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Volumn 92, Issue 8, 2007, Pages 1009-1012

Dysfunctional telomeres and dyskeratosis congenita

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE BETA; DYSKERIN; RIBONUCLEOPROTEIN; TELOMERASE; CELL CYCLE PROTEIN; DKC1 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA; TELOMERASE RNA; TERT PROTEIN, HUMAN; UNCLASSIFIED DRUG;

EID: 35748940022     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11221     Document Type: Editorial
Times cited : (20)

References (33)
  • 1
    • 0025731583 scopus 로고
    • Structure and function of telomeres
    • Blackburn EH. Structure and function of telomeres. Nature 1991;350:569-73.
    • (1991) Nature , vol.350 , pp. 569-573
    • Blackburn, E.H.1
  • 2
    • 0037148277 scopus 로고    scopus 로고
    • Protection of mammalian telomeres
    • de Lange T. Protection of mammalian telomeres. Oncogene 2002;21:532-40.
    • (2002) Oncogene , vol.21 , pp. 532-540
    • de Lange, T.1
  • 3
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley CB, Futcher AB, Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature 1990;345:458-60.
    • (1990) Nature , vol.345 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 4
  • 6
    • 0022402513 scopus 로고
    • Identification of a specific telomere terminal transferase activity in Tetrahymena extracts
    • Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985;43:405-13.
    • (1985) Cell , vol.43 , pp. 405-413
    • Greider, C.W.1    Blackburn, E.H.2
  • 10
    • 0345643319 scopus 로고    scopus 로고
    • Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood
    • Rufer N, Brummendorf TH, Kolvraa S, Bischoff C, Christensen K, Wadsworth L, et al. Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood. J Exp Med 1999; 190:157-67.
    • (1999) J Exp Med , vol.190 , pp. 157-167
    • Rufer, N.1    Brummendorf, T.H.2    Kolvraa, S.3    Bischoff, C.4    Christensen, K.5    Wadsworth, L.6
  • 11
    • 0032961170 scopus 로고    scopus 로고
    • A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end
    • Mitchell JR, Cheng J, Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol Cell Biol 1999;19:567-76.
    • (1999) Mol Cell Biol , vol.19 , pp. 567-576
    • Mitchell, J.R.1    Cheng, J.2    Collins, K.3
  • 12
    • 0034192063 scopus 로고    scopus 로고
    • Dyskeratosis congenita, telomeres and human ageing
    • Marciniak RA, Johnson FB, Guarente L. Dyskeratosis congenita, telomeres and human ageing. Trends Genet 2000;16:193-5.
    • (2000) Trends Genet , vol.16 , pp. 193-195
    • Marciniak, R.A.1    Johnson, F.B.2    Guarente, L.3
  • 13
    • 0034966374 scopus 로고    scopus 로고
    • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    • Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001;27:353-7.
    • (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
    • 0002924576 scopus 로고
    • Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris
    • Cole H, Rauschkolb J, Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Derm Syph Suppl 1930;21:71-95.
    • (1930) Arch Derm Syph Suppl , vol.21 , pp. 71-95
    • Cole, H.1    Rauschkolb, J.2    Toomey, J.3
  • 15
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000;110:768-79.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 17
    • 0030866294 scopus 로고    scopus 로고
    • Skewed X-inactivation in carriers of X-linked dyskeratosis congenita
    • Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 1997;90:2213-6.
    • (1997) Blood , vol.90 , pp. 2213-2216
    • Vulliamy, T.J.1    Knight, S.W.2    Dokal, I.3    Mason, P.J.4
  • 18
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999;402:551-5.
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 19
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
    • Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680-5.
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 20
    • 19444374397 scopus 로고    scopus 로고
    • The many facets of H/ACA ribonucleoproteins
    • Meier UT. The many facets of H/ACA ribonucleoproteins. Chromosoma 2005;114:1-14.
    • (2005) Chromosoma , vol.114 , pp. 1-14
    • Meier, U.T.1
  • 21
    • 0037206947 scopus 로고    scopus 로고
    • Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
    • He J, Navarrete S, Jasinski M, Vulliamy T, Dokal I, Bessler M, et al. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 2002; 21:7740-4.
    • (2002) Oncogene , vol.21 , pp. 7740-7744
    • He, J.1    Navarrete, S.2    Jasinski, M.3    Vulliamy, T.4    Dokal, I.5    Bessler, M.6
  • 22
    • 3242656131 scopus 로고    scopus 로고
    • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
    • Mochizuki Y, He J, Kulkarni S, Bessler M, Mason PJ. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci USA 2004;101:10756-61.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10756-10761
    • Mochizuki, Y.1    He, J.2    Kulkarni, S.3    Bessler, M.4    Mason, P.J.5
  • 23
    • 33751072682 scopus 로고    scopus 로고
    • Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita
    • Wong JM, Collins K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev 2006;20:2848-58.
    • (2006) Genes Dev , vol.20 , pp. 2848-2858
    • Wong, J.M.1    Collins, K.2
  • 24
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
    • (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
  • 28
    • 2442617343 scopus 로고    scopus 로고
    • 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. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004;36:447-9.
    • (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
  • 30
    • 0030931491 scopus 로고    scopus 로고
    • Telomere shortening and tumor formation by mouse cells lacking telomerase RNA
    • Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA, et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 1997; 91:25-34.
    • (1997) Cell , vol.91 , pp. 25-34
    • Blasco, M.A.1    Lee, H.W.2    Hande, M.P.3    Samper, E.4    Lansdorp, P.M.5    DePinho, R.A.6
  • 31
    • 17844373798 scopus 로고    scopus 로고
    • The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo
    • Liu Y, Snow BE, Hande MP, Yeung D, Erdmann NJ, Wakeham A, et al. The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo. Curr Biol 2000;10:1459-62.
    • (2000) Curr Biol , vol.10 , pp. 1459-1462
    • Liu, Y.1    Snow, B.E.2    Hande, M.P.3    Yeung, D.4    Erdmann, N.J.5    Wakeham, A.6
  • 32
    • 27644574342 scopus 로고    scopus 로고
    • 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, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005;102:15960-4.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15960-15964
    • Armanios, M.1    Chen, J.L.2    Chang, Y.P.3    Brodsky, R.A.4    Hawkins, A.5    Griffin, C.A.6
  • 33
    • 35648999925 scopus 로고    scopus 로고
    • Functional characterization of novel telomerase RNA (TERC) gene mutations in patients with diverse clinical and pathological presentations
    • Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, et al. Functional characterization of novel telomerase RNA (TERC) gene mutations in patients with diverse clinical and pathological presentations. Haematologica 2007;92:1013-20.
    • (2007) Haematologica , vol.92 , pp. 1013-1020
    • Marrone, A.1    Sokhal, P.2    Walne, A.3    Beswick, R.4    Kirwan, M.5    Killick, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.