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Results: 1 to 20 of 31

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1.

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M.

Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.

PMID:
23946118
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
3.

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.

Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Review.

PMID:
21745483
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita.

Vuong LG, Hemmati PG, Neuburger S, Terwey TH, Vulliamy T, Dokal I, le Coutre P, Dörken B, Arnold R.

Acta Haematol. 2010;124(4):200-3. doi: 10.1159/000318721. Epub 2010 Nov 2.

PMID:
21042011
[PubMed - indexed for MEDLINE]
5.

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.

Bellodi C, Kopmar N, Ruggero D.

EMBO J. 2010 Jun 2;29(11):1865-76. doi: 10.1038/emboj.2010.83. Epub 2010 May 7.

PMID:
20453831
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.

Ashbridge B, Orte A, Yeoman JA, Kirwan M, Vulliamy T, Dokal I, Klenerman D, Balasubramanian S.

Biochemistry. 2009 Nov 24;48(46):10858-65. doi: 10.1021/bi901373e.

PMID:
19835419
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Nucleolus, ribosomes, and cancer.

Montanaro L, Treré D, Derenzini M.

Am J Pathol. 2008 Aug;173(2):301-10. doi: 10.2353/ajpath.2008.070752. Epub 2008 Jun 26. Review.

PMID:
18583314
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.

PMID:
17785587
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.

de la Fuente J, Dokal I.

Pediatr Transplant. 2007 Sep;11(6):584-94.

PMID:
17663679
[PubMed - indexed for MEDLINE]
10.

Dynamic association and localization of human H/ACA RNP proteins.

Kittur N, Darzacq X, Roy S, Singer RH, Meier UT.

RNA. 2006 Dec;12(12):2057-62. Epub 2006 Oct 24.

PMID:
17135485
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Dyskeratosis congenita.

Vulliamy T, Dokal I.

Semin Hematol. 2006 Jul;43(3):157-66. Review.

PMID:
16822458
[PubMed - indexed for MEDLINE]
12.

X-chromosome inactivation: role in skin disease expression.

Happle R.

Acta Paediatr Suppl. 2006 Apr;95(451):16-23. Review.

PMID:
16720460
[PubMed - indexed for MEDLINE]
13.

Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis.

Montanaro L, Tazzari PL, Derenzini M.

J Clin Pathol. 2003 Aug;56(8):583-6.

PMID:
12890806
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Dyskeratosis congenita.

Marrone A, Mason PJ.

Cell Mol Life Sci. 2003 Mar;60(3):507-17. Review.

PMID:
12737310
[PubMed - indexed for MEDLINE]
15.

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.

Lin JH, Lee JY, Tsao CJ, Chao SC.

Kaohsiung J Med Sci. 2002 Nov;18(11):573-7.

PMID:
12513020
[PubMed - indexed for MEDLINE]
16.

Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.

Montanaro L, Chillà A, Trerè D, Pession A, Govoni M, Tazzari PL, Derenzini M.

J Invest Dermatol. 2002 Jan;118(1):193-8.

PMID:
11851894
[PubMed - indexed for MEDLINE]
Free Article
17.

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.

Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I.

Hum Genet. 2001 Apr;108(4):299-303.

PMID:
11379875
[PubMed - indexed for MEDLINE]
18.

Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal.

Youssoufian H, Gharibyan V, Qatanani M.

Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):305-9.

PMID:
10744426
[PubMed - indexed for MEDLINE]
19.

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.

Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ.

Blood. 1999 Aug 15;94(4):1254-60.

PMID:
10438713
[PubMed - indexed for MEDLINE]
Free Article
20.

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A.

Am J Hum Genet. 1999 Jul;65(1):50-8.

PMID:
10364516
[PubMed - indexed for MEDLINE]
Free PMC Article

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