: 32150348
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
    Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I.
    Nat Genet; 2004 May 22; 36(5):447-9. PubMed ID: 15098033
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 92(8):1013-20. PubMed ID: 17640862
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  • 6. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.
    Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, Read EJ, Lansdorp PM, Young NS.
    Lancet; 2003 Nov 15; 362(9396):1628-30. PubMed ID: 14630445
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  • 7. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.
    Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, Young NS.
    Blood; 2003 Aug 01; 102(3):916-8. PubMed ID: 12676774
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  • 8. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.
    Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ.
    Blood; 2004 Dec 15; 104(13):3936-42. PubMed ID: 15319288
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 28(7):450-3. PubMed ID: 16825992
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  • 12. Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
    Vieri M, Kirschner M, Tometten M, Abels A, Rolles B, Isfort S, Panse J, Brümmendorf TH, Beier F.
    Int J Mol Sci; 2020 Sep 29; 21(19):. PubMed ID: 33003434
    [Abstract] [Full Text] [Related]

  • 13. HuR regulates telomerase activity through TERC methylation.
    Tang H, Wang H, Cheng X, Fan X, Yang F, Zhang M, Chen Y, Tian Y, Liu C, Shao D, Jiang B, Dou Y, Cong Y, Xing J, Zhang X, Yi X, Songyang Z, Ma W, Zhao Y, Wang X, Ma J, Gorospe M, Ju Z, Wang W.
    Nat Commun; 2018 Jun 07; 9(1):2213. PubMed ID: 29880812
    [Abstract] [Full Text] [Related]

  • 14. Dyskeratosis congenita and telomerase.
    Bessler M, Wilson DB, Mason PJ.
    Curr Opin Pediatr; 2004 Feb 07; 16(1):23-8. PubMed ID: 14758110
    [Abstract] [Full Text] [Related]

  • 15. Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
    Xin ZT, Beauchamp AD, Calado RT, Bradford JW, Regal JA, Shenoy A, Liang Y, Lansdorp PM, Young NS, Ly H.
    Blood; 2007 Jan 15; 109(2):524-32. PubMed ID: 16990594
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  • 16. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
    Vulliamy TJ, Dokal I.
    Biochimie; 2008 Jan 15; 90(1):122-30. PubMed ID: 17825470
    [Abstract] [Full Text] [Related]

  • 17. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
    Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.
    Hum Mol Genet; 2007 Jul 01; 16(13):1619-29. PubMed ID: 17507419
    [Abstract] [Full Text] [Related]

  • 18. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
    Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M.
    Blood; 2008 Feb 01; 111(3):1128-30. PubMed ID: 18042801
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
    Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I.
    Blood Cells Mol Dis; 2005 Feb 01; 34(3):257-63. PubMed ID: 15885610
    [Abstract] [Full Text] [Related]

  • 20. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
    Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I.
    Nature; 2001 Sep 27; 413(6854):432-5. PubMed ID: 11574891
    [Abstract] [Full Text] [Related]

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