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Volumn 42, Issue 6, 2013, Pages 1757-1759

Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; LACTATE DEHYDROGENASE;

EID: 84890110189     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00149113     Document Type: Letter
Times cited : (45)

References (10)
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    • Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
    • Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107: 2680-2685.
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3
  • 3
    • 55749094159 scopus 로고    scopus 로고
    • 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, et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008; 112: 3594-3600.
    • (2008) Blood , vol.112 , pp. 3594-3600
    • Walne, A.J.1    Vulliamy, T.2    Beswick, R.3
  • 4
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3
  • 5
    • 35648999925 scopus 로고    scopus 로고
    • Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
    • Marrone A, Sokhal P, Walne A, et al. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica 2007; 92: 1013-1020.
    • (2007) Haematologica , vol.92 , pp. 1013-1020
    • Marrone, A.1    Sokhal, P.2    Walne, A.3
  • 6
    • 27644574342 scopus 로고    scopus 로고
    • Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    • Armanios M, Chen JL, Chang YP, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005; 102: 15960-15964.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15960-15964
    • Armanios, M.1    Chen, J.L.2    Chang, Y.P.3
  • 7
    • 15944422499 scopus 로고    scopus 로고
    • Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
    • Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005; 352: 1413-1424.
    • (2005) N Engl J Med , vol.352 , pp. 1413-1424
    • Yamaguchi, H.1    Calado, R.T.2    Ly, H.3
  • 8
    • 0034772743 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita: Restrictive pulmonary disease and a novel mutation
    • Safa WF, Lestringant GG, Frossard PM. X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. Thorax 2001; 56: 891-894.
    • (2001) Thorax , vol.56 , pp. 891-894
    • Safa, W.F.1    Lestringant, G.G.2    Frossard, P.M.3
  • 9
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    • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008; 82: 501-509.
    • (2008) Am J Hum Genet , vol.82 , pp. 501-509
    • Savage, S.A.1    Giri, N.2    Baerlocher, G.M.3
  • 10
    • 24944460598 scopus 로고    scopus 로고
    • Shelterin: The protein complex that shapes and safeguards human telomeres
    • de Lange T. Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005; 19: 2100-2110.
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    • De Lange, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.