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8. 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]
9. 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]
10. 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]
11. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Du HY; Pumbo E; Manley P; Field JJ; Bayliss SJ; Wilson DB; Mason PJ; Bessler M Blood; 2008 Feb; 111(3):1128-30. PubMed ID: 18042801 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Du HY; Idol R; Robledo S; Ivanovich J; An P; Londono-Vallejo A; Wilson DB; Mason PJ; Bessler M Aging Cell; 2007 Oct; 6(5):689-97. PubMed ID: 17875000 [TBL] [Abstract][Full Text] [Related]
14. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Marrone A; Sokhal P; Walne A; Beswick R; Kirwan M; Killick S; Williams M; Marsh J; Vulliamy T; Dokal I Haematologica; 2007 Aug; 92(8):1013-20. PubMed ID: 17640862 [TBL] [Abstract][Full Text] [Related]
15. Dysfunctional telomeres and dyskeratosis congenita. Bessler M; Du HY; Gu B; Mason PJ Haematologica; 2007 Aug; 92(8):1009-12. PubMed ID: 17650438 [No Abstract] [Full Text] [Related]
16. Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. He H; Wang Y; Guo X; Ramchandani S; Ma J; Shen MF; Garcia DA; Deng Y; Multani AS; You MJ; Chang S Mol Cell Biol; 2009 Jan; 29(1):229-40. PubMed ID: 18936156 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Hao LY; Armanios M; Strong MA; Karim B; Feldser DM; Huso D; Greider CW Cell; 2005 Dec; 123(6):1121-31. PubMed ID: 16360040 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]