638 related articles for article (PubMed ID: 11574891)
1. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Vulliamy T; Marrone A; Goldman F; Dearlove A; Bessler M; Mason PJ; Dokal I
Nature; 2001 Sep; 413(6854):432-5. PubMed ID: 11574891
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Dyskeratosis congenita.
Marrone A; Mason PJ
Cell Mol Life Sci; 2003 Mar; 60(3):507-17. PubMed ID: 12737310
[TBL] [Abstract][Full Text] [Related]
5. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Walne AJ; Vulliamy T; Marrone A; Beswick R; Kirwan M; Masunari Y; Al-Qurashi FH; Aljurf M; Dokal I
Hum Mol Genet; 2007 Jul; 16(13):1619-29. PubMed ID: 17507419
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Vulliamy T; Marrone A; Szydlo R; Walne A; Mason PJ; Dokal I
Nat Genet; 2004 May; 36(5):447-9. PubMed ID: 15098033
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
Ratnasamy V; Navaneethakrishnan S; Sirisena ND; Grüning NM; Brandau O; Thirunavukarasu K; Dagnall CL; McReynolds LJ; Savage SA; Dissanayake VHW
BMC Med Genet; 2018 May; 19(1):85. PubMed ID: 29801475
[TBL] [Abstract][Full Text] [Related]
10. Stem cells, telomerase and dyskeratosis congenita.
Mason PJ
Bioessays; 2003 Feb; 25(2):126-33. PubMed ID: 12539238
[TBL] [Abstract][Full Text] [Related]
11. Dyskeratosis congenita and telomerase.
Bessler M; Wilson DB; Mason PJ
Curr Opin Pediatr; 2004 Feb; 16(1):23-8. PubMed ID: 14758110
[TBL] [Abstract][Full Text] [Related]
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; 22(17):3498-507. PubMed ID: 23660516
[TBL] [Abstract][Full Text] [Related]
13. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Armanios M; Chen JL; Chang YP; Brodsky RA; Hawkins A; Griffin CA; Eshleman JR; Cohen AR; Chakravarti A; Hamosh A; Greider CW
Proc Natl Acad Sci U S A; 2005 Nov; 102(44):15960-4. PubMed ID: 16247010
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
