메뉴 건너뛰기




Volumn 23, Issue 5, 2013, Pages 526-533

Understanding telomere diseases through analysis of patient-derived iPS cells

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN; TELOMERASE;

EID: 84883816534     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2013.07.006     Document Type: Review
Times cited : (29)

References (60)
  • 1
    • 46249125488 scopus 로고    scopus 로고
    • How shelterin protects mammalian telomeres
    • Palm W., de Lange T. How shelterin protects mammalian telomeres. Annu Rev Genet 2008, 41:301-334.
    • (2008) Annu Rev Genet , vol.41 , pp. 301-334
    • Palm, W.1    de Lange, T.2
  • 2
    • 84860456242 scopus 로고    scopus 로고
    • Removal of shelterin reveals the telomere end-protection problem
    • Sfeir A., de Lange T. Removal of shelterin reveals the telomere end-protection problem. Science 2012, 336:593-597.
    • (2012) Science , vol.336 , pp. 593-597
    • Sfeir, A.1    de Lange, T.2
  • 4
    • 0042420304 scopus 로고    scopus 로고
    • DNA damage foci at dysfunctional telomeres
    • Takai H., Smogorzewska A., de Lange T. DNA damage foci at dysfunctional telomeres. Curr Biol 2003, 13:1549-1556.
    • (2003) Curr Biol , vol.13 , pp. 1549-1556
    • Takai, H.1    Smogorzewska, A.2    de Lange, T.3
  • 6
    • 74049111326 scopus 로고    scopus 로고
    • Telomeres and telomerase in cancer
    • Artandi S.E., DePinho R.A. Telomeres and telomerase in cancer. Carcinogenesis 2010, 31:9-18.
    • (2010) Carcinogenesis , vol.31 , pp. 9-18
    • Artandi, S.E.1    DePinho, R.A.2
  • 8
    • 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 J.M., Lee H.W., Blasco M.A. 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
  • 10
    • 78650639126 scopus 로고    scopus 로고
    • The genetics and clinical manifestations of telomere biology disorders
    • Savage S.A., Bertuch A.A. The genetics and clinical manifestations of telomere biology disorders. Genet Med 2010, 12:753-764.
    • (2010) Genet Med , vol.12 , pp. 753-764
    • Savage, S.A.1    Bertuch, A.A.2
  • 15
    • 0034003333 scopus 로고    scopus 로고
    • A critical role for telomeres in suppressing and facilitating carcinogenesis
    • Artandi S.E., DePinho R.A. A critical role for telomeres in suppressing and facilitating carcinogenesis. Curr Opin Genet Dev 2000, 10:39-46.
    • (2000) Curr Opin Genet Dev , vol.10 , pp. 39-46
    • Artandi, S.E.1    DePinho, R.A.2
  • 16
    • 0033553516 scopus 로고    scopus 로고
    • P53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis
    • Chin L., Artandi S.E., Shen Q., Tam A., Lee S.L., Gottlieb G.J., Greider C.W., DePinho R.A. P53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 1999, 97:527-538.
    • (1999) Cell , vol.97 , pp. 527-538
    • Chin, L.1    Artandi, S.E.2    Shen, Q.3    Tam, A.4    Lee, S.L.5    Gottlieb, G.J.6    Greider, C.W.7    DePinho, R.A.8
  • 19
    • 84862127178 scopus 로고    scopus 로고
    • Telomere-driven tetraploidization occurs in human cells undergoing crisis and promotes transformation of mouse cells
    • Davoli T., de Lange T. Telomere-driven tetraploidization occurs in human cells undergoing crisis and promotes transformation of mouse cells. Cancer Cell 2012, 21:765-776.
    • (2012) Cancer Cell , vol.21 , pp. 765-776
    • Davoli, T.1    de Lange, T.2
  • 20
    • 77950932096 scopus 로고    scopus 로고
    • Persistent telomere damage induces bypass of mitosis and tetraploidy
    • Davoli T., Denchi E.L., de Lange T. Persistent telomere damage induces bypass of mitosis and tetraploidy. Cell 2010, 141:81-93.
    • (2010) Cell , vol.141 , pp. 81-93
    • Davoli, T.1    Denchi, E.L.2    de Lange, T.3
  • 24
    • 18844421369 scopus 로고    scopus 로고
    • Mutations in the reverse transcriptase component of telomerase (tert) in patients with bone marrow failure
    • Vulliamy T.J., Walne A., Baskaradas A., Mason P.J., Marrone A., 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
  • 26
    • 0032080191 scopus 로고    scopus 로고
    • Telomerase activity in candidate stem cells from fetal liver and adult bone marrow
    • Yui J., Chiu C.P., Lansdorp P.M. Telomerase activity in candidate stem cells from fetal liver and adult bone marrow. Blood 1998, 91:3255-3262.
    • (1998) Blood , vol.91 , pp. 3255-3262
    • Yui, J.1    Chiu, C.P.2    Lansdorp, P.M.3
  • 27
    • 0030248792 scopus 로고    scopus 로고
    • Telomerase activity in hematopoietic cells is associated with self-renewal potential
    • Morrison S.J., Prowse K.R., Ho P., Weissman I.L. Telomerase activity in hematopoietic cells is associated with self-renewal potential. Immunity 1996, 5:207-216.
    • (1996) Immunity , vol.5 , pp. 207-216
    • Morrison, S.J.1    Prowse, K.R.2    Ho, P.3    Weissman, I.L.4
  • 28
    • 79952751557 scopus 로고    scopus 로고
    • Lgr5 intestinal stem cells have high telomerase activity and randomly segregate their chromosomes
    • Schepers A.G., Vries R., van den Born M., van de Wetering M., Clevers H. Lgr5 intestinal stem cells have high telomerase activity and randomly segregate their chromosomes. EMBO J 2011, 30:1104-1109.
    • (2011) EMBO J , vol.30 , pp. 1104-1109
    • Schepers, A.G.1    Vries, R.2    van den Born, M.3    van de Wetering, M.4    Clevers, H.5
  • 29
    • 0031036132 scopus 로고    scopus 로고
    • Telomerase activity concentrates in the mitotically active segments of human hair follicles
    • Ramirez R.D., Wright W.E., Shay J.W., Taylor R.S. Telomerase activity concentrates in the mitotically active segments of human hair follicles. J Invest Dermatol 1997, 108:113-117.
    • (1997) J Invest Dermatol , vol.108 , pp. 113-117
    • Ramirez, R.D.1    Wright, W.E.2    Shay, J.W.3    Taylor, R.S.4
  • 31
    • 0037480961 scopus 로고    scopus 로고
    • Telomerase is required to slow telomere shortening and extend replicative lifespan of HSCs during serial transplantation
    • Allsopp R.C., Morin G.B., DePinho R., Harley C.B., Weissman I.L. Telomerase is required to slow telomere shortening and extend replicative lifespan of HSCs during serial transplantation. Blood 2003, 102:517-520.
    • (2003) Blood , vol.102 , pp. 517-520
    • Allsopp, R.C.1    Morin, G.B.2    DePinho, R.3    Harley, C.B.4    Weissman, I.L.5
  • 33
    • 34250007142 scopus 로고    scopus 로고
    • Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age
    • Rossi D.J., Bryder D., Seita J., Nussenzweig A., Hoeijmakers J., Weissman I.L. Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature 2007, 447:725-729.
    • (2007) Nature , vol.447 , pp. 725-729
    • Rossi, D.J.1    Bryder, D.2    Seita, J.3    Nussenzweig, A.4    Hoeijmakers, J.5    Weissman, I.L.6
  • 39
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • Mitchell J.R., Wood E., Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999, 402:551-555.
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 41
    • 63649111958 scopus 로고    scopus 로고
    • A conserved wd40 protein binds the cajal body localization signal of scaRNP particles
    • Tycowski K.T., Shu M.D., Kukoyi A., Steitz J.A. A conserved wd40 protein binds the cajal body localization signal of scaRNP particles. Mol Cell 2009, 34:47-57.
    • (2009) Mol Cell , vol.34 , pp. 47-57
    • Tycowski, K.T.1    Shu, M.D.2    Kukoyi, A.3    Steitz, J.A.4
  • 42
    • 84864020175 scopus 로고    scopus 로고
    • Telomerase recruitment requires both TCAB1 and Cajal bodies independently
    • Stern J.L., Zyner K.G., Pickett H.A., Cohen S.B., Bryan T.M. Telomerase recruitment requires both TCAB1 and Cajal bodies independently. Mol Cell Biol 2012, 32:2384-2395.
    • (2012) Mol Cell Biol , vol.32 , pp. 2384-2395
    • Stern, J.L.1    Zyner, K.G.2    Pickett, H.A.3    Cohen, S.B.4    Bryan, T.M.5
  • 45
    • 39149115929 scopus 로고    scopus 로고
    • Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse
    • Stadtfeld M., Maherali N., Breault D.T., Hochedlinger K. Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse. Cell Stem Cell 2008, 2:230-240.
    • (2008) Cell Stem Cell , vol.2 , pp. 230-240
    • Stadtfeld, M.1    Maherali, N.2    Breault, D.T.3    Hochedlinger, K.4
  • 46
    • 84858791727 scopus 로고    scopus 로고
    • The genetics of dyskeratosis congenita
    • Mason P.J., Bessler M. The genetics of dyskeratosis congenita. Cancer Genet 2011, 204:635-645.
    • (2011) Cancer Genet , vol.204 , pp. 635-645
    • Mason, P.J.1    Bessler, M.2
  • 48
    • 33751072682 scopus 로고    scopus 로고
    • Telomerase rna level limits telomere maintenance in x-linked dyskeratosis congenita
    • Wong J.M., Collins K. Telomerase rna level limits telomere maintenance in x-linked dyskeratosis congenita. Genes Dev 2006, 20:2848-2858.
    • (2006) Genes Dev , vol.20 , pp. 2848-2858
    • Wong, J.M.1    Collins, K.2
  • 50
    • 84864607108 scopus 로고    scopus 로고
    • TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends
    • Zhong F.L., Batista L.F., Freund A., Pech M.F., Venteicher A.S., Artandi S.E. TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends. Cell 2012, 150:481-494.
    • (2012) Cell , vol.150 , pp. 481-494
    • Zhong, F.L.1    Batista, L.F.2    Freund, A.3    Pech, M.F.4    Venteicher, A.S.5    Artandi, S.E.6
  • 51
    • 84870980867 scopus 로고    scopus 로고
    • The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity
    • Nandakumar J., Bell C.F., Weidenfeld I., Zaug A.J., Leinwand L.A., Cech T.R. The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity. Nature 2012, 492:285-289.
    • (2012) Nature , vol.492 , pp. 285-289
    • Nandakumar, J.1    Bell, C.F.2    Weidenfeld, I.3    Zaug, A.J.4    Leinwand, L.A.5    Cech, T.R.6
  • 53
    • 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 A.J., Vulliamy T., Marrone A., Beswick R., Kirwan M., Masunari Y., Al-Qurashi F.H., Aljurf M., 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
  • 54
    • 40749085700 scopus 로고    scopus 로고
    • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage S.A., Giri N., Baerlocher G.M., Orr N., Lansdorp P.M., Alter B.P. 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
  • 55
    • 84876503523 scopus 로고    scopus 로고
    • Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita
    • Ballew B.J., Yeager M., Jacobs K., Giri N., Boland J., Burdett L., Alter B.P., Savage S.A. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum Genet 2013, 132:473-480.
    • (2013) Hum Genet , vol.132 , pp. 473-480
    • Ballew, B.J.1    Yeager, M.2    Jacobs, K.3    Giri, N.4    Boland, J.5    Burdett, L.6    Alter, B.P.7    Savage, S.A.8
  • 56
    • 84876410662 scopus 로고    scopus 로고
    • Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    • Walne A.J., Vulliamy T., Kirwan M., Plagnol V., Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013, 92:448-453.
    • (2013) Am J Hum Genet , vol.92 , pp. 448-453
    • Walne, A.J.1    Vulliamy, T.2    Kirwan, M.3    Plagnol, V.4    Dokal, I.5
  • 58
    • 84857769403 scopus 로고    scopus 로고
    • Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    • Alter B.P., Rosenberg P.S., Giri N., Baerlocher G.M., Lansdorp P.M., Savage S.A. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 2012, 97:353-359.
    • (2012) Haematologica , vol.97 , pp. 353-359
    • Alter, B.P.1    Rosenberg, P.S.2    Giri, N.3    Baerlocher, G.M.4    Lansdorp, P.M.5    Savage, S.A.6
  • 59
    • 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 P.J., 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.