399 related articles for article (PubMed ID: 23660516)
1. 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]
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. PubMed ID: 24115260
[TBL] [Abstract][Full Text] [Related]
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; 21(4):721-9. PubMed ID: 22058290
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A; Dokal I
Expert Rev Mol Med; 2004 Dec; 6(26):1-23. PubMed ID: 15613268
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.
Qin J; Garus A; Autexier C
Hum Mol Genet; 2024 Feb; 33(4):318-332. PubMed ID: 37879098
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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; 48(46):10858-65. PubMed ID: 19835419
[TBL] [Abstract][Full Text] [Related]
16. Stem cells, telomerase and dyskeratosis congenita.
Mason PJ
Bioessays; 2003 Feb; 25(2):126-33. PubMed ID: 12539238
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in
Rodriguez-Centeno J; Perona R; Sastre L
Cells; 2019 Nov; 8(11):. PubMed ID: 31717312
[TBL] [Abstract][Full Text] [Related]
20. Dyskeratosis congenita: its link to telomerase and aplastic anaemia.
Dokal I; Vulliamy T
Blood Rev; 2003 Dec; 17(4):217-25. PubMed ID: 14556776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
