메뉴 건너뛰기




Volumn 2, Issue 6, 2009, Pages 528-543

Telomere dysfunction in human diseases: The long and short of it!

Author keywords

Aplastic anemia; Dyskeratosis congenita; Idiopathic pulmonary fibrosis; Telomerase; Telomere

Indexed keywords


EID: 67650264860     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (26)

References (117)
  • 1
    • 0015844590 scopus 로고
    • A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon
    • Olovnikov AM. A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon. J Theor Biol 1973;41:181-190.
    • (1973) J Theor Biol , vol.41 , pp. 181-190
    • Olovnikov, A.M.1
  • 2
    • 0015515155 scopus 로고
    • Origin of concatemeric T7 DNA
    • Watson JD. Origin of concatemeric T7 DNA. Nat New Biol 1972;239:197-201.
    • (1972) Nat New Biol , vol.239 , pp. 197-201
    • Watson, J.D.1
  • 3
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley CB, Futcher AB and Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature 1990;345:458-460.
    • (1990) Nature , vol.345 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 6
    • 50549218525 scopus 로고
    • The Limited in Vitro Lifetime of Human Diploid Cell Strains
    • Hayflick L. The Limited in Vitro Lifetime of Human Diploid Cell Strains. Exp Cell Res 1965;37:614-636.
    • (1965) Exp Cell Res , vol.37 , pp. 614-636
    • Hayflick, L.1
  • 7
    • 33745849998 scopus 로고    scopus 로고
    • The Structure and Function of Telomerase Reverse Transcriptase
    • Autexier C and Lue NF. The Structure and Function of Telomerase Reverse Transcriptase. Ann Rev Biochem 2006;75: 493-517.
    • (2006) Ann Rev Biochem , vol.75 , pp. 493-517
    • Autexier, C.1    Lue, N.F.2
  • 8
    • 1842813934 scopus 로고    scopus 로고
    • Telomerase RNA structure and function: Implications for dyskeratosis congenita
    • Chen JL and Greider CW. Telomerase RNA structure and function: implications for dyskeratosis congenita. Trends Biochem Sci 2004;29:183-192.
    • (2004) Trends Biochem Sci , vol.29 , pp. 183-192
    • Chen, J.L.1    Greider, C.W.2
  • 9
    • 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.
    • (2005) Genes Dev , vol.19 , pp. 2100-2110
    • de Lange, T.1
  • 10
    • 41149087836 scopus 로고    scopus 로고
    • Inherited aplastic anaemias/bone marrow failure syndromes
    • Dokal I and Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Reviews 2008;22:141-153.
    • (2008) Blood Reviews , vol.22 , pp. 141-153
    • Dokal, I.1    Vulliamy, T.2
  • 15
    • 38949103402 scopus 로고    scopus 로고
    • u H-Y, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ and Bessler M. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 2008;111:1128-1130.
    • u H-Y, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ and Bessler M. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 2008;111:1128-1130.
  • 17
    • 38849168568 scopus 로고    scopus 로고
    • 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 and Dokal I. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 2007; 110:4198-4205.
    • (2007) Blood , vol.110 , pp. 4198-4205
    • Marrone, A.1    Walne, A.2    Tamary, H.3    Masunari, Y.4    Kirwan, M.5    Beswick, R.6    Vulliamy, T.7    Dokal, I.8
  • 20
    • 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 and Dokal I. 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    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 21
    • 18844421369 scopus 로고    scopus 로고
    • 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 and Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2005;34: 257-263.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 257-263
    • Vulliamy, T.J.1    Walne, A.2    Baskaradas, A.3    Mason, P.J.4    Marrone, A.5    Dokal, I.6
  • 25
    • 25444519237 scopus 로고    scopus 로고
    • Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation
    • Cerone M, Ward R, Londoño-Vallejo J and Autexier C. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle 2005;4:585-589.
    • (2005) Cell Cycle , vol.4 , pp. 585-589
    • Cerone, M.1    Ward, R.2    Londoño-Vallejo, J.3    Autexier, C.4
  • 26
    • 33646132760 scopus 로고    scopus 로고
    • Absence of pathogenic mutations of the human telomerase RNA gene (hTERC) in patients with chronic myeloproliferative disorders
    • Danzy S, Su CY, Park S, Li SY, Ferraris AM and Ly H. Absence of pathogenic mutations of the human telomerase RNA gene (hTERC) in patients with chronic myeloproliferative disorders. Leukemia 2006;20:893-894.
    • (2006) Leukemia , vol.20 , pp. 893-894
    • Danzy, S.1    Su, C.Y.2    Park, S.3    Li, S.Y.4    Ferraris, A.M.5    Ly, H.6
  • 28
    • 0038392866 scopus 로고    scopus 로고
    • Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs
    • Fu D and Collins K. Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol Cell 2003; 11: 1361-1372.
    • (2003) Mol Cell , vol.11 , pp. 1361-1372
    • Fu, D.1    Collins, K.2
  • 29
    • 15244358401 scopus 로고    scopus 로고
    • Functional characterization of telomerase RNA variants found in patients with hematological disorders
    • Ly H, Calado RT, Allard P, Baerlocher GM, Lansdorp PM, Young NS and Parslow TG. Functional characterization of telomerase RNA variants found in patients with hematological disorders. Blood 2005;105: 2332-2339.
    • (2005) Blood , vol.105 , pp. 2332-2339
    • Ly, H.1    Calado, R.T.2    Allard, P.3    Baerlocher, G.M.4    Lansdorp, P.M.5    Young, N.S.6    Parslow, T.G.7
  • 30
    • 23744511264 scopus 로고    scopus 로고
    • 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 and Lansdorp PM. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Blood 2005;106:1246-1252.
    • (2005) Blood , vol.106 , pp. 1246-1252
    • Ly, H.1    Schertzer, M.2    Jastaniah, W.3    Davis, J.4    Yong, S.L.5    Ouyang, Q.6    Blackburn, E.H.7    Parslow, T.G.8    Lansdorp, P.M.9
  • 32
    • 10244222239 scopus 로고    scopus 로고
    • Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
    • Marrone A, Stevens D, Vulliamy T, Dokal I and Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004; 104:3936-3942.
    • (2004) Blood , vol.104 , pp. 3936-3942
    • Marrone, A.1    Stevens, D.2    Vulliamy, T.3    Dokal, I.4    Mason, P.J.5
  • 34
    • 0344874270 scopus 로고    scopus 로고
    • YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA
    • Theimer CA, Finger LD and Feigon J. YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. RNA 2003;9:1446-1455.
    • (2003) RNA , vol.9 , pp. 1446-1455
    • Theimer, C.A.1    Finger, L.D.2    Feigon, J.3
  • 35
    • 0037457985 scopus 로고    scopus 로고
    • Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA
    • Theimer CA, Finger LD, Trantirek L and Feigon J. Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. Proc Natl Acad Sci USA 2003;100:449-454.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 449-454
    • Theimer, C.A.1    Finger, L.D.2    Trantirek, L.3    Feigon, J.4
  • 36
    • 0037157582 scopus 로고    scopus 로고
    • Association between aplastic anaemia and mutations in telomerase RNA
    • Vulliamy T, Marrone A, Dokal I and Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.
    • (2002) Lancet , vol.359 , pp. 2168-2170
    • Vulliamy, T.1    Marrone, A.2    Dokal, I.3    Mason, P.J.4
  • 37
  • 38
    • 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 and Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004;36:447-449.
    • (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
  • 44
    • 4143074874 scopus 로고    scopus 로고
    • Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita
    • Ding Y, Zhu T, Jiang W, Yang Y, Bu D, Tu P, Zhu X and Wang B. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. J Invest Dermatol 2004;123:470-473.
    • (2004) J Invest Dermatol , vol.123 , pp. 470-473
    • Ding, Y.1    Zhu, T.2    Jiang, W.3    Yang, Y.4    Bu, D.5    Tu, P.6    Zhu, X.7    Wang, B.8
  • 50
    • 0035002944 scopus 로고    scopus 로고
    • Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis
    • Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ and Dokal I. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 2001;108:299-303.
    • (2001) Hum Genet , vol.108 , pp. 299-303
    • Knight, S.W.1    Vulliamy, T.J.2    Morgan, B.3    Devriendt, K.4    Mason, P.J.5    Dokal, I.6
  • 51
    • 4544234698 scopus 로고    scopus 로고
    • Missense mutation in a patient with X-linked dyskeratosis congenita
    • Kraemer DM and Goebeler M. Missense mutation in a patient with X-linked dyskeratosis congenita. Haematologica 2003;88:ECR11-.
    • (2003) Haematologica , vol.88
    • Kraemer, D.M.1    Goebeler, M.2
  • 52
    • 0036865917 scopus 로고    scopus 로고
    • DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita
    • Lin JH, Lee JY, Tsao CJ and Chao SC. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. Kaohsiung J Med Sci 2002;18:573-577.
    • (2002) Kaohsiung J Med Sci , vol.18 , pp. 573-577
    • Lin, J.H.1    Lee, J.Y.2    Tsao, C.J.3    Chao, S.C.4
  • 53
    • 0037178265 scopus 로고    scopus 로고
    • Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity
    • Salowsky R, Heiss N, Benner A, Wittig R and Poustka A. Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. Gene 2002;293:9-19.
    • (2002) Gene , vol.293 , pp. 9-19
    • Salowsky, R.1    Heiss, N.2    Benner, A.3    Wittig, R.4    Poustka, A.5
  • 55
    • 0033566881 scopus 로고    scopus 로고
    • Dyskeratosis congenita caused by a 3′ deletion: Germline and somatic mosaicism in a female carrier
    • Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I and Mason PJ. Dyskeratosis congenita caused by a 3′ deletion: germline and somatic mosaicism in a female carrier. Blood 1999;94:1254-1260.
    • (1999) Blood , vol.94 , pp. 1254-1260
    • Vulliamy, T.J.1    Knight, S.W.2    Heiss, N.S.3    Smith, O.P.4    Poustka, A.5    Dokal, I.6    Mason, P.J.7
  • 58
    • 34447307404 scopus 로고    scopus 로고
    • 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 and Dokal I. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 2007;16:1619-1629.
    • (2007) Hum Mol Genet , vol.16 , pp. 1619-1629
    • Walne, A.J.1    Vulliamy, T.2    Marrone, A.3    Beswick, R.4    Kirwan, M.5    Masunari, Y.6    Al-Qurashi, F.H.7    Aljurf, M.8    Dokal, I.9
  • 60
    • 33646493509 scopus 로고    scopus 로고
    • Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia
    • Savage SA, Calado RT, Xin ZT, Ly H, Young NS and Chanock SJ. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol 2006;34:664-671.
    • (2006) Exp Hematol , vol.34 , pp. 664-671
    • Savage, S.A.1    Calado, R.T.2    Xin, Z.T.3    Ly, H.4    Young, N.S.5    Chanock, S.J.6
  • 61
    • 40749085700 scopus 로고    scopus 로고
    • TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
    • Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM and Alter BP. 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    Orr, N.4    Lansdorp, P.M.5    Alter, B.P.6
  • 62
    • 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, Kirwan M and Dokal I. 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    Kirwan, M.4    Dokal, I.5
  • 65
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-779.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 68
    • 58849153303 scopus 로고    scopus 로고
    • Du H-Y, 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 and Bessler M. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113:309-316.
    • Du H-Y, 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 and Bessler M. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113:309-316.
  • 69
    • 19444383162 scopus 로고    scopus 로고
    • Dyskeratosis congenita: Telomerase, telomeres and anticipation
    • Marrone A, Walne A and Dokal I. Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev 2005;15: 249-257.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 249-257
    • Marrone, A.1    Walne, A.2    Dokal, I.3
  • 70
    • 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 and Mason PJ. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 2002; 21: 7740-7744.
    • (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    Mason, P.J.7
  • 71
    • 0023731072 scopus 로고
    • A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
    • Hreidarsson S, Kristjansson K, Johannesson G and Johannsson JH. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988; 77:773-775.
    • (1988) Acta Paediatr Scand , vol.77 , pp. 773-775
    • Hreidarsson, S.1    Kristjansson, K.2    Johannesson, G.3    Johannsson, J.H.4
  • 72
    • 0028812654 scopus 로고
    • The Hoyeraal-Hreidarsson syndrome: Don't forget the associated immunodeficiency
    • Berthet F, Tuchschmid P, Boltshauser E and Seger RA. The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. Eur J Pediatr 1995;154: 998.
    • (1995) Eur J Pediatr , vol.154 , pp. 998
    • Berthet, F.1    Tuchschmid, P.2    Boltshauser, E.3    Seger, R.A.4
  • 73
    • 53549114805 scopus 로고    scopus 로고
    • Disease-Associated Human Telomerase RNA Variants Show Loss of Function for Telomere Synthesis without Dominant-Negative Interference
    • Errington TM, Fu D, Wong JMY and Collins K. Disease-Associated Human Telomerase RNA Variants Show Loss of Function for Telomere Synthesis without Dominant-Negative Interference. Mol Cell Biol 2008;28:6510-6520.
    • (2008) Mol Cell Biol , vol.28 , pp. 6510-6520
    • Errington, T.M.1    Fu, D.2    Wong, J.M.Y.3    Collins, K.4
  • 74
    • 0028035115 scopus 로고
    • Heritable trinuclotide repeats and neurological disorders
    • Shastry BS. Heritable trinuclotide repeats and neurological disorders. Experientia 1994;50: 1099-1105.
    • (1994) Experientia , vol.50 , pp. 1099-1105
    • Shastry, B.S.1
  • 76
    • 0033153424 scopus 로고    scopus 로고
    • Disease states associated with telomerase deficiency appear earlier in mice with short telomeres
    • Herrera E, Samper E, Martin-Caballero J, Flores JM, Lee HW and Blasco MA. Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. EMBO J 1999;18:2950-2960.
    • (1999) EMBO J , vol.18 , pp. 2950-2960
    • Herrera, E.1    Samper, E.2    Martin-Caballero, J.3    Flores, J.M.4    Lee, H.W.5    Blasco, M.A.6
  • 79
    • 0037006957 scopus 로고    scopus 로고
    • Acquired aplastic anemia
    • Young NS. Acquired aplastic anemia. Ann Intern Med 2002;136:534-546.
    • (2002) Ann Intern Med , vol.136 , pp. 534-546
    • Young, N.S.1
  • 81
    • 33751267902 scopus 로고    scopus 로고
    • Acute myeloid leukaemia
    • Estey E and Döhner H. Acute myeloid leukaemia. Lancet 2006;368:1894-1907.
    • (2006) Lancet , vol.368 , pp. 1894-1907
    • Estey, E.1    Döhner, H.2
  • 82
    • 33750628439 scopus 로고    scopus 로고
    • Current concepts in the pathophysiology and treatment of aplastic anemia
    • Young NS, Calado RT and Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood 2006; 108:2509-2519.
    • (2006) Blood , vol.108 , pp. 2509-2519
    • Young, N.S.1    Calado, R.T.2    Scheinberg, P.3
  • 83
    • 0034788057 scopus 로고    scopus 로고
    • Paroxysmal nocturnal hemoglobinuria: Insights from recent advances in molecular biology
    • Bessler M, Schaefer A and Keller P. Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology. Transfus Med Rev 2001;15:255-267.
    • (2001) Transfus Med Rev , vol.15 , pp. 255-267
    • Bessler, M.1    Schaefer, A.2    Keller, P.3
  • 84
    • 0036463495 scopus 로고    scopus 로고
    • Relationship between aplastic anemia and paroxysmal nocturnal hemoglobinuria
    • Kinoshita T and Inoue N. Relationship between aplastic anemia and paroxysmal nocturnal hemoglobinuria. Int J Hematol 2002; 75:117-122.
    • (2002) Int J Hematol , vol.75 , pp. 117-122
    • Kinoshita, T.1    Inoue, N.2
  • 86
    • 33744457651 scopus 로고    scopus 로고
    • Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia
    • Schafer AI. Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia. Blood 2006; 107: 4214-4222.
    • (2006) Blood , vol.107 , pp. 4214-4222
    • Schafer, A.I.1
  • 91
    • 0035899275 scopus 로고    scopus 로고
    • Idiopathic Pulmonary Fibrosis
    • Gross TJ and Hunninghake GW. Idiopathic Pulmonary Fibrosis. N Engl J Med 2001;345: 517-525.
    • (2001) N Engl J Med , vol.345 , pp. 517-525
    • Gross, T.J.1    Hunninghake, G.W.2
  • 95
    • 48249112529 scopus 로고    scopus 로고
    • A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
    • Gu B-W, Bessler M and Mason PJ. A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc Natl Acad Sci USA 2008;105: 10173-10178.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 10173-10178
    • Gu, B.-W.1    Bessler, M.2    Mason, P.J.3
  • 97
    • 33646543044 scopus 로고    scopus 로고
    • Impaired Control of IRES-Mediated Translation in X-Linked Dyskeratosis Congenita
    • Yoon A, Peng G, Brandenburg Y, Zollo O, Xu W, Rego E and Ruggero D. Impaired Control of IRES-Mediated Translation in X-Linked Dyskeratosis Congenita. Science 2006;312: 902-906.
    • (2006) Science , vol.312 , pp. 902-906
    • Yoon, A.1    Peng, G.2    Brandenburg, Y.3    Zollo, O.4    Xu, W.5    Rego, E.6    Ruggero, D.7
  • 98
    • 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 and 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;101:10756-10761.
    • (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
  • 101
    • 1942437469 scopus 로고    scopus 로고
    • Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice
    • Erdmann N, Liu Y and Harrington L. Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice. Proc Natl Acad Sci USA 2004;101:6080-6085.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 6080-6085
    • Erdmann, N.1    Liu, Y.2    Harrington, L.3
  • 103
  • 104
    • 36749002168 scopus 로고    scopus 로고
    • Telomere uncapping in progenitor cells with critical telomere shortening is coupled to S-phase progression in vivo
    • Rajaraman S, Choi J, Cheung P, Beaudry V, Moore H and Artandi SE. Telomere uncapping in progenitor cells with critical telomere shortening is coupled to S-phase progression in vivo. Proc Natl Acad Sci USA 2007;104: 17747-17752.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 17747-17752
    • Rajaraman, S.1    Choi, J.2    Cheung, P.3    Beaudry, V.4    Moore, H.5    Artandi, S.E.6
  • 105
    • 48949085109 scopus 로고    scopus 로고
    • The many faces of telomerase: Emerging extratelomeric effects
    • Bollmann FM. The many faces of telomerase: emerging extratelomeric effects. BioEssays 2008; 30: 728-732.
    • (2008) BioEssays , vol.30 , pp. 728-732
    • Bollmann, F.M.1
  • 108
    • 3242709415 scopus 로고    scopus 로고
    • Telomere-Associated Protein TIN2 Is Essential for Early Embryonic Development through a Telomerase-Independent Pathway
    • Chiang YJ, Kim S-H, Tessarollo L, Campisi J and Hodes RJ. Telomere-Associated Protein TIN2 Is Essential for Early Embryonic Development through a Telomerase-Independent Pathway. Mol Cell Biol 2004; 24:6631-6634.
    • (2004) Mol Cell Biol , vol.24 , pp. 6631-6634
    • Chiang, Y.J.1    Kim, S.-H.2    Tessarollo, L.3    Campisi, J.4    Hodes, R.J.5
  • 110
    • 22144490491 scopus 로고    scopus 로고
    • DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion
    • Celli GB and de Lange T. DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion. Nat Cell Biol 2005;7:712-718.
    • (2005) Nat Cell Biol , vol.7 , pp. 712-718
    • Celli, G.B.1    de Lange, T.2
  • 111
    • 58149467017 scopus 로고    scopus 로고
    • Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita
    • He H, Wang Y, Guo X, Ramchandani S, Ma J, Shen M-F, Garcia DA, Deng Y, Multani AS, You MJ and Chang S. Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. Mol Cell Biol 2009; 29:229-240.
    • (2009) Mol Cell Biol , vol.29 , pp. 229-240
    • He, H.1    Wang, Y.2    Guo, X.3    Ramchandani, S.4    Ma, J.5    Shen, M.-F.6    Garcia, D.A.7    Deng, Y.8    Multani, A.S.9    You, M.J.10    Chang, S.11
  • 112
    • 33745685066 scopus 로고    scopus 로고
    • Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres
    • Hockemeyer D, Daniels J-P, Takai H and de Lange T. Recent expansion of the telomeric complex in rodents: two distinct POT1 proteins protect mouse telomeres. Cell 2006; 126:63-77.
    • (2006) Cell , vol.126 , pp. 63-77
    • Hockemeyer, D.1    Daniels, J.-P.2    Takai, H.3    de Lange, T.4
  • 113
    • 46249089163 scopus 로고    scopus 로고
    • Engineered telomere degradation models dyskeratosis congenita
    • Hockemeyer D, Palm W, Wang RC, Couto SS and de Lange T. Engineered telomere degradation models dyskeratosis congenita. Genes Dev 2008;22:1773-1785.
    • (2008) Genes Dev , vol.22 , pp. 1773-1785
    • Hockemeyer, D.1    Palm, W.2    Wang, R.C.3    Couto, S.S.4    de Lange, T.5
  • 115
    • 0000605996 scopus 로고
    • Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris
    • Zinsser F. Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris. Ikonogr Dermatol (Hyoto) 1906;5:219-223.
    • (1906) Ikonogr Dermatol (Hyoto) , vol.5 , pp. 219-223
    • Zinsser, F.1
  • 116
    • 0022402513 scopus 로고
    • Identification of a specific telomere terminal transferase activity in tetrahymena extracts
    • Greider CW and Blackburn EH. Identification of a specific telomere terminal transferase activity in tetrahymena extracts. Cell 1985; 43:405-413.
    • (1985) Cell , vol.43 , pp. 405-413
    • Greider, C.W.1    Blackburn, E.H.2
  • 117
    • 33644874124 scopus 로고    scopus 로고
    • Animal models for acquired bone marrow failure syndromes
    • Chen J. Animal models for acquired bone marrow failure syndromes. Clin Med Res 2005;3:102-108.
    • (2005) Clin Med Res , vol.3 , pp. 102-108
    • Chen, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.