192 related articles for article (PubMed ID: 15326392)
1. Heterozygous telomerase deficiency in mouse and man: when less is definitely not more.
Mason PJ; Bessler M
Cell Cycle; 2004 Sep; 3(9):1127-9. PubMed ID: 15326392
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The effect of TERC haploinsufficiency on the inheritance of telomere length.
Goldman F; Bouarich R; Kulkarni S; Freeman S; Du HY; Harrington L; Mason PJ; Londoño-Vallejo A; Bessler M
Proc Natl Acad Sci U S A; 2005 Nov; 102(47):17119-24. PubMed ID: 16284252
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
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. 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]
8. Telomeres and marrow failure.
Calado RT
Hematology Am Soc Hematol Educ Program; 2009; ():338-43. PubMed ID: 20008219
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy TJ; Walne A; Baskaradas A; Mason PJ; Marrone A; Dokal I
Blood Cells Mol Dis; 2005; 34(3):257-63. PubMed ID: 15885610
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.
Ly H; Schertzer M; Jastaniah W; Davis J; Yong SL; Ouyang Q; Blackburn EH; Parslow TG; Lansdorp PM
Blood; 2005 Aug; 106(4):1246-52. PubMed ID: 15886322
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Terada K; Miyake K; Yamaguchi H; Miyake N; Yamanaka K; Kojima S; Ito E; Inokuchi K; Okada T
Int J Lab Hematol; 2020 Jun; 42(3):316-321. PubMed ID: 32150348
[TBL] [Abstract][Full Text] [Related]
14. Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.
Mason PJ; Wilson DB; Bessler M
Curr Mol Med; 2005 Mar; 5(2):159-70. PubMed ID: 15974869
[TBL] [Abstract][Full Text] [Related]
15. HuR regulates telomerase activity through TERC methylation.
Tang H; Wang H; Cheng X; Fan X; Yang F; Zhang M; Chen Y; Tian Y; Liu C; Shao D; Jiang B; Dou Y; Cong Y; Xing J; Zhang X; Yi X; Songyang Z; Ma W; Zhao Y; Wang X; Ma J; Gorospe M; Ju Z; Wang W
Nat Commun; 2018 Jun; 9(1):2213. PubMed ID: 29880812
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Fernández-Varas B; Manguan-García C; Rodriguez-Centeno J; Mendoza-Lupiáñez L; Calatayud J; Perona R; Martín-Martínez M; Gutierrez-Rodriguez M; Benítez-Buelga C; Sastre L
Hum Mol Genet; 2024 Apr; 33(9):818-834. PubMed ID: 38641551
[TBL] [Abstract][Full Text] [Related]
18. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A; Walne A; Tamary H; Masunari Y; Kirwan M; Beswick R; Vulliamy T; Dokal I
Blood; 2007 Dec; 110(13):4198-205. PubMed ID: 17785587
[TBL] [Abstract][Full Text] [Related]
19. Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK; Wright WE; Shay JW
Nucleic Acids Res; 2007; 35(22):7406-16. PubMed ID: 17913752
[TBL] [Abstract][Full Text] [Related]
20. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
Kirwan M; Beswick R; Vulliamy T; Nathwani AC; Walne AJ; Casimir C; Dokal I
Br J Haematol; 2009 Mar; 144(5):771-81. PubMed ID: 19036115
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]