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    Results: 1 to 20 of 29

    1.

    Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

    Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA.

    Hum Genet. 2013 Apr;132(4):473-80. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18.

    PMID:
    23329068
    [PubMed - indexed for MEDLINE]
    2.

    Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

    Gleeson M, O'Marcaigh A, Cotter M, Brosnahan D, Vulliamy T, Smith OP.

    Br J Haematol. 2012 Dec;159(5):498. doi: 10.1111/bjh.12088. Epub 2012 Oct 24. No abstract available.

    PMID:
    23094712
    [PubMed - indexed for MEDLINE]
    3.

    Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.

    Beier F, Foronda M, Martinez P, Blasco MA.

    Blood. 2012 Oct 11;120(15):2990-3000. doi: 10.1182/blood-2012-03-418038. Epub 2012 Aug 29.

    PMID:
    22932806
    [PubMed - indexed for MEDLINE]
    4.

    Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita.

    Qureishi A, Lamyman A, Silva P, Cox G.

    J Laryngol Otol. 2012 Dec;126(12):1299-301. doi: 10.1017/S0022215112001685. Epub 2012 Aug 29.

    PMID:
    22932338
    [PubMed - indexed for MEDLINE]
    5.

    Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.

    Machado-Pinilla R, Carrillo J, Manguan-Garcia C, Sastre L, Mentzer A, Gu BW, Mason PJ, Perona R.

    Clin Transl Oncol. 2012 Oct;14(10):755-63. doi: 10.1007/s12094-012-0865-4. Epub 2012 Jul 24.

    PMID:
    22855157
    [PubMed - indexed for MEDLINE]
    6.

    Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

    Aslan D, Akata RF, Holme H, Vulliamy T, Dokal I.

    Int Ophthalmol. 2012 Dec;32(6):615-22. doi: 10.1007/s10792-012-9611-8. Epub 2012 Jul 20.

    PMID:
    22814958
    [PubMed - indexed for MEDLINE]
    7.

    Eltrombopag fails to improve severe thrombocytopenia in late-stage dyskeratosis congenita and diamond-blackfan-anaemia.

    Trautmann K, Jakob C, von Grünhagen U, Schleyer E, Brümmendorf TH, Siegert G, Ehninger G, Platzbecker U.

    Thromb Haemost. 2012 Aug;108(2):397-8. doi: 10.1160/TH12-02-0121. Epub 2012 Jun 28. No abstract available.

    PMID:
    22739569
    [PubMed - indexed for MEDLINE]
    8.

    Marathon of eponyms: 26 Zinsser-Engman-Cole syndrome (Dyskeratosis congenita).

    Scully C, Langdon J, Evans J.

    Oral Dis. 2012 Jul;18(5):522-3. doi: 10.1111/j.1601-0825.2009.01558.x. Review.

    PMID:
    22672294
    [PubMed - indexed for MEDLINE]
    9.

    High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

    Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R.

    Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2.

    PMID:
    22664374
    [PubMed - indexed for MEDLINE]
    10.

    CTC1 Mutations in a patient with dyskeratosis congenita.

    Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S.

    Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24.

    PMID:
    22532422
    [PubMed - indexed for MEDLINE]
    11.

    Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

    Rackley S, Pao M, Seratti GF, Giri N, Rasimas JJ, Alter BP, Savage SA.

    Psychosomatics. 2012 May;53(3):230-5. doi: 10.1016/j.psym.2011.09.003. Epub 2012 Mar 27.

    PMID:
    22458992
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

    Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP.

    Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.

    PMID:
    22341970
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    The genetics of dyskeratosis congenita.

    Mason PJ, Bessler M.

    Cancer Genet. 2011 Dec;204(12):635-45. doi: 10.1016/j.cancergen.2011.11.002. Review.

    PMID:
    22285015
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    A reduced intensity conditioning regimen of fludarabine, cyclophosphamide, antithymocyte globulin, plus 2 Gy TBI facilitates successful hematopoietic cell engraftment in an adult with dyskeratosis congenita.

    Kharfan-Dabaja MA, Otrock ZK, Bacigalupo A, Mahfouz RA, Geara F, Bazarbachi A.

    Bone Marrow Transplant. 2012 Sep;47(9):1254-5. doi: 10.1038/bmt.2011.257. Epub 2012 Jan 16. No abstract available.

    PMID:
    22246089
    [PubMed - indexed for MEDLINE]
    15.

    Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.

    Li S, Duan J, Li D, Ma S, Ye K.

    EMBO J. 2011 Nov 25;30(24):5010-20. doi: 10.1038/emboj.2011.427.

    PMID:
    22117216
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.

    Jack K, Bellodi C, Landry DM, Niederer RO, Meskauskas A, Musalgaonkar S, Kopmar N, Krasnykh O, Dean AM, Thompson SR, Ruggero D, Dinman JD.

    Mol Cell. 2011 Nov 18;44(4):660-6. doi: 10.1016/j.molcel.2011.09.017.

    PMID:
    22099312
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

    Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P.

    J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.

    PMID:
    22078571
    [PubMed - indexed for MEDLINE]
    18.

    The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

    Zeng XL, Thumati NR, Fleisig HB, Hukezalie KR, Savage SA, Giri N, Alter BP, Wong JM.

    Hum Mol Genet. 2012 Feb 15;21(4):721-9. doi: 10.1093/hmg/ddr504. Epub 2011 Nov 4.

    PMID:
    22058290
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

    Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA.

    Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4.

    PMID:
    22058220
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    The relationship between DNA methylation and telomere length in dyskeratosis congenita.

    Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA.

    Aging Cell. 2012 Feb;11(1):24-8. doi: 10.1111/j.1474-9726.2011.00755.x. Epub 2011 Nov 15.

    PMID:
    21981348
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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