메뉴 건너뛰기




Volumn 34, Issue 3, 2005, Pages 257-263

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

Author keywords

Bone marrow; Mutation; Telomerase

Indexed keywords

RNA DIRECTED DNA POLYMERASE; TELOMERASE;

EID: 18844421369     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.12.008     Document Type: Article
Times cited : (167)

References (33)
  • 1
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • I. Dokal Dyskeratosis congenita in all its forms Br. J. Haematol. 110 2000 768 779
    • (2000) Br. J. Haematol. , vol.110 , pp. 768-779
    • Dokal, I.1
  • 2
    • 0141763835 scopus 로고    scopus 로고
    • Telomere maintenance and disease
    • J.M. Wong, and K. Collins Telomere maintenance and disease Lancet 362 2003 983 988
    • (2003) Lancet , vol.362 , pp. 983-988
    • Wong, J.M.1    Collins, K.2
  • 3
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • T. Vulliamy, A. Marrone, F. Goldman, A. Dearlove, M. Bessler, P.J. Mason, and I. Dokal The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature 413 2001 432 435
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3    Dearlove, A.4    Bessler, M.5    Mason, P.J.6    Dokal, I.7
  • 4
    • 0037157582 scopus 로고    scopus 로고
    • Association between aplastic anaemia and mutations in telomerase RNA
    • T.J. Vulliamy, A. Marrone, I. Dokal, and P.J. Mason Association between aplastic anaemia and mutations in telomerase RNA Lancet 359 2002 2168 2170
    • (2002) Lancet , vol.359 , pp. 2168-2170
    • Vulliamy, T.J.1    Marrone, A.2    Dokal, I.3    Mason, P.J.4
  • 5
    • 0041592752 scopus 로고    scopus 로고
    • Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
    • H. Yamaguchi, G.M. Baerlocher, P.M. Lansdorp, S.J. Chanock, O. Nunez, E. Sloand, and N.S. Young Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome Blood 102 2003 916 918
    • (2003) Blood , vol.102 , pp. 916-918
    • Yamaguchi, H.1    Baerlocher, G.M.2    Lansdorp, P.M.3    Chanock, S.J.4    Nunez, O.5    Sloand, E.6    Young, N.S.7
  • 10
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • N.S. Heiss, S.W. Knight, T.J. Vulliamy, S.M. Klauck, S. Wiemann, P.J. Mason, A. Poustka, and I. Dokal X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat. Genet. 19 1998 32 38
    • (1998) Nat. Genet. , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6    Poustka, A.7    Dokal, I.8
  • 11
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • J.R. Mitchell, E. Wood, and K. Collins A telomerase component is defective in the human disease dyskeratosis congenita Nature 402 1999 551 555
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 12
    • 0034966374 scopus 로고    scopus 로고
    • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    • T.J. Vulliamy, S.W. Knight, P.J. Mason, and I. Dokal Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita Blood Cells, Mol. Dis. 27 2001 353 357
    • (2001) Blood Cells, Mol. Dis. , vol.27 , pp. 353-357
    • Vulliamy, T.J.1    Knight, S.W.2    Mason, P.J.3    Dokal, I.4
  • 14
    • 0031745970 scopus 로고    scopus 로고
    • Dyskeratosis and ribosomal rebellion
    • L. Luzzatto, and A. Karadimitris Dyskeratosis and ribosomal rebellion Nat. Genet. 19 1998 6 7
    • (1998) Nat. Genet. , vol.19 , pp. 6-7
    • Luzzatto, L.1    Karadimitris, A.2
  • 16
    • 3242656131 scopus 로고    scopus 로고
    • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity and ribosomal RNA processing
    • Y. Mochizuki, H. He, S. Kulkarni, M. Bessler, and P.J. Mason Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity and ribosomal RNA processing Proc. Natl. Acad. Sci. U. S. A. 101 2004 10756 10761
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 10756-10761
    • Mochizuki, Y.1    He, H.2    Kulkarni, S.3    Bessler, M.4    Mason, P.J.5
  • 19
    • 2442617343 scopus 로고    scopus 로고
    • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    • T. Vulliamy, A. Marrone, R. Szydlo, A. Walne, P.J. Mason, and I. Dokal Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC Nat. Genet. 36 2004 447 449
    • (2004) Nat. Genet. , vol.36 , pp. 447-449
    • Vulliamy, T.1    Marrone, A.2    Szydlo, R.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 20
    • 0035865618 scopus 로고    scopus 로고
    • Telomere length in leukocyte subpopulations of patients with aplastic anemia
    • T. Brummendorf, J.P. Maciejeweski, J. Mak, N.S. Young, and P.M. Lansdorp Telomere length in leukocyte subpopulations of patients with aplastic anemia Blood 97 2001 895 900
    • (2001) Blood , vol.97 , pp. 895-900
    • Brummendorf, T.1    MacIejeweski, J.P.2    Mak, J.3    Young, N.S.4    Lansdorp, P.M.5
  • 21
    • 0032705706 scopus 로고    scopus 로고
    • Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) is caused by mutation in the DKC1 gene
    • S.W. Knight, N.S. Heiss, T.J. Vulliamy, C.M. Aalfs, R.C.M. Hennekman, P.J. Mason, and I. Dokal Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) is caused by mutation in the DKC1 gene Br. J. Haematol. 107 1999 335 339
    • (1999) Br. J. Haematol. , vol.107 , pp. 335-339
    • Knight, S.W.1    Heiss, N.S.2    Vulliamy, T.J.3    Aalfs, C.M.4    Hennekman, R.C.M.5    Mason, P.J.6    Dokal, I.7
  • 22
    • 0034775749 scopus 로고    scopus 로고
    • N-terminal domains of the human telomerase catalytic subunit required for enzyme activity in vivo
    • B.N. Armbruster, S.S. Banik, C. Guo, A.C. Smith, and C.M. Counter N-terminal domains of the human telomerase catalytic subunit required for enzyme activity in vivo Mol. Cell. Biol. 21 2001 7775 7786
    • (2001) Mol. Cell. Biol. , vol.21 , pp. 7775-7786
    • Armbruster, B.N.1    Banik, S.S.2    Guo, C.3    Smith, A.C.4    Counter, C.M.5
  • 24
    • 0037313185 scopus 로고    scopus 로고
    • Extensive allelic variation and ultrashort telomeres in senescent human cells
    • D.M. Baird, J. Rowson, D. Wynford-Thomas, and D. Kipling Extensive allelic variation and ultrashort telomeres in senescent human cells Nat. Genet. 33 2003 203 207
    • (2003) Nat. Genet. , vol.33 , pp. 203-207
    • Baird, D.M.1    Rowson, J.2    Wynford-Thomas, D.3    Kipling, D.4
  • 27
    • 0242286004 scopus 로고    scopus 로고
    • The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity
    • S. Huard, T.J. Moriarty, and C. Autexier The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity Nucleic Acids Res. 15 2003 4059 4070
    • (2003) Nucleic Acids Res. , vol.15 , pp. 4059-4070
    • Huard, S.1    Moriarty, T.J.2    Autexier, C.3
  • 28
    • 0033568462 scopus 로고    scopus 로고
    • Telomere shortening and apoptosis in telomerase-inhibited human tumor cells
    • X. Zhang, V. Mar, W. Zhou, L. Harrington, and M.O. Robinson Telomere shortening and apoptosis in telomerase-inhibited human tumor cells Genes Dev. 13 1999 2388 2399
    • (1999) Genes Dev. , vol.13 , pp. 2388-2399
    • Zhang, X.1    Mar, V.2    Zhou, W.3    Harrington, L.4    Robinson, M.O.5
  • 31
    • 0038392866 scopus 로고    scopus 로고
    • Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs
    • D. Fu, and K. Collins Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs Mol. Cell 11 2003 1361 1372
    • (2003) Mol. Cell , vol.11 , pp. 1361-1372
    • Fu, D.1    Collins, K.2
  • 32
    • 0141557781 scopus 로고    scopus 로고
    • Comprehensive structure-function analysis of the core domain of human telomerase RNA
    • H. Ly, E. Blackburn, and T. Parslow Comprehensive structure-function analysis of the core domain of human telomerase RNA Mol. Cell. Biol. 23 2003 6849 6856
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 6849-6856
    • Ly, H.1    Blackburn, E.2    Parslow, T.3
  • 33
    • 10244222239 scopus 로고    scopus 로고
    • The effect on telomerase activity of telomerase RNA (TERC) mutations found in dyskeratosis congenita and aplastic anemia
    • A. Marrone, D. Stevens, T. Vulliamy, I. Dokal, and P.J. Mason The effect on telomerase activity of telomerase RNA (TERC) mutations found in dyskeratosis congenita and aplastic anemia Blood 104 2004 3936 3942
    • (2004) Blood , vol.104 , pp. 3936-3942
    • Marrone, A.1    Stevens, D.2    Vulliamy, T.3    Dokal, I.4    Mason, P.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.