348 related articles for article (PubMed ID: 21931702)
1. Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
Vulliamy TJ; Kirwan MJ; Beswick R; Hossain U; Baqai C; Ratcliffe A; Marsh J; Walne A; Dokal I
PLoS One; 2011; 6(9):e24383. PubMed ID: 21931702
[TBL] [Abstract][Full Text] [Related]
2. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
Blood; 2008 Nov; 112(9):3594-600. PubMed ID: 18669893
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Telomere maintenance and human bone marrow failure.
Calado RT; Young NS
Blood; 2008 May; 111(9):4446-55. PubMed ID: 18239083
[TBL] [Abstract][Full Text] [Related]
5. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Savage SA; Giri N; Baerlocher GM; Orr N; Lansdorp PM; Alter BP
Am J Hum Genet; 2008 Feb; 82(2):501-9. PubMed ID: 18252230
[TBL] [Abstract][Full Text] [Related]
6. Advances in the understanding of dyskeratosis congenita.
Walne AJ; Dokal I
Br J Haematol; 2009 Apr; 145(2):164-72. PubMed ID: 19208095
[TBL] [Abstract][Full Text] [Related]
7. The relationship between DNA methylation and telomere length in dyskeratosis congenita.
Gadalla SM; Katki HA; Shebl FM; Giri N; Alter BP; Savage SA
Aging Cell; 2012 Feb; 11(1):24-8. PubMed ID: 21981348
[TBL] [Abstract][Full Text] [Related]
8. Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening.
Ibáñez-Cabellos JS; Pérez-Machado G; Seco-Cervera M; Berenguer-Pascual E; García-Giménez JL; Pallardó FV
Redox Biol; 2018 Apr; 14():398-408. PubMed ID: 29055871
[TBL] [Abstract][Full Text] [Related]
9. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Gramatges MM; Bertuch AA
Transl Res; 2013 Dec; 162(6):353-63. PubMed ID: 23732052
[TBL] [Abstract][Full Text] [Related]
10. High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Carrillo J; Martínez P; Solera J; Moratilla C; González A; Manguán-García C; Aymerich M; Canal L; Del Campo M; Dapena JL; Escoda L; García-Sagredo JM; Martín-Sala S; Rives S; Sevilla J; Sastre L; Perona R
Blood Cells Mol Dis; 2012 Oct 15-Dec 15; 49(3-4):140-6. PubMed ID: 22664374
[TBL] [Abstract][Full Text] [Related]
11. Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.
Calado RT; Regal JA; Kajigaya S; Young NS
Eur J Clin Invest; 2009 Nov; 39(11):1025-32. PubMed ID: 19674077
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres.
Cantara S; Capuano S; Capezzone M; Benigni M; Pisu M; Marchisotta S; Pacini F
Thyroid; 2012 Apr; 22(4):363-8. PubMed ID: 22304389
[TBL] [Abstract][Full Text] [Related]
14. Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.
Savage SA; Giri N; Jessop L; Pike K; Plona T; Burdett L; Alter BP
J Med Genet; 2011 Apr; 48(4):285-8. PubMed ID: 21209122
[TBL] [Abstract][Full Text] [Related]
15. TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
Yang D; He Q; Kim H; Ma W; Songyang Z
J Biol Chem; 2011 Jul; 286(26):23022-30. PubMed ID: 21536674
[TBL] [Abstract][Full Text] [Related]
16. [Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].
Wan Y; An WB; Zhang JY; Zhang JL; Zhang RR; Zhu S; Chang LX; Zhang YC; Liu F; Yang WY; Chen XJ; Zou Y; Chen YM; Zhu XF
Zhonghua Xue Ye Xue Za Zhi; 2016 Mar; 37(3):216-20. PubMed ID: 27033759
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Du HY; Pumbo E; Ivanovich J; An P; Maziarz RT; Reiss UM; Chirnomas D; Shimamura A; Vlachos A; Lipton JM; Goyal RK; Goldman F; Wilson DB; Mason PJ; Bessler M
Blood; 2009 Jan; 113(2):309-16. PubMed ID: 18931339
[TBL] [Abstract][Full Text] [Related]
20. Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
Pereboeva L; Hubbard M; Goldman FD; Westin ER
PLoS One; 2016; 11(2):e0148793. PubMed ID: 26859482
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]