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Items: 1 to 20 of 111

1.

Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.

Manguan-Garcia C, Pintado-Berninches L, Carrillo J, Machado-Pinilla R, Sastre L, Pérez-Quilis C, Esmoris I, Gimeno A, García-Giménez JL, Pallardó FV, Perona R.

PLoS One. 2014 Jul 2;9(7):e101424. doi: 10.1371/journal.pone.0101424. eCollection 2014.

2.

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.

3.

GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.

Iarriccio L, Manguán-García C, Pintado-Berninches L, Mancheño JM, Molina A, Perona R, Sastre L.

PLoS One. 2015 Nov 16;10(11):e0142980. doi: 10.1371/journal.pone.0142980. eCollection 2015.

4.

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

Gu BW, Apicella M, Mills J, Fan JM, Reeves DA, French D, Podsakoff GM, Bessler M, Mason PJ.

PLoS One. 2015 May 18;10(5):e0127414. doi: 10.1371/journal.pone.0127414. eCollection 2015.

5.

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.

Thumati NR, Zeng XL, Au HH, Jang CJ, Jan E, Wong JM.

Hum Mutat. 2013 Dec;34(12):1698-707. doi: 10.1002/humu.22447. Epub 2013 Oct 21.

PMID:
24115260
6.

A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells.

Machado-Pinilla R, Sánchez-Pérez I, Murguía JR, Sastre L, Perona R.

Blood. 2008 Mar 1;111(5):2606-14. Epub 2007 Dec 5.

7.

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.

8.

p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage.

Carrillo J, González A, Manguán-García C, Pintado-Berninches L, Perona R.

Clin Transl Oncol. 2014 Jun;16(6):529-38. doi: 10.1007/s12094-013-1112-3. Epub 2013 Sep 25.

PMID:
24065372
9.

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

Parry EM, Alder JK, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, Armanios M.

J Med Genet. 2011 May;48(5):327-33. doi: 10.1136/jmg.2010.085100. Epub 2011 Mar 17.

10.

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.

Gu BW, Bessler M, Mason PJ.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10173-8. doi: 10.1073/pnas.0803559105. Epub 2008 Jul 14.

11.

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE.

Nature. 2011 May 22;474(7351):399-402. doi: 10.1038/nature10084.

12.

Dyskeratosis congenita: a disorder of defective telomere maintenance?

Walne AJ, Marrone A, Dokal I.

Int J Hematol. 2005 Oct;82(3):184-9. Review.

PMID:
16207588
13.

Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment.

Gu BW, Fan JM, Bessler M, Mason PJ.

Aging Cell. 2011 Apr;10(2):338-48. doi: 10.1111/j.1474-9726.2011.00674.x. Epub 2011 Feb 21.

14.

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.

Wong JM, Collins K.

Genes Dev. 2006 Oct 15;20(20):2848-58. Epub 2006 Oct 2.

15.

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

Brault ME, Lauzon C, Autexier C.

Hum Mol Genet. 2013 Sep 1;22(17):3498-507. doi: 10.1093/hmg/ddt204. Epub 2013 May 8. Erratum in: Hum Mol Genet. 2014 Jan 1;23(1):279-80.

16.

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

Vulliamy TJ, Knight SW, Mason PJ, Dokal I.

Blood Cells Mol Dis. 2001 Mar-Apr;27(2):353-7.

PMID:
11259155
17.

Acute dyskerin depletion triggers cellular senescence and renders osteosarcoma cells resistant to genotoxic stress-induced apoptosis.

Lin P, Mobasher ME, Alawi F.

Biochem Biophys Res Commun. 2014 Apr 18;446(4):1268-75. doi: 10.1016/j.bbrc.2014.03.114. Epub 2014 Mar 29.

18.

Dyskerin, telomerase and the DNA damage response.

Gu B, Bessler M, Mason PJ.

Cell Cycle. 2009 Jan 1;8(1):6-10. Epub 2009 Jan 24. Review.

PMID:
19106610
19.

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
20.

Dyskeratosis congenita: a genetic disorder of many faces.

Kirwan M, Dokal I.

Clin Genet. 2008 Feb;73(2):103-12. Epub 2007 Nov 14. Review.

PMID:
18005359
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