369 related articles for article (PubMed ID: 22058290)
1. 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; 21(4):721-9. PubMed ID: 22058290
[TBL] [Abstract][Full Text] [Related]
2. 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; 10(5):e0127414. PubMed ID: 25992652
[TBL] [Abstract][Full Text] [Related]
3. 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; 22(17):3498-507. PubMed ID: 23660516
[TBL] [Abstract][Full Text] [Related]
4. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
Parry EM; Alder JK; Lee SS; Phillips JA; Loyd JE; Duggal P; Armanios M
J Med Genet; 2011 May; 48(5):327-33. PubMed ID: 21415081
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24115260
[TBL] [Abstract][Full Text] [Related]
6. N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.
MacNeil DE; Lambert-Lanteigne P; Autexier C
Nucleic Acids Res; 2019 Jun; 47(10):5368-5380. PubMed ID: 30931479
[TBL] [Abstract][Full Text] [Related]
7. Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ; Marrone A; Dokal I
Int J Hematol; 2005 Oct; 82(3):184-9. PubMed ID: 16207588
[TBL] [Abstract][Full Text] [Related]
8. 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; 474(7351):399-402. PubMed ID: 21602826
[TBL] [Abstract][Full Text] [Related]
9. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.
Wong JM; Collins K
Genes Dev; 2006 Oct; 20(20):2848-58. PubMed ID: 17015423
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17381549
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 22855157
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 24065372
[TBL] [Abstract][Full Text] [Related]
13. A telomerase component is defective in the human disease dyskeratosis congenita.
Mitchell JR; Wood E; Collins K
Nature; 1999 Dec; 402(6761):551-5. PubMed ID: 10591218
[TBL] [Abstract][Full Text] [Related]
14. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ; Dokal I
Biochimie; 2008 Jan; 90(1):122-30. PubMed ID: 17825470
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T; Beswick R; Kirwan M; Marrone A; Digweed M; Walne A; Dokal I
Proc Natl Acad Sci U S A; 2008 Jun; 105(23):8073-8. PubMed ID: 18523010
[TBL] [Abstract][Full Text] [Related]
16. Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC.
Gourronc FA; Robertson mM; Herrig AK; Lansdorp PM; Goldman FD; Klingelhutz AJ
Exp Dermatol; 2010 Mar; 19(3):279-88. PubMed ID: 19558498
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 15753647
[TBL] [Abstract][Full Text] [Related]
18. Dyskeratosis congenita: telomerase, telomeres and anticipation.
Marrone A; Walne A; Dokal I
Curr Opin Genet Dev; 2005 Jun; 15(3):249-57. PubMed ID: 15917199
[TBL] [Abstract][Full Text] [Related]
19. 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; 101(29):10756-61. PubMed ID: 15240872
[TBL] [Abstract][Full Text] [Related]
20. Mutant dyskerin ends relationship with telomerase.
Shay JW; Wright WE
Science; 1999 Dec; 286(5448):2284-5. PubMed ID: 10636790
[No Abstract] [Full Text] [Related]
[Next] [New Search]