Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 174

1.

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.

2.

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
3.

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.

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.

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
6.

Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.

Cerone MA, Ward RJ, Londoño-Vallejo JA, Autexier C.

Cell Cycle. 2005 Apr;4(4):585-9. Epub 2005 Apr 3.

PMID:
15753647
7.

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.

8.

Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

Westin ER, Chavez E, Lee KM, Gourronc FA, Riley S, Lansdorp PM, Goldman FD, Klingelhutz AJ.

Aging Cell. 2007 Jun;6(3):383-94. Epub 2007 Mar 23.

9.

A telomerase component is defective in the human disease dyskeratosis congenita.

Mitchell JR, Wood E, Collins K.

Nature. 1999 Dec 2;402(6761):551-5.

PMID:
10591218
10.

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
11.

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.

12.

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.

13.

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.

14.

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
15.

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A, Dokal I.

Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. Review.

PMID:
15613268
16.

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.

17.

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.

Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP.

Science. 2003 Jan 10;299(5604):259-62.

18.

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.

Mochizuki Y, He J, Kulkarni S, Bessler M, Mason PJ.

Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10756-61. Epub 2004 Jul 7.

19.

Mutant dyskerin ends relationship with telomerase.

Shay JW, Wright WE.

Science. 1999 Dec 17;286(5448):2284-5. No abstract available.

PMID:
10636790
20.

Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.

Wong JM, Kyasa MJ, Hutchins L, Collins K.

Hum Genet. 2004 Oct;115(5):448-55. Epub 2004 Sep 3.

PMID:
15349768
Items per page

Supplemental Content

Write to the Help Desk