• 1
    Longhese MP (2008) DNA damage response at functional and dysfunctional telomeres. Genes Dev 22, 125140.
  • 2
    Blackburn EH, Greider CW & Szostak JW (2006) Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat Med 12, 11331138.
  • 3
    Griffith JD, Comeau L, Rosenfield S, Stansel RM, Bianchi A, Moss H & de Lange T (1999) Mammalian telomeres end in a large duplex loop. Cell 97, 503514.
  • 4
    de Lange T (2002) Protection of mammalian telomeres. Oncogene 21, 532540.
  • 5
    de Lange T (2005) Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 19, 21002110.
  • 6
    Cairney CJ & Keith WN (2008) Telomerase redefined: integrated regulation of hTR and hTERT for telomere maintenance and telomerase activity. Biochimie 90, 1323.
  • 7
    Zhao Y, Sfeir AJ, Zou Y, Buseman CM, Chow TT, Shay JW & Wright WE (2009) Telomere extension occurs at most chromosome ends and is uncoupled from fill-in in human cancer cells. Cell 138, 463475.
  • 8
    Hayflick L (1965) The limited in vitro lifetime of human diploid cell strains. Exp Cell Res 37, 614636.
  • 9
    Mitchell JR, Cheng J & Collins K (1999) A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol Cell Biol 19, 567576.
  • 10
    Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I et al. (1999) X-Linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 65, 5058.
  • 11
    Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ & Dokal I (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447449.
  • 12
    Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A & Dokal I (2005) Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 34, 257263.
  • 13
    Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA & Greider CW (1997) Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91, 2534.
  • 14
    Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM & Alter BP (2008) TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 82, 501509.
  • 15
    Walne AJ, Vulliamy T, Beswick R, Kirwan M & Dokal I (2008) TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 112, 35943600.
  • 16
    Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M & Dokal I (2007) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 16, 16191629.
  • 17
    Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A & Dokal I (2008) Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA 105, 80738078.
  • 18
    Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP & Artandi SE (2011) Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev 25, 1116.
  • 19
    Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM & Young NS (2005) Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 352, 14131424.
  • 20
    Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E & Young NS (2003) Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102, 916918.
  • 21
    Calado RT, Cooper JN, Padilla-Nash HM, Sloand EM, Wu CO, Scheinberg P, Ried T & Young NS (2012) Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia. Leukemia 26, 700707.
  • 22
    Armanios M (2012) Telomerase and idiopathic pulmonary fibrosis. Mutat Res 730, 5258.
  • 23
    Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL & Garcia CK (2008) Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med 178, 729737.
  • 24
    Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA III et al. (2007) Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 356, 13171326.
  • 25
    Dutrillaux B, Aurias A, Dutrillaux AM, Buriot D & Prieur M (1982) The cell cycle of lymphocytes in Fanconi anemia. Hum Genet 62, 327332.
  • 26
    Leteurtre F, Li X, Guardiola P, Le Roux G, Sergere JC, Richard P, Carosella ED & Gluckman E (1999) Accelerated telomere shortening and telomerase activation in Fanconi's anaemia. Br J Haematol 105, 883893.
  • 27
    Hanson H, Mathew CG, Docherty Z & Mackie Ogilvie C (2001) Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach. Cytogenet Cell Genet 93, 203206.
  • 28
    Callen E, Samper E, Ramirez MJ, Creus A, Marcos R, Ortega JJ, Olive T, Badell I, Blasco MA & Surralles J (2002) Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. Hum Mol Genet 11, 439444.
  • 29
    Ball SE, Gibson FM, Rizzo S, Tooze JA, Marsh JC & Gordon-Smith EC (1998) Progressive telomere shortening in aplastic anemia. Blood 91, 35823592.
  • 30
    Adelfalk C, Lorenz M, Serra V, von Zglinicki T, Hirsch-Kauffmann M & Schweiger M (2001) Accelerated telomere shortening in Fanconi anemia fibroblasts – a longitudinal study. FEBS Lett 506, 2226.
  • 31
    Rhee DB, Wang Y, Mizesko M, Zhou F, Haneline L & Liu Y (2010) FANCC suppresses short telomere-initiated telomere sister chromatid exchange. Hum Mol Genet 19, 879887.
  • 32
    Li X, Leteurtre F, Rocha V, Guardiola P, Berger R, Daniel MT, Noguera MH, Maarek O, Roux GL, de la Salmoniere P et al. (2003) Abnormal telomere metabolism in Fanconi's anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia. Br J Haematol 120, 836845.
  • 33
    Franco S, van de Vrugt HJ, Fernandez P, Aracil M, Arwert F & Blasco MA (2004) Telomere dynamics in Fancg-deficient mouse and human cells. Blood 104, 39273935.
  • 34
    Fan Q, Zhang F, Barrett B, Ren K & Andreassen PR (2009) A role for monoubiquitinated FANCD2 at telomeres in ALT cells. Nucleic Acids Res 37, 17401754.
  • 35
    Goto M, Miller RW, Ishikawa Y & Sugano H (1996) Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomark Prev 5, 239246.
  • 36
    Opresko PL, Otterlei M, Graakjaer J, Bruheim P, Dawut L, Kolvraa S, May A, Seidman MM & Bohr VA (2004) The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2. Mol Cell 14, 763774.
  • 37
    Orren DK, Theodore S & Machwe A (2002) The Werner syndrome helicase/exonuclease (WRN) disrupts and degrades D-loops in vitro. Biochemistry 41, 1348313488.
  • 38
    Ghosh A, Rossi ML, Aulds J, Croteau D & Bohr VA (2009) Telomeric D-loops containing 8-oxo-2′-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. J Biol Chem 284, 3107431084.
  • 39
    Crabbe L, Verdun RE, Haggblom CI & Karlseder J (2004) Defective telomere lagging strand synthesis in cells lacking WRN helicase activity. Science 306, 19511953.
  • 40
    Damerla RR, Knickelbein KE, Strutt S, Liu FJ, Wang H & Opresko PL (2012) Werner syndrome protein suppresses the formation of large deletions during the replication of human telomeric sequences. Cell Cycle 11, 30363044.
  • 41
    Opresko PL, von Kobbe C, Laine JP, Harrigan J, Hickson ID & Bohr VA (2002) Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. J Biol Chem 277, 4111041119.
  • 42
    Machwe A, Xiao L & Orren DK (2004) TRF2 recruits the Werner syndrome (WRN) exonuclease for processing of telomeric DNA. Oncogene 23, 149156.
  • 43
    Nora GJ, Buncher NA & Opresko PL (2010) Telomeric protein TRF2 protects Holliday junctions with telomeric arms from displacement by the Werner syndrome helicase. Nucleic Acids Res 38, 39843998.
  • 44
    Opresko PL, Mason PA, Podell ER, Lei M, Hickson ID, Cech TR & Bohr VA (2005) POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. J Biol Chem 280, 3206932080.
  • 45
    Sowd G, Lei M & Opresko PL (2008) Mechanism and substrate specificity of telomeric protein POT1 stimulation of the Werner syndrome helicase. Nucleic Acids Res 36, 42424256.
  • 46
    Zaug AJ, Podell ER & Cech TR (2005) Human POT1 disrupts telomeric G-quadruplexes allowing telomerase extension in vitro. Proc Natl Acad Sci USA 102, 1086410869.
  • 47
    Ishikawa N, Nakamura K, Izumiyama-Shimomura N, Aida J, Ishii A, Goto M, Ishikawa Y, Asaka R, Matsuura M, Hatamochi A et al. (2011) Accelerated in vivo epidermal telomere loss in Werner syndrome. Aging (Albany NY) 3, 417429.
  • 48
    Wyllie FS, Jones CJ, Skinner JW, Haughton MF, Wallis C, Wynford-Thomas D, Faragher RG & Kipling D (2000) Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. Nat Genet 24, 1617.
  • 49
    Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H & Karlseder J (2007) Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci USA 104, 22052210.
  • 50
    Hagelstrom RT, Blagoev KB, Niedernhofer LJ, Goodwin EH & Bailey SM (2010) Hyper telomere recombination accelerates replicative senescence and may promote premature aging. Proc Natl Acad Sci USA 107, 1576815773.
  • 51
    Laud PR, Multani AS, Bailey SM, Wu L, Ma J, Kingsley C, Lebel M, Pathak S, DePinho RA & Chang S (2005) Elevated telomere-telomere recombination in WRN-deficient, telomere dysfunctional cells promotes escape from senescence and engagement of the ALT pathway. Genes Dev 19, 25602570.
  • 52
    Chang S, Multani AS, Cabrera NG, Naylor ML, Laud P, Lombard D, Pathak S, Guarente L & DePinho RA (2004) Essential role of limiting telomeres in the pathogenesis of Werner syndrome. Nat Genet 36, 877882.
  • 53
    Du X, Shen J, Kugan N, Furth EE, Lombard DB, Cheung C, Pak S, Luo G, Pignolo RJ, DePinho RA et al. (2004) Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. Mol Cell Biol 24, 84378446.
  • 54
    German J (1993) Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 72, 393406.
  • 55
    Kaneko H & Kondo N (2004) Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn 4, 393401.
  • 56
    Chaganti RS, Schonberg S & German J (1974) A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci USA 71, 45084512.
  • 57
    Lillard-Wetherell K, Machwe A, Langland GT, Combs KA, Behbehani GK, Schonberg SA, German J, Turchi JJ, Orren DK & Groden J (2004) Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. Hum Mol Genet 13, 19191932.
  • 58
    Stavropoulos DJ, Bradshaw PS, Li X, Pasic I, Truong K, Ikura M, Ungrin M & Meyn MS (2002) The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. Hum Mol Genet 11, 31353144.
  • 59
    Yang J, Bachrati CZ, Ou J, Hickson ID & Brown GW (2010) Human topoisomerase IIIalpha is a single-stranded DNA decatenase that is stimulated by BLM and RMI1. J Biol Chem 285, 2142621436.
  • 60
    Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R & Guarente L (2000) Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res 60, 11621167.
  • 61
    Xu D, Guo R, Sobeck A, Bachrati CZ, Yang J, Enomoto T, Brown GW, Hoatlin ME, Hickson ID & Wang W (2008) RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. Genes Dev 22, 28432855.
  • 62
    Singh TR, Ali AM, Busygina V, Raynard S, Fan Q, Du CH, Andreassen PR, Sung P & Meetei AR (2008) BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. Genes Dev 22, 28562868.
  • 63
    Mohaghegh P, Karow JK, Brosh RM Jr, Bohr VA & Hickson ID (2001) The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res 29, 28432849.
  • 64
    Karow JK, Constantinou A, Li JL, West SC & Hickson ID (2000) The Bloom's syndrome gene product promotes branch migration of Holliday junctions. Proc Natl Acad Sci USA 97, 65046508.
  • 65
    Sun H, Karow JK, Hickson ID & Maizels N (1998) The Bloom's syndrome helicase unwinds G4 DNA. J Biol Chem 273, 2758727592.
  • 66
    van Brabant AJ, Ye T, Sanz M, German IJ, Ellis NA & Holloman WK (2000) Binding and melting of D-loops by the Bloom syndrome helicase. Biochemistry 39, 1461714625.
  • 67
    von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng X, Brosh RM Jr, Hickson ID & Bohr VA (2002) Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. J Biol Chem 277, 2203522044.
  • 68
    Schawalder J, Paric E & Neff NF (2003) Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. BMC Cell Biol 4, 15.
  • 69
    Mendez-Bermudez A, Hidalgo-Bravo A, Cotton VE, Gravani A, Jeyapalan JN & Royle NJ (2012) The roles of WRN and BLM RecQ helicases in the alternative lengthening of telomeres. Nucleic Acids Res 40, 1080910820.
  • 70
    Pandita TK, Pathak S & Geard CR (1995) Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells. Cytogenet Cell Genet 71, 8693.
  • 71
    Smilenov LB, Morgan SE, Mellado W, Sawant SG, Kastan MB & Pandita TK (1997) Influence of ATM function on telomere metabolism. Oncogene 15, 26592665.
  • 72
    Wood LD, Halvorsen TL, Dhar S, Baur JA, Pandita RK, Wright WE, Hande MP, Calaf G, Hei TK, Levine F et al. (2001) Characterization of ataxia telangiectasia fibroblasts with extended life-span through telomerase expression. Oncogene 20, 278288.
  • 73
    Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D et al. (1996) Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86, 159171.
  • 74
    Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS & Baltimore D (1996) Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 10, 24112422.
  • 75
    Qi L, Strong MA, Karim BO, Armanios M, Huso DL & Greider CW (2003) Short telomeres and ataxia-telangiectasia mutated deficiency cooperatively increase telomere dysfunction and suppress tumorigenesis. Cancer Res 63, 81888196.
  • 76
    Kishi S & Lu KP (2002) A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia-telangiectasia cells. J Biol Chem 277, 74207429.
  • 77
    Karlseder J, Hoke K, Mirzoeva OK, Bakkenist C, Kastan MB, Petrini JH & de Lange T (2004) The telomeric protein TRF2 binds the ATM kinase and can inhibit the ATM-dependent DNA damage response. PLoS Biol 2, E240.
  • 78
    Smilenov LB, Dhar S & Pandita TK (1999) Altered telomere nuclear matrix interactions and nucleosomal periodicity in ataxia telangiectasia cells before and after ionizing radiation treatment. Mol Cell Biol 19, 69636971.
  • 79
    Pandita TK & Dhar S (2000) Influence of ATM function on interactions between telomeres and nuclear matrix. Radiat Res 154, 133139.
  • 80
    Williams BR, Mirzoeva OK, Morgan WF, Lin J, Dunnick W & Petrini JH (2002) A murine model of Nijmegen breakage syndrome. Curr Biol 12, 648653.
  • 81
    Zhu XD, Kuster B, Mann M, Petrini JH & de Lange T (2000) Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. Nat Genet 25, 347352.
  • 82
    Wu G, Lee WH & Chen PL (2000) NBS1 and TRF1 colocalize at promyelocytic leukemia bodies during late S/G2 phases in immortalized telomerase-negative cells. Implication of NBS1 in alternative lengthening of telomeres. J Biol Chem 275, 3061830622.
  • 83
    Ranganathan V, Heine WF, Ciccone DN, Rudolph KL, Wu X, Chang S, Hai H, Ahearn IM, Livingston DM, Resnick I et al. (2001) Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Curr Biol 11, 962966.
  • 84
    Bai Y & Murnane JP (2003) Telomere instability in a human tumor cell line expressing NBS1 with mutations at sites phosphorylated by ATM. Mol Cancer Res 1, 10581069.
  • 85
    Wu G, Jiang X, Lee WH & Chen PL (2003) Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen breakage syndrome 1. Cancer Res 63, 25892595.
  • 86
    Iijima K, Komatsu K, Matsuura S & Tauchi H (2004) The Nijmegen breakage syndrome gene and its role in genome stability. Chromosoma 113, 5361.
  • 87
    Zhong ZH, Jiang WQ, Cesare AJ, Neumann AA, Wadhwa R & Reddel RR (2007) Disruption of telomere maintenance by depletion of the MRE11/RAD50/NBS1 complex in cells that use alternative lengthening of telomeres. J Biol Chem 282, 2931429322.
  • 88
    Compton SA, Choi JH, Cesare AJ, Ozgur S & Griffith JD (2007) Xrcc3 and Nbs1 are required for the production of extrachromosomal telomeric circles in human alternative lengthening of telomere cells. Cancer Res 67, 15131519.
  • 89
    Schiller CB, Lammens K, Guerini I, Coordes B, Feldmann H, Schlauderer F, Mockel C, Schele A, Strasser K, Jackson SP et al. (2012) Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling. Nat Struct Mol Biol 19, 693700.
  • 90
    Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH & Taylor AM (1999) The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99, 577587.
  • 91
    Yamaguchi-Iwai Y, Sonoda E, Sasaki MS, Morrison C, Haraguchi T, Hiraoka Y, Yamashita YM, Yagi T, Takata M, Price C et al. (1999) Mre11 is essential for the maintenance of chromosomal DNA in vertebrate cells. EMBO J 18, 66196629.
  • 92
    Zhu J, Petersen S, Tessarollo L & Nussenzweig A (2001) Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr Biol 11, 105109.
  • 93
    Stracker TH, Theunissen JW, Morales M & Petrini JH (2004) The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together. DNA Repair (Amst) 3, 845854.
  • 94
    Theunissen JW, Kaplan MI, Hunt PA, Williams BR, Ferguson DO, Alt FW & Petrini JH (2003) Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Mol Cell 12, 15111523.
  • 95
    Wu Y, Xiao S & Zhu XD (2007) MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control. Nat Struct Mol Biol 14, 832840.
  • 96
    Chai W, Sfeir AJ, Hoshiyama H, Shay JW & Wright WE (2006) The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres. EMBO Rep 7, 225230.
  • 97
    Attwooll CL, Akpinar M & Petrini JH (2009) The mre11 complex and the response to dysfunctional telomeres. Mol Cell Biol 29, 55405551.
  • 98
    Deng Y, Guo X, Ferguson DO & Chang S (2009) Multiple roles for MRE11 at uncapped telomeres. Nature 460, 914918.
  • 99
    Tankimanova M, Capper R, Letsolo BT, Rowson J, Jones RE, Britt-Compton B, Taylor AM & Baird DM (2012) Mre11 modulates the fidelity of fusion between short telomeres in human cells. Nucleic Acids Res 40, 25182526.
  • 100
    Kavitha CV, Choudhary B, Raghavan SC & Muniyappa K (2010) Differential regulation of MRN (Mre11-Rad50-Nbs1) complex subunits and telomerase activity in cancer cells. Biochem Biophys Res Commun 399, 575580.
  • 101
    Passos JF, Saretzki G & von Zglinicki T (2007) DNA damage in telomeres and mitochondria during cellular senescence: is there a connection? Nucleic Acids Res 35, 75057513.
  • 102
    Fitzpatrick AL, Kronmal RA, Kimura M, Gardner JP, Psaty BM, Jenny NS, Tracy RP, Hardikar S & Aviv A (2011) Leukocyte telomere length and mortality in the Cardiovascular Health Study. J Gerontol A Biol Sci Med Sci 66, 421429.
  • 103
    DePinho RA & Polyak K (2004) Cancer chromosomes in crisis. Nat Genet 36, 932934.
  • 104
    Rudolph KL, Chang S, Lee HW, Blasco M, Gottlieb GJ, Greider C & DePinho RA (1999) Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 96, 701712.
  • 105
    Chin L, Artandi SE, Shen Q, Tam A, Lee SL, Gottlieb GJ, Greider CW & DePinho RA (1999) p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 97, 527538.
  • 106
    Greenberg RA, Chin L, Femino A, Lee KH, Gottlieb GJ, Singer RH, Greider CW & DePinho RA (1999) Short dysfunctional telomeres impair tumorigenesis in the INK4a(delta2/3) cancer-prone mouse. Cell 97, 515525.
  • 107
    Hahn WC, Stewart SA, Brooks MW, York SG, Eaton E, Kurachi A, Beijersbergen RL, Knoll JH, Meyerson M & Weinberg RA (1999) Inhibition of telomerase limits the growth of human cancer cells. Nat Med 5, 11641170.
  • 108
    Zhang X, Mar V, Zhou W, Harrington L & Robinson MO (1999) Telomere shortening and apoptosis in telomerase-inhibited human tumor cells. Genes Dev 13, 23882399.
  • 109
    Gonzalez-Suarez E, Samper E, Flores JM & Blasco MA (2000) Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesis. Nat Genet 26, 114117.
  • 110
    Slijepcevic P (2006) The role of DNA damage response proteins at telomeres – an ‘integrative’ model. DNA Repair (Amst) 5, 12991306.
  • 111
    Fitzpatrick AL, Kronmal RA, Gardner JP, Psaty BM, Jenny NS, Tracy RP, Walston J, Kimura M & Aviv A (2007) Leukocyte telomere length and cardiovascular disease in the cardiovascular health study. Am J Epidemiol 165, 1421.
  • 112
    Oh H, Wang SC, Prahash A, Sano M, Moravec CS, Taffet GE, Michael LH, Youker KA, Entman ML & Schneider MD (2003) Telomere attrition and Chk2 activation in human heart failure. Proc Natl Acad Sci USA 100, 53785383.
  • 113
    Samani NJ, Boultby R, Butler R, Thompson JR & Goodall AH (2001) Telomere shortening in atherosclerosis. Lancet 358, 472473.
  • 114
    Weischer M, Bojesen SE, Cawthon RM, Freiberg JJ, Tybjaerg-Hansen A & Nordestgaard BG (2012) Short telomere length, myocardial infarction, ischemic heart disease, and early death. Arterioscler Thromb Vasc Biol 32, 822829.
  • 115
    Yan J, Yang Y, Chen C, Peng J, Ding H & Wen Wang D (2011) Short leukocyte telomere length is associated with aortic dissection. Intern Med 50, 28712875.
  • 116
    Wang YY, Chen AF, Wang HZ, Xie LY, Sui KX & Zhang QY (2011) Association of shorter mean telomere length with large artery stiffness in patients with coronary heart disease. Aging Male 14, 2732.
  • 117
    Sampson MJ, Winterbone MS, Hughes JC, Dozio N & Hughes DA (2006) Monocyte telomere shortening and oxidative DNA damage in type 2 diabetes. Diabetes Care 29, 283289.
  • 118
    O'Sullivan JN, Bronner MP, Brentnall TA, Finley JC, Shen WT, Emerson S, Emond MJ, Gollahon KA, Moskovitz AH, Crispin DA et al. (2002) Chromosomal instability in ulcerative colitis is related to telomere shortening. Nat Genet 32, 280284.
  • 119
    Wiemann SU, Satyanarayana A, Tsahuridu M, Tillmann HL, Zender L, Klempnauer J, Flemming P, Franco S, Blasco MA, Manns MP et al. (2002) Hepatocyte telomere shortening and senescence are general markers of human liver cirrhosis. FASEB J 16, 935942.
  • 120
    Kitada T, Seki S, Kawakita N, Kuroki T & Monna T (1995) Telomere shortening in chronic liver diseases. Biochem Biophys Res Commun 211, 3339.
  • 121
    Savale L, Chaouat A, Bastuji-Garin S, Marcos E, Boyer L, Maitre B, Sarni M, Housset B, Weitzenblum E, Matrat M et al. (2009) Shortened telomeres in circulating leukocytes of patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med 179, 566571.
  • 122
    Lee J, Sandford AJ, Connett JE, Yan J, Mui T, Li Y, Daley D, Anthonisen NR, Brooks-Wilson A, Man SF et al. (2012) The relationship between telomere length and mortality in chronic obstructive pulmonary disease (COPD). PLoS ONE 7, e35567.
  • 123
    Wu CH, Hsieh SC, Li KJ, Lu MC & Yu CL (2007) Premature telomere shortening in polymorphonuclear neutrophils from patients with systemic lupus erythematosus is related to the lupus disease activity. Lupus 16, 265272.
  • 124
    Kurosaka D, Yasuda J, Yoshida K, Yoneda A, Yasuda C, Kingetsu I, Toyokawa Y, Yokoyama T, Saito S & Yamada A (2006) Abnormal telomerase activity and telomere length in T and B cells from patients with systemic lupus erythematosus. J Rheumatol 33, 11021107.
  • 125
    Souza RF, Lunsford T, Ramirez RD, Zhang X, Lee EL, Shen Y, Owen C, Shay JW, Morales C & Spechler SJ (2007) GERD is associated with shortened telomeres in the squamous epithelium of the distal esophagus. Am J Physiol Gastrointest Liver Physiol 293, G19G24.
  • 126
    Cottliar A, Palumbo M, La Motta G, de Barrio S, Crivelli A, Viola M, Gomez JC & Slavutsky I (2003) Telomere length study in celiac disease. Am J Gastroenterol 98, 27272731.
    Direct Link:
  • 127
    Cottliar A, Pedrazzini E, Corrado C, Engelberger MI, Narbaitz M & Slavutsky I (2003) Telomere shortening in patients with plasma cell disorders. Eur J Haematol 71, 334340.
  • 128
    Honig LS, Kang MS, Schupf N, Lee JH & Mayeux R. (2012) Association of shorter leukocyte telomere repeat length with dementia and mortality. Arch Neurol, 69, 13321339.
  • 129
    Hochstrasser T, Marksteiner J & Humpel C (2012) Telomere length is age-dependent and reduced in monocytes of Alzheimer patients. Exp Gerontol 47, 160163.
  • 130
    Panossian LA, Porter VR, Valenzuela HF, Zhu X, Reback E, Masterman D, Cummings JL & Effros RB (2003) Telomere shortening in T cells correlates with Alzheimer's disease status. Neurobiol Aging 24, 7784.
  • 131
    Watfa G, Dragonas C, Brosche T, Dittrich R, Sieber CC, Alecu C, Benetos A & Nzietchueng R (2011) Study of telomere length and different markers of oxidative stress in patients with Parkinson's disease. J Nutr Health Aging 15, 277281.
  • 132
    Wolthers KC, Bea G, Wisman A, Otto SA, de Roda Husman AM, Schaft N, de Wolf F, Goudsmit J, Coutinho RA, van der Zee AG et al. (1996) T cell telomere length in HIV-1 infection: no evidence for increased CD4+ T cell turnover. Science 274, 15431547.
  • 133
    van de Berg PJ, Griffiths SJ, Yong SL, Macaulay R, Bemelman FJ, Jackson S, Henson SM, ten Berge IJ, Akbar AN & van Lier RA (2010) Cytomegalovirus infection reduces telomere length of the circulating T cell pool. J Immunol 184, 34173423.
  • 134
    Kitay-Cohen Y, Goldberg-Bittman L, Hadary R, Fejgin MD & Amiel A (2008) Telomere length in Hepatitis C. Cancer Genet Cytogenet 187, 3438.
  • 135
    Plunkett FJ, Soares MV, Annels N, Hislop A, Ivory K, Lowdell M, Salmon M, Rickinson A & Akbar AN (2001) The flow cytometric analysis of telomere length in antigen-specific CD8+ T cells during acute Epstein-Barr virus infection. Blood 97, 700707.
  • 136
    van Heek NT, Meeker AK, Kern SE, Yeo CJ, Lillemoe KD, Cameron JL, Offerhaus GJ, Hicks JL, Wilentz RE, Goggins MG et al. (2002) Telomere shortening is nearly universal in pancreatic intraepithelial neoplasia. Am J Pathol 161, 15411547.
  • 137
    Mu Y, Zhang Q, Mei L, Liu X, Yang W & Yu J (2012) Telomere shortening occurs early during gastrocarcinogenesis. Med Oncol 29, 893898.
  • 138
    Chin K, de Solorzano CO, Knowles D, Jones A, Chou W, Rodriguez EG, Kuo WL, Ljung BM, Chew K, Myambo K et al. (2004) In situ analyses of genome instability in breast cancer. Nat Genet 36, 984988.
  • 139
    Plentz RR, Park YN, Lechel A, Kim H, Nellessen F, Langkopf BH, Wilkens L, Destro A, Fiamengo B, Manns MP et al. (2007) Telomere shortening and inactivation of cell cycle checkpoints characterize human hepatocarcinogenesis. Hepatology 45, 968976.
  • 140
    Meeker AK, Hicks JL, Iacobuzio-Donahue CA, Montgomery EA, Westra WH, Chan TY, Ronnett BM & De Marzo AM (2004) Telomere length abnormalities occur early in the initiation of epithelial carcinogenesis. Clin Cancer Res 10, 33173326.