Telomeres and human disease: ageing, cancer and beyond
10.1038/nrg1656
Crossref journal-article
Springer Science and Business Media LLC
Nature Reviews Genetics (297)
Bibliography

Blasco, M. A. (2005). Telomeres and human disease: ageing, cancer and beyond. Nature Reviews Genetics, 6(8), 611–622.

Authors 1
  1. Maria A. Blasco (first)
References 110 Referenced 1,305
  1. De Lange, T. Protection of mammalian telomeres. Oncogene 21, 532–540 (2002). (10.1038/sj.onc.1205080) / Oncogene by T De Lange (2002)
  2. Blackburn, E. H. Switching and signaling at the telomere. Cell 106, 661–673 (2001). (10.1016/S0092-8674(01)00492-5) / Cell by EH Blackburn (2001)
  3. Collins, K. & Mitchell, J. R. Telomerase in the human organism. Oncogene 21, 564–579 (2002). (10.1038/sj.onc.1205083) / Oncogene by K Collins (2002)
  4. Griffith, J. D. et al. Mammalian telomeres end in a large duplex loop. Cell 97, 503–514 (1999). (10.1016/S0092-8674(00)80760-6) / Cell by JD Griffith (1999)
  5. Nikitina, T. & Woodcock, C. L. Chromatin loops at the ends of chromosomes. J. Cell Biol. 166, 161–165 (2004). (10.1083/jcb.200403118) / J. Cell Biol. by T Nikitina (2004)
  6. De Lange, T. T-loops and the origin of telomeres. Nature Rev. Mol. Cell Biol. 5, 323–329 (2004). A must-read review on the origins of telomeres and the formation of telomeric loops (T loops). A clear connection between T-loop formation and homologous recombination mechanisms is proposed. (10.1038/nrm1359) / Nature Rev. Mol. Cell Biol. by T De Lange (2004)
  7. Tommerup, H., Dousmanis, A. & de Lange, T. Unusual chromatin in human telomeres. Mol. Cell. Biol. 14, 5777–5785 (1994). (10.1128/MCB.14.9.5777) / Mol. Cell. Biol. by H Tommerup (1994)
  8. Garcia Cao, M. et al. Epigenetic regulation of telomere length in mammalian cells by the Suv39h1 and Suv39h2 histone methyltransferases. Nature Genet. 36, 94–99 (2004). This paper showed that mammalian telomeres contain the main marks of constitutive heterochromatin and that epigenetic modifications represent a higher-order telomere-length control mechanism in mammals. (10.1038/ng1278) / Nature Genet. by M Garcia Cao (2004)
  9. Gonzalo, S. et al. Role of the RB1 family in stabilizing histone methylation at constitutive heterochromatin. Nature Cell Biol. 7, 420–428 (2005). (10.1038/ncb1235) / Nature Cell Biol. by S Gonzalo (2005)
  10. Peters, A. H. et al. Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability. Cell 107, 323–337 (2001). (10.1016/S0092-8674(01)00542-6) / Cell by AH Peters (2001)
  11. Schotta, G. et al. A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. Genes Dev. 8, 1251–1262 (2004). (10.1101/gad.300704) / Genes Dev. by G Schotta (2004)
  12. Garcia-Cao, M., Gonzalo, S., Dean, D. & Blasco, M. A. A role for the Rb family of proteins in controlling telomere length. Nature Genet. 32, 415–419 (2002). (10.1038/ng1011) / Nature Genet. by M Garcia-Cao (2002)
  13. Perrod, S. & Gasser, S. M. Long-range silencing and position effects at telomeres and centromeres: parallels and differences. Cell. Mol. Life Sci. 60, 2303–2318 (2003). (10.1007/s00018-003-3246-x) / Cell. Mol. Life Sci. by S Perrod (2003)
  14. Baur, J. A., Zou, Y., Shay, J. W. & Wright, W. E. Telomere position effect in human cells. Science 292, 2075–2077 (2001). The authors provide conclusive evidence that telomere position effect (the silencing of genes near the telomeres) operates in mammalian cells. (10.1126/science.1062329) / Science by JA Baur (2001)
  15. Koering, C. E. et al. Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep. 3, 1055–1061 (2002). (10.1093/embo-reports/kvf215) / EMBO Rep. by CE Koering (2002)
  16. Shiels, P. G. et al. Analysis of telomere lengths in cloned sheep. Nature 399, 316–317 (1999). (10.1038/20580) / Nature by PG Shiels (1999)
  17. Lanza, R. P. et al. Extension of cell life-span and telomere length in animals cloned from senescent somatic cells. Science 288, 665–669 (2000). (10.1126/science.288.5466.665) / Science by RP Lanza (2000)
  18. Ahmad, K. & Henikoff, S. Epigenetic consequences of nucleosome dynamics. Cell 111, 281–284 (2002). (10.1016/S0092-8674(02)01081-4) / Cell by K Ahmad (2002)
  19. Smogorzewska, A. & de Lange, T. Regulation of telomerase by telomeric proteins. Annu. Rev. Biochem. 73, 177–208 (2004). (10.1146/annurev.biochem.73.071403.160049) / Annu. Rev. Biochem. by A Smogorzewska (2004)
  20. Karlseder, J. et al. Targeted deletion reveals an essential function for the telomere length regulator Trf1. Mol. Cell. Biol. 23, 6533–6541 (2003). (10.1128/MCB.23.18.6533-6541.2003) / Mol. Cell. Biol. by J Karlseder (2003)
  21. Dynek, J. N. & Smith, S. Resolution of sister telomere association is required for progression through mitosis. Science 304, 97–100 (2004). This paper provides evidence for the role of telomere-binding proteins in sister chromatid cohesion, therefore linking telomere function with cell division. (10.1126/science.1094754) / Science by JN Dynek (2004)
  22. Chiang, Y. J., Kim, S. H., Tessarollo, L., Campisi, J. & Hodes, R. J. Telomere-associated protein TIN2 is essential for early embryonic development through a telomerase-independent pathway. Mol. Cell. Biol. 15, 6631–6634 (2004). (10.1128/MCB.24.15.6631-6634.2004) / Mol. Cell. Biol. by YJ Chiang (2004)
  23. Kaminker, P. et al. Higher-order nuclear organization in growth arrest of human mammary epithelial cells: a novel role for telomere-associated protein TIN2. J. Cell Sci. 118, 1321–1330 (2005). (10.1242/jcs.01709) / J. Cell Sci. by P Kaminker (2005)
  24. Oh, B. K., Kim, Y. J., Park, C. & Park, Y. N. Up-regulation of telomere-binding proteins, TRF1, TRF2, and TIN2 is related to telomere shortening during human multistep hepatocarcinogenesis. Am. J. Pathol. 166, 73–80 (2005). Telomere repeat binding proteins are shown to be vastly upregulated in human cancer, which indicates that these proteins could have a role in promoting tumorigenesis. (10.1016/S0002-9440(10)62233-X) / Am. J. Pathol. by BK Oh (2005)
  25. Gelmini, S. et al. Tankyrase, a positive regulator of telomere elongation, is over expressed in human breast cancer. Cancer Lett. 216, 81–87 (2004). (10.1016/j.canlet.2004.05.010) / Cancer Lett. by S Gelmini (2004)
  26. Kondo, T. et al. Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma. Cancer Res. 64, 523–529 (2004). (10.1158/0008-5472.CAN-03-1196) / Cancer Res. by T Kondo (2004)
  27. Miyachi, K. et al. Correlation between telomerase activity and telomeric-repeat binding factors in gastric cancer. J. Exp. Clin. Cancer Res. 21, 269–275 (2002). / J. Exp. Clin. Cancer Res. by K Miyachi (2002)
  28. Matsutani, N. et al. Expression of telomeric repeat binding factor 1 and 2 and TRF1-interacting nuclear protein 2 in human gastric carcinomas. Int. J. Oncol. 19, 507–512 (2001). / Int. J. Oncol. by N Matsutani (2001)
  29. Zhu, X. D. et al. ERCC1/XPF removes the 3′ overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol. Cell 12, 1489–1498 (2003). (10.1016/S1097-2765(03)00478-7) / Mol. Cell by XD Zhu (2003)
  30. Dantzer, F. et al. Functional interaction between poly(ADP-ribose) polymerase 2 (PARP-2) and TRF2: PARP activity negatively regulates TRF2. Mol. Cell. Biol. 24, 1595–1607 (2004). (10.1128/MCB.24.4.1595-1607.2004) / Mol. Cell. Biol. by F Dantzer (2004)
  31. Opresko, P. L. et al. The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2. Mol. Cell 14, 763–774 (2004). (10.1016/j.molcel.2004.05.023) / Mol. Cell by PL Opresko (2004)
  32. Samper, E et al. Mammalian Ku86 protein prevents telomeric fusions independently of the length of TTAGGG repeats and the G-strand overhang. EMBO Rep. 1, 244–252 (2000). (10.1093/embo-reports/kvd051) / EMBO Rep. by E Samper (2000)
  33. Goytisolo, F. A. et al. The absence of the DNA-dependent protein kinase catalytic subunit in mice results in anaphase bridges and in increased telomeric fusions with normal telomere length and G-strand overhang. Mol. Cell. Biol. 21, 3642–3651 (2001). (10.1128/MCB.21.11.3642-3651.2001) / Mol. Cell. Biol. by FA Goytisolo (2001)
  34. Tarsounas, M. et al. Telomere maintenance requires the RAD51D recombination/repair protein. Cell 117, 337–347 (2004). (10.1016/S0092-8674(04)00337-X) / Cell by M Tarsounas (2004)
  35. Jaco, I. et al. Role of mammalian Rad54 in telomere length maintenance. Mol. Cell. Biol. 23, 5572–5580 (2003). (10.1128/MCB.23.16.5572-5580.2003) / Mol. Cell. Biol. by I Jaco (2003)
  36. Wang, R. C., Smogorzewska, A. & de Lange, T. Homologous recombination generates T-loop-sized deletions at human telomeres. Cell 119, 355–368 (2004). References 34–36 show a clear involvement of homologous recombination activities in telomere integrity and telomere length regulation. (10.1016/j.cell.2004.10.011) / Cell by RC Wang (2004)
  37. Bailey, S. M. et al. Strand-specific postreplicative processing of mammalian telomeres. Science 293, 2462–2465 (2001). (10.1126/science.1062560) / Science by SM Bailey (2001)
  38. Crabbe, L., Verdun, R. E., Haggblom, C. I. & Karlseder, J. Defective telomere lagging strand synthesis in cells lacking WRN helicase activity. Science 306, 1951–1953 (2004). (10.1126/science.1103619) / Science by L Crabbe (2004)
  39. Espejel, S. et al. Shorter telomeres, accelerated ageing and increased lymphoma in DNA-PKcs-deficient mice. EMBO Rep. 5, 503–509 (2004).(2002a). (10.1038/sj.embor.7400127) / EMBO Rep. by S Espejel (2004)
  40. Espejel, S. et al. Mammalian Ku86 mediates chromosomal fusions and apoptosis caused by critically short telomeres. EMBO J. 21, 2207–2219 (2002a). (10.1093/emboj/21.9.2207) / EMBO J. by S Espejel (2002)
  41. Espejel, S. et al. Functional interaction between DNA-PKcs and telomerase in telomere length maintenance. EMBO J. 21, 6275–6287 (2002b). (10.1093/emboj/cdf593) / EMBO J. by S Espejel (2002)
  42. Bechter, O. E. et al. Telomeric recombination in mismatch repair deficient human colon cancer cells after telomerase inhibition. Cancer Res. 64, 3444–3451 (2004). (10.1158/0008-5472.CAN-04-0323) / Cancer Res. by OE Bechter (2004)
  43. Bradshaw, P. S., Stavropoulos, D. J. & Meyn, M. S. Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage. Nature Genet. 37, 193–197 (2005). This paper shows that TRF2 can localize to non-telomeric DNA damage lesions produced by a laser track, which indicates a role for TRF2 in DNA damage repair. (10.1038/ng1506) / Nature Genet. by PS Bradshaw (2005)
  44. Karlseder, J. et al. The telomeric protein TRF2 binds the ATM kinase and can inhibit the ATM-dependent DNA damage response. PLoS Biol. 2, e240 (2004). (10.1371/journal.pbio.0020240) / PLoS Biol. by J Karlseder (2004)
  45. Takai, H., Smogorzewska, A. & de Lange, T. DNA damage foci at dysfunctional telomeres. Curr. Biol. 13, 1549–1556 (2003). (10.1016/S0960-9822(03)00542-6) / Curr. Biol. by H Takai (2003)
  46. d'Adda di Fagagna, F. et al. A DNA damage checkpoint response in telomere-initiated senescence. Nature 426, 194–198 (2003). (10.1038/nature02118) / Nature by F d'Adda di Fagagna (2003)
  47. Lustig, A. J. Clues to catastrophic telomere loss in mammals from yeast telomere rapid deletion. Nature Rev. Genet. 4, 916–923 (2003). (10.1038/nrg1207) / Nature Rev. Genet. by AJ Lustig (2003)
  48. Goytisolo, F. A. et al. Short telomeres result in organismal hypersensitivity to ionizing radiation in mammals. J. Exp. Med. 192, 1625–1636 (2000). (10.1084/jem.192.11.1625) / J. Exp. Med. by FA Goytisolo (2000)
  49. Ranganathan, V. et al. Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Curr. Biol. 11, 962–966 (2001). (10.1016/S0960-9822(01)00267-6) / Curr. Biol. by V Ranganathan (2001)
  50. Taylor, A. M., Groom, A. & Byrd, P. J. Ataxia-telangiectasia-like disorder (ATLD) — its clinical presentation and molecular basis. DNA repair 3, 1219–1225 (2004). (10.1016/j.dnarep.2004.04.009) / DNA repair by AM Taylor (2004)
  51. Wyllie, F. S. et al. Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. Nature Genet. 24, 16–17 (2000). (10.1038/71630) / Nature Genet. by FS Wyllie (2000)
  52. de Boer, J. & Hoeijmakers, J. H. Nucleotide excision repair and human syndromes. Carcinogenesis 21, 453–460 (2000). (10.1093/carcin/21.3.453) / Carcinogenesis by J de Boer (2000)
  53. Hande, M. P. et al. Extra-chromosomal telomeric DNA in cells from Atm−/− mice and patients with ataxia-telangiectasia. Hum. Mol. Genet. 10, 519–528 (2001). (10.1093/hmg/10.5.519) / Hum. Mol. Genet. by MP Hande (2001)
  54. Holgersson, A., Nilsson, A., Lewensohn, R. & Kanter, L. Expression of DNA-PKcs and Ku86, but not Ku70, differs between lymphoid malignancies. Exp. Mol. Pathol. 77, 1–6 (2004). (10.1016/j.yexmp.2004.02.001) / Exp. Mol. Pathol. by A Holgersson (2004)
  55. Gonzalez, R. et al. Loss of heterozygosity at RAD51, RAD52, RAD54 and BRCA1 and BRCA2 loci in breast cancer: pathological correlations. Br. J. Cancer 81, 503–509 (1999). (10.1038/sj.bjc.6690722) / Br. J. Cancer by R Gonzalez (1999)
  56. Harley, C. B., Futcher, A. B. & Greider, C. W. Telomeres shorten during ageing of human fibroblasts. Nature 345, 458–460 (1990). (10.1038/345458a0) / Nature by CB Harley (1990)
  57. Shay, J. W. & Wright, W. E. Telomerase: a target for cancer therapeutics. Cancer Cell 2, 257–265 (2002). (10.1016/S1535-6108(02)00159-9) / Cancer Cell by JW Shay (2002)
  58. Lin, S. Y. & Elledge, S. J. Multiple tumor suppressor pathways negatively regulate telomerase. Cell 113, 881–889 (2003). (10.1016/S0092-8674(03)00430-6) / Cell by SY Lin (2003)
  59. Blasco, M. A. Telomerase beyond telomeres. Nature Rev. Cancer 2, 627–632 (2002). (10.1038/nrc862) / Nature Rev. Cancer by MA Blasco (2002)
  60. Henson, J. D., Neumann, A. A., Yeager, T. R. & Reddel, R. R. Alternative lengthening of telomeres in mammalian cells. Oncogene 21, 598–610 (2002). (10.1038/sj.onc.1205058) / Oncogene by JD Henson (2002)
  61. Lundblad, V. Telomere maintenance without telomerase. Oncogene 21, 522–531 (2002). (10.1038/sj.onc.1205079) / Oncogene by V Lundblad (2002)
  62. Dunham, M. A., Neumann, A. A., Fasching, C. L. & Reddel, R. R. Telomere maintenance by recombination in human cells. Nature Genet. 26, 447–450 (2000). (10.1038/82586) / Nature Genet. by MA Dunham (2000)
  63. Blasco, M. A., Funk, W. D., Villeponteau, B. & Greider, C. W. Functional characterization and developmental regulation of mouse telomerase RNA. Science 269, 1267–1270 (1995). (10.1126/science.7544492) / Science by MA Blasco (1995)
  64. Blasco, M. A. et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91, 25–34 (1997). (10.1016/S0092-8674(01)80006-4) / Cell by MA Blasco (1997)
  65. Lee, H. W. et al. Essential role of mouse telomerase in highly proliferative organs. Nature 392, 569–574 (1998). (10.1038/33345) / Nature by HW Lee (1998)
  66. Blasco, M. A. Mice with bad ends: mouse models for the study of telomeres and telomerase in cancer and aging. EMBO J. 24, 1095–1103 (2005). (10.1038/sj.emboj.7600598) / EMBO J. by MA Blasco (2005)
  67. Herrera, E. et al. Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. EMBO J. 18, 2950–2960 (1999a). (10.1093/emboj/18.11.2950) / EMBO J. by E Herrera (1999)
  68. Herrera, E., Samper, E. & Blasco, M. A. Telomere shortening in mTR−/− embryos is associated with failure to close the neural tube. EMBO J. 18, 1172–1181 (1999b). (10.1093/emboj/18.5.1172) / EMBO J. by E Herrera (1999)
  69. Herrera, E., Martinez, A. C. & Blasco, M. A. Impaired germinal center reaction in mice with short telomeres. EMBO J. 19, 472–481 (2000). (10.1093/emboj/19.3.472) / EMBO J. by E Herrera (2000)
  70. Franco, S., Segura, I., Riese, H. & Blasco, M. A. Decreased B16F10 melanoma growth and impaired vascularization in telomerase-deficient mice with critically short telomeres. Cancer Res. 62, 552–559 (2002). / Cancer Res. by S Franco (2002)
  71. Ferron, S. et al. Telomere shortening and chromosomal instability abrogates proliferation of adult but not embryonic neural stem cells. Development 131, 4059–4070 (2004). (10.1242/dev.01215) / Development by S Ferron (2004)
  72. Leri, A. et al. Ablation of telomerase and telomere loss leads to cardiac dilatation and heart failure associated with p53 upregulation. EMBO J. 22, 131–139 (2003). (10.1093/emboj/cdg013) / EMBO J. by A Leri (2003)
  73. Samper, E. et al. Long-term repopulating ability of telomerase-deficient murine hematopoietic stem cells. Blood 99, 2767–2775 (2002). (10.1182/blood.V99.8.2767) / Blood by E Samper (2002)
  74. Gonzalez-Suarez, E., Samper, E., Flores, J. M. & Blasco, M. A. Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesis. Nature Genet. 26, 114–117 (2000). This manuscript showed for the first time that short telomeres in the absence of telomerase provide a potent tumour-suppression mechanism in response to carcinogenic treatments. (10.1038/79089) / Nature Genet. by E Gonzalez-Suarez (2000)
  75. Poch, E. et al. Short telomeres protect from diet-induced atherosclerosis in apolipoprotein E-null mice. FASEB J. 18, 418–420 (2004). (10.1096/fj.03-0710fje) / FASEB J. by E Poch (2004)
  76. Samper, E., Flores, J. M. & Blasco, M. A. Restoration of telomerase activity rescues chromosomal instability and premature aging in Terc −/− mice with short telomeres. EMBO Rep. 2, 1–8 (2001). This paper demonstrates that short telomeres in the absence of telomerase are the direct cause of chromosomal aberrations and premature ageing in the context of the telomerase-deficient mouse model, as both premature ageing and chromosomal instability can be prevented by telomerase reintroduction and rescue of short telomeres. (10.1093/embo-reports/kve174) / EMBO Rep. by E Samper (2001)
  77. Chin, L. et al. p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 97, 527–538 (1999). (10.1016/S0092-8674(00)80762-X) / Cell by L Chin (1999)
  78. Rudolph, K. L., Millard, M., Bosenberg, M. W. & DePinho, R. A. Telomere dysfunction and evolution of intestinal carcinoma in mice and humans. Nature Genet. 28, 155–159 (2001). (10.1038/88871) / Nature Genet. by KL Rudolph (2001)
  79. Greenberg, R. A. et al. Short dysfunctional telomeres impair tumorigenesis in the INK4a(δ2/3) cancer-prone mouse. Cell 97, 515–525 (1999). (10.1016/S0092-8674(00)80761-8) / Cell by RA Greenberg (1999)
  80. Gonzalez-Suarez, E. et al. Increased epidermal tumors and increased skin wound healing in transgenic mice overexpressing the catalytic subunit of telomerase, mTERT, in basal keratinocytes. EMBO J. 20, 2619–2630 (2001). (10.1093/emboj/20.11.2619) / EMBO J. by E Gonzalez-Suarez (2001)
  81. González-Suárez, E., Flores, J. M. & Blasco, M. A. Cooperation between p53 mutation and high telomerase transgenic expression in spontaneous cancer development. Mol. Cell. Biol. 22, 7291–7301 (2002). (10.1128/MCB.22.20.7291-7301.2002) / Mol. Cell. Biol. by E González-Suárez (2002)
  82. González-Suárez, E., Geserick, C., Flores, J. M. & Blasco, M. A. Antagonistic effects of telomerase on cancer and aging in K5-mTert transgenic mice. Oncogene 24, 2256–22570 (2005). (10.1038/sj.onc.1208413) / Oncogene by E González-Suárez (2005)
  83. Artandi, S. E. et al. Constitutive telomerase expression promotes mammary carcinomas in aging mice. Proc. Natl Acad. Sci. USA 99, 8191–8196 (2002). (10.1073/pnas.112515399) / Proc. Natl Acad. Sci. USA by SE Artandi (2002)
  84. Canela, A., Martín-Caballero, J., Flores, J. M. & Blasco, M. A. Constitutive expression of Tert in thymocytes leads to increased incidence and dissemination of T-cell lymphoma in Lck-Tert mice. Mol. Cell. Biol. 24, 4275–4293 (2004). (10.1128/MCB.24.10.4275-4293.2004) / Mol. Cell. Biol. by A Canela (2004)
  85. Oh, H. et al. Telomerase reverse transcriptase promotes cardiac muscle cell proliferation, hypertrophy, and survival. Proc. Natl Acad. Sci. USA 98, 10308–10313 (2001). (10.1073/pnas.191169098) / Proc. Natl Acad. Sci. USA by H Oh (2001)
  86. Cayuela, M. L., Flores, J. M. & Blasco, M. A. The telomerase RNA component Terc is required for the tumour-promoting effects of Tert overexpression. EMBO Rep. 6, 268–274 (2005). (10.1038/sj.embor.7400359) / EMBO Rep. by ML Cayuela (2005)
  87. Oh, H. et al. Telomere attrition and Chk2 activation in human heart failure. Proc. Natl Acad. Sci. USA 100, 5378–5383 (2003). (10.1073/pnas.0836098100) / Proc. Natl Acad. Sci. USA by H Oh (2003)
  88. O'Sullivan, J. N. et al. Chromosomal instability in ulcerative colitis is related to telomere shortening. Nature Genet. 32, 280–284 (2002). (10.1038/ng989) / Nature Genet. by JN O'Sullivan (2002)
  89. Wiemann, S. U. et al. Hepatocyte telomere shortening and senescence are general markers of human liver cirrhosis. FASEB J. 16, 935–942 (2002). (10.1096/fj.01-0977com) / FASEB J. by SU Wiemann (2002)
  90. Samani, N. J., Boultby, R., Butler, R., Thompson, J. R. & Goodall, A. H. Telomere shortening in atherosclerosis. Lancet 358, 472–473 (2001). (10.1016/S0140-6736(01)05633-1) / Lancet by NJ Samani (2001)
  91. Cawthon, R. M., Smith, K. R., O'Brien, E., Sivatchenko, A. & Kerber, R. A. Association between telomere length in blood and mortality in people aged 60 years or older. Lancet 361, 393–365 (2003). This paper shows that telomere length in aged individuals is predictive of the time to death caused by heart disease and infections. (10.1016/S0140-6736(03)12384-7) / Lancet by RM Cawthon (2003)
  92. Epel, E. S. et al. Accelerated telomere shortening in response to life stress. Proc. Natl Acad. Sci. USA 101, 17312–17315 (2004). A negative correlation between telomerase activity levels and telomere length in blood cells is described for women exposed to perceived stress. (10.1073/pnas.0407162101) / Proc. Natl Acad. Sci. USA by ES Epel (2004)
  93. Mitchell, J. R., Wood, E. & Collins, K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402, 551–555 (1999). (10.1038/990141) / Nature by JR Mitchell (1999)
  94. Vulliamy, T. et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413, 432–435 (2001). (10.1038/35096585) / Nature by T Vulliamy (2001)
  95. Vulliamy, T. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genet. 36, 447–449 (2004). A correlation between disease presentation and telomere length is observed in families with dyskeratosis congenita. (10.1038/ng1346) / Nature Genet. by T Vulliamy (2004)
  96. Yamaguchi, H. et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N. Engl. J. Med. 352, 1413–1424 (2005). (10.1056/NEJMoa042980) / N. Engl. J. Med. by H Yamaguchi (2005)
  97. Marrone, A. et al. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 104, 3936–3342 (2004). (10.1182/blood-2004-05-1829) / Blood by A Marrone (2004)
  98. Tahara, H. et al. Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein–Barr virus. Oncogene 15, 1911–1920 (1997). (10.1038/sj.onc.1201377) / Oncogene by H Tahara (1997)
  99. Tchirkov, A. & Lansdorp, P. M. Role of oxidative stress in telomere shortening in cultured fibroblasts from normal individuals and patients with ataxia-telangiectasia. Hum. Mol. Genet. 12, 227–327 (2003). (10.1093/hmg/ddg023) / Hum. Mol. Genet. by A Tchirkov (2003)
  100. Lebel, M & Leder, P. A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity. Proc. Natl Acad. Sci. USA 95, 13097–13102 (1998). (10.1073/pnas.95.22.13097) / Proc. Natl Acad. Sci. USA by M Lebel (1998)
  101. Chester, N., Kuo, F., Kozak, C., O'Hara, C. D. & Leder, P. Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev. 12, 3382–3393 (1998). (10.1101/gad.12.21.3382) / Genes Dev. by N Chester (1998)
  102. Barlow, C. et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86, 159–171 (1996). (10.1016/S0092-8674(00)80086-0) / Cell by C Barlow (1996)
  103. Koomen, M. et al. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum. Mol. Genet. 11, 273–281 (2002). (10.1093/hmg/11.3.273) / Hum. Mol. Genet. by M Koomen (2002)
  104. Chang, S. et al. Essential role of limiting telomeres in the pathogenesis of Werner syndrome. Nature Genet. 36, 877–882 (2004). (10.1038/ng1389) / Nature Genet. by S Chang (2004)
  105. Wong, K. K. et al. Telomere dysfunction and Atm deficiency compromises organ homeostasis and accelerates ageing. Nature 421, 643–648 (2003). (10.1038/nature01385) / Nature by KK Wong (2003)
  106. Du, X. et al. Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. Mol. Cell. Biol. 24, 8437–8446 (2004). (10.1128/MCB.24.19.8437-8446.2004) / Mol. Cell. Biol. by X Du (2004)
  107. Franco, S. et al. Telomere dynamics in Fancg-deficient mouse and human cells. Blood 104, 3927–3935 (2004). (10.1182/blood-2003-10-3626) / Blood by S Franco (2004)
  108. Mochizuki, Y. et al. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl Acad. Sci. USA 101, 10756–10761 (2004). (10.1073/pnas.0402560101) / Proc. Natl Acad. Sci. USA by Y Mochizuki (2004)
  109. Espejel, S. et al. Impact of telomerase ablation on organismal viability, aging, and tumorigenesis in mice lacking the DNA repair proteins PARP-1, Ku86, or DNA-PKcs. J. Cell Biol. 167, 627–638 (2004). (10.1083/jcb.200407178) / J. Cell Biol. by S Espejel (2004)
  110. Shay, J. W. & Wright, W. E. Mechanism-based combination telomerase inhibition therapy. Cancer Cell 7, 1–2 (2005). (10.1016/j.ccr.2004.12.012) / Cancer Cell by JW Shay (2005)
Dates
Type When
Created 18 years, 7 months ago (Jan. 26, 2007, 11:50 a.m.)
Deposited 2 years, 3 months ago (May 19, 2023, midnight)
Indexed 3 days, 23 hours ago (Aug. 26, 2025, 2:44 a.m.)
Issued 20 years ago (Aug. 1, 2005)
Published 20 years ago (Aug. 1, 2005)
Published Print 20 years ago (Aug. 1, 2005)
Funders 0

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@article{Blasco_2005, title={Telomeres and human disease: ageing, cancer and beyond}, volume={6}, ISSN={1471-0064}, url={http://dx.doi.org/10.1038/nrg1656}, DOI={10.1038/nrg1656}, number={8}, journal={Nature Reviews Genetics}, publisher={Springer Science and Business Media LLC}, author={Blasco, Maria A.}, year={2005}, month=aug, pages={611–622} }