-
1
-
-
0025731583
-
Structure and function of telomeres
-
Blackburn EH. Structure and function of telomeres. Nature. 1991; 350: 569-73.
-
(1991)
Nature.
, vol.350
, pp. 569-573
-
-
Blackburn, E.H.1
-
2
-
-
0013462065
-
A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes
-
Moyzis RK, Buckingham JM, Cram LS, et al A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA. 1988; 85: 6622-6.
-
(1988)
Proc Natl Acad Sci USA.
, vol.85
, pp. 6622-6626
-
-
Moyzis, R.K.1
Buckingham, J.M.2
Cram, L.S.3
-
3
-
-
0031000884
-
Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening
-
Makarov VL, Hirose Y, Langmore JP. Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening. Cell. 1997; 88: 657-66.
-
(1997)
Cell.
, vol.88
, pp. 657-666
-
-
Makarov, V.L.1
Hirose, Y.2
Langmore, J.P.3
-
4
-
-
0033553536
-
Mammalian telomeres end in a large duplex loop
-
Griffith JD, Comeau L, Rosenfield S, et al Mammalian telomeres end in a large duplex loop. Cell. 1999; 97: 503-14.
-
(1999)
Cell.
, vol.97
, pp. 503-514
-
-
Griffith, J.D.1
Comeau, L.2
Rosenfield, S.3
-
5
-
-
0242349890
-
Protecting the terminus: t-loops and telomere end-binding proteins
-
Wei C, Price M. Protecting the terminus: t-loops and telomere end-binding proteins. Cell Mol Life Sci. 2003; 60: 2283-94.
-
(2003)
Cell Mol Life Sci.
, vol.60
, pp. 2283-2294
-
-
Wei, C.1
Price, M.2
-
6
-
-
24944460598
-
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: 2100-10.
-
(2005)
Genes Dev.
, vol.19
, pp. 2100-2110
-
-
de Lange, T.1
-
7
-
-
67650221812
-
Chromosome end maintenance by telomerase
-
Osterhage JL, Friedman KL. Chromosome end maintenance by telomerase. J Biol Chem. 2009; 284: 16061-5.
-
(2009)
J Biol Chem.
, vol.284
, pp. 16061-16065
-
-
Osterhage, J.L.1
Friedman, K.L.2
-
8
-
-
14544277627
-
Telomeres and telomerase: their mechanisms of action and the effects of altering their functions
-
Blackburn EH. Telomeres and telomerase: their mechanisms of action and the effects of altering their functions. FEBS Lett. 2005; 579: 859-62.
-
(2005)
FEBS Lett.
, vol.579
, pp. 859-862
-
-
Blackburn, E.H.1
-
9
-
-
0024325562
-
The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats
-
Morin GB. The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats. Cell. 1989; 59: 521-9.
-
(1989)
Cell.
, vol.59
, pp. 521-529
-
-
Morin, G.B.1
-
10
-
-
0029096515
-
The RNA component of human telomerase
-
Feng J, Funk WD, Wang SS, et al The RNA component of human telomerase. Science. 1995; 269: 1236-41.
-
(1995)
Science.
, vol.269
, pp. 1236-1241
-
-
Feng, J.1
Funk, W.D.2
Wang, S.S.3
-
11
-
-
33745679352
-
Telomerase therapeutics for cancer: challenges and new directions
-
Shay JW, Wright WE. Telomerase therapeutics for cancer: challenges and new directions. Nat Rev Drug Discov. 2006; 5: 577-84.
-
(2006)
Nat Rev Drug Discov.
, vol.5
, pp. 577-584
-
-
Shay, J.W.1
Wright, W.E.2
-
12
-
-
70349815091
-
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies
-
Hills M, Lansdorp PM. Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies. Ann NY Acad Sci. 2009; 1176: 178-90.
-
(2009)
Ann NY Acad Sci.
, vol.1176
, pp. 178-190
-
-
Hills, M.1
Lansdorp, P.M.2
-
13
-
-
36749036591
-
Telomerase redefined: integrated regulation of hTR and hTERT for telomere maintenance and telomerase activity
-
Cairney CJ, Keith WN. Telomerase redefined: integrated regulation of hTR and hTERT for telomere maintenance and telomerase activity. Biochimie. 2008; 90: 13-23.
-
(2008)
Biochimie.
, vol.90
, pp. 13-23
-
-
Cairney, C.J.1
Keith, W.N.2
-
14
-
-
67749086830
-
Genetic and environmental factors influencing human diseases with telomere dysfunction
-
Ly H. Genetic and environmental factors influencing human diseases with telomere dysfunction. Int J Clin Exp Med. 2009; 2: 114-30.
-
(2009)
Int J Clin Exp Med.
, vol.2
, pp. 114-130
-
-
Ly, H.1
-
15
-
-
64249162002
-
Telomerase regulation in hematological cancers: a matter of stemness
-
Deville L, Hillion J, Segal-Bendirdjian E. Telomerase regulation in hematological cancers: a matter of stemness Biochim Biophys Acta. 2009; 1792: 229-39.
-
(2009)
Biochim Biophys Acta.
, vol.1792
, pp. 229-239
-
-
Deville, L.1
Hillion, J.2
Segal-Bendirdjian, E.3
-
17
-
-
5444238109
-
Genetic and epigenetic modulation of telomerase activity in development and disease
-
Liu L, Lai S, Andrews LG, et al Genetic and epigenetic modulation of telomerase activity in development and disease. Gene. 2004; 340: 1-10.
-
(2004)
Gene.
, vol.340
, pp. 1-10
-
-
Liu, L.1
Lai, S.2
Andrews, L.G.3
-
18
-
-
77953200263
-
hTERT promoter activity and CpG methylation in HPV-induced carcinogenesis
-
de Wilde J, Kooter JM, Overmeer RM, et al hTERT promoter activity and CpG methylation in HPV-induced carcinogenesis. BMC Cancer. 2010; 10: 271.
-
(2010)
BMC Cancer
, vol.10
, pp. 271
-
-
de Wilde, J.1
Kooter, J.M.2
Overmeer, R.M.3
-
19
-
-
49749139661
-
Understanding and exploiting hTERT promoter regulation for diagnosis and treatment of human cancers
-
Kyo S, Takakura M, Fujiwara T, et al Understanding and exploiting hTERT promoter regulation for diagnosis and treatment of human cancers. Cancer Sci. 2008; 99: 1528-38.
-
(2008)
Cancer Sci.
, vol.99
, pp. 1528-1538
-
-
Kyo, S.1
Takakura, M.2
Fujiwara, T.3
-
20
-
-
64549090104
-
Epigenetic regulation of hTERT promoter in hepatocellular carcinomas
-
Iliopoulos D, Satra M, Drakaki A, et al Epigenetic regulation of hTERT promoter in hepatocellular carcinomas. Int J Oncol. 2009; 34: 391-9.
-
(2009)
Int J Oncol.
, vol.34
, pp. 391-399
-
-
Iliopoulos, D.1
Satra, M.2
Drakaki, A.3
-
21
-
-
72949108868
-
hTERT methylation and expression in gastric cancer
-
Gigek CO, Leal MF, Silva PN, et al hTERT methylation and expression in gastric cancer. Biomarkers. 2009; 14: 630-6.
-
(2009)
Biomarkers.
, vol.14
, pp. 630-636
-
-
Gigek, C.O.1
Leal, M.F.2
Silva, P.N.3
-
22
-
-
33846422373
-
hTERT is expressed in cancer cell lines despite promoter DNA methylation by preservation of unmethylated DNA and active chromatin around the transcription start site
-
Zinn RL, Pruitt K, Eguchi S, et al hTERT is expressed in cancer cell lines despite promoter DNA methylation by preservation of unmethylated DNA and active chromatin around the transcription start site. Cancer Res. 2007; 67: 194-201.
-
(2007)
Cancer Res.
, vol.67
, pp. 194-201
-
-
Zinn, R.L.1
Pruitt, K.2
Eguchi, S.3
-
23
-
-
77949425494
-
Epigenetic plasticity of hTERT gene promoter determines retinoid capacity to repress telomerase in maturation-resistant acute promyelocytic leukemia cells
-
Azouz A, Wu YL, Hillion J, et al Epigenetic plasticity of hTERT gene promoter determines retinoid capacity to repress telomerase in maturation-resistant acute promyelocytic leukemia cells. Leukemia. 2010; 24: 613-22.
-
(2010)
Leukemia.
, vol.24
, pp. 613-622
-
-
Azouz, A.1
Wu, Y.L.2
Hillion, J.3
-
24
-
-
77049094890
-
Chromatin regulation and non-coding RNAs at mammalian telomeres
-
Schoeftner S, Blasco MA. Chromatin regulation and non-coding RNAs at mammalian telomeres. Semin Cell Dev Biol. 2010; 21: 186-93.
-
(2010)
Semin Cell Dev Biol.
, vol.21
, pp. 186-193
-
-
Schoeftner, S.1
Blasco, M.A.2
-
25
-
-
46249125488
-
How shelterin protects mammalian telomeres
-
Palm W, de Lange T. How shelterin protects mammalian telomeres. Annu Rev Genet. 2008; 42: 301-34.
-
(2008)
Annu Rev Genet.
, vol.42
, pp. 301-334
-
-
Palm, W.1
de Lange, T.2
-
26
-
-
78349270933
-
Role of shelterin in cancer and aging
-
Martinez P, Blasco MA. Role of shelterin in cancer and aging. Aging Cell. 2010; 9: 653-66.
-
(2010)
Aging Cell.
, vol.9
, pp. 653-666
-
-
Martinez, P.1
Blasco, M.A.2
-
27
-
-
62549122535
-
Telomerase activity is associated with an increase in DNA methylation at the proximal subtelomere and a reduction in telomeric transcription
-
Ng LJ, Cropley JE, Pickett HA, et al Telomerase activity is associated with an increase in DNA methylation at the proximal subtelomere and a reduction in telomeric transcription. Nucleic Acids Res. 2009; 37: 1152-9.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 1152-1159
-
-
Ng, L.J.1
Cropley, J.E.2
Pickett, H.A.3
-
28
-
-
36749043110
-
Alternative lengthening of telomeres (ALT) and chromatin: is there a connection
-
Nittis T, Guittat L, Stewart SA. Alternative lengthening of telomeres (ALT) and chromatin: is there a connection Biochimie. 2008; 90: 5-12.
-
(2008)
Biochimie.
, vol.90
, pp. 5-12
-
-
Nittis, T.1
Guittat, L.2
Stewart, S.A.3
-
29
-
-
77949887506
-
Mammalian sirtuins: biological insights and disease relevance
-
Haigis MC, Sinclair DA. Mammalian sirtuins: biological insights and disease relevance. Annu Rev Pathol. 2010; 5: 253-95.
-
(2010)
Annu Rev Pathol.
, vol.5
, pp. 253-295
-
-
Haigis, M.C.1
Sinclair, D.A.2
-
30
-
-
0037821661
-
Multiple tumor suppressor pathways negatively regulate telomerase
-
Lin SY, Elledge SJ. Multiple tumor suppressor pathways negatively regulate telomerase. Cell. 2003; 113: 881-9.
-
(2003)
Cell.
, vol.113
, pp. 881-889
-
-
Lin, S.Y.1
Elledge, S.J.2
-
31
-
-
41649094992
-
SIRT1 acts as a nutrient-sensitive growth suppressor and its loss is associated with increased AMPK and telomerase activity
-
Narala SR, Allsopp RC, Wells TB, et al SIRT1 acts as a nutrient-sensitive growth suppressor and its loss is associated with increased AMPK and telomerase activity. Mol Biol Cell. 2008; 19: 1210-9.
-
(2008)
Mol Biol Cell.
, vol.19
, pp. 1210-1219
-
-
Narala, S.R.1
Allsopp, R.C.2
Wells, T.B.3
-
32
-
-
77954748610
-
Dual regulation of TERT activity through transcription and splicing by DeltaNP63alpha
-
Vorovich E, Ratovitski EA. Dual regulation of TERT activity through transcription and splicing by DeltaNP63alpha. Aging. 2009; 1: 58-67.
-
(2009)
Aging.
, vol.1
, pp. 58-67
-
-
Vorovich, E.1
Ratovitski, E.A.2
-
33
-
-
77953480631
-
Biochemical effects of SIRT1 activators
-
Baur JA. Biochemical effects of SIRT1 activators. Biochim Biophys Acta. 2010; 1804: 1626-34.
-
(2010)
Biochim Biophys Acta.
, vol.1804
, pp. 1626-1634
-
-
Baur, J.A.1
-
34
-
-
33751072349
-
Resveratrol improves health and survival of mice on a high-calorie diet
-
Baur JA, Pearson KJ, Price NL, et al Resveratrol improves health and survival of mice on a high-calorie diet. Nature. 2006; 444: 337-42.
-
(2006)
Nature.
, vol.444
, pp. 337-342
-
-
Baur, J.A.1
Pearson, K.J.2
Price, N.L.3
-
35
-
-
42049085145
-
Immortalization of epithelial progenitor cells mediated by resveratrol
-
Pearce VP, Sherrell J, Lou Z, et al Immortalization of epithelial progenitor cells mediated by resveratrol. Oncogene. 2008; 27: 2365-74.
-
(2008)
Oncogene.
, vol.27
, pp. 2365-2374
-
-
Pearce, V.P.1
Sherrell, J.2
Lou, Z.3
-
36
-
-
33645234909
-
Resveratrol down-regulates the growth and telomerase activity of breast cancer cells in vitro
-
Lanzilli G, Fuggetta MP, Tricarico M, et al Resveratrol down-regulates the growth and telomerase activity of breast cancer cells in vitro. Int J Oncol. 2006; 28: 641-8.
-
(2006)
Int J Oncol.
, vol.28
, pp. 641-648
-
-
Lanzilli, G.1
Fuggetta, M.P.2
Tricarico, M.3
-
37
-
-
33750370444
-
MicroRNA signatures in human cancers
-
Calin GA, Croce CM. MicroRNA signatures in human cancers. Nat Rev Cancer. 2006; 6: 857-66.
-
(2006)
Nat Rev Cancer.
, vol.6
, pp. 857-866
-
-
Calin, G.A.1
Croce, C.M.2
-
38
-
-
70350128013
-
MicroRNA profiling of BRCA1/2 mutation-carrying and non-mutation-carrying high-grade serous carcinomas of ovary
-
Lee CH, Subramanian S, Beck AH, et al MicroRNA profiling of BRCA1/2 mutation-carrying and non-mutation-carrying high-grade serous carcinomas of ovary. PLoS One. 2009; 4: 1-11.
-
(2009)
PLoS One.
, vol.4
, pp. 1-11
-
-
Lee, C.H.1
Subramanian, S.2
Beck, A.H.3
-
39
-
-
50849137458
-
MicroRNA expression profiles in serous ovarian carcinoma
-
Nam EJ, Yoon H, Kim SW, et al MicroRNA expression profiles in serous ovarian carcinoma. Clin Cancer Res. 2008; 14: 2690-5.
-
(2008)
Clin Cancer Res.
, vol.14
, pp. 2690-2695
-
-
Nam, E.J.1
Yoon, H.2
Kim, S.W.3
-
40
-
-
77957583739
-
Small molecules with big effects: the role of the microRNAome in cancer and carcinogenesis
-
Koturbash I, Zemp FJ, Pogribny I, et al Small molecules with big effects: the role of the microRNAome in cancer and carcinogenesis. Mutat Res. 2010. DOI: .
-
(2010)
Mutat Res
-
-
Koturbash, I.1
Zemp, F.J.2
Pogribny, I.3
-
41
-
-
38949168082
-
Downregulation of miR-138 is associated with overexpression of human telomerase reverse transcriptase protein in human anaplastic thyroid carcinoma cell lines
-
Mitomo S, Maesawa C, Ogasawara S, et al Downregulation of miR-138 is associated with overexpression of human telomerase reverse transcriptase protein in human anaplastic thyroid carcinoma cell lines. Cancer Sci. 2008; 99: 280-6.
-
(2008)
Cancer Sci.
, vol.99
, pp. 280-286
-
-
Mitomo, S.1
Maesawa, C.2
Ogasawara, S.3
-
42
-
-
33746923402
-
Immunodetection of human telomerase reverse-transcriptase (hTERT) re-appraised: nucleolin and telomerase cross paths
-
Wu YL, Dudognon C, Nguyen E, et al Immunodetection of human telomerase reverse-transcriptase (hTERT) re-appraised: nucleolin and telomerase cross paths. J Cell Sci. 2006; 119: 2797-806.
-
(2006)
J Cell Sci.
, vol.119
, pp. 2797-2806
-
-
Wu, Y.L.1
Dudognon, C.2
Nguyen, E.3
-
43
-
-
63749117559
-
A noncoding RNA gene on chromosome 10p15.3 may function upstream of hTERT
-
Miura N, Sato R, Tsukamoto T, et al A noncoding RNA gene on chromosome 10p15.3 may function upstream of hTERT. BMC Mol Biol. 2009; 10: 1-16.
-
(2009)
BMC Mol Biol.
, vol.10
, pp. 1-16
-
-
Miura, N.1
Sato, R.2
Tsukamoto, T.3
-
44
-
-
0028105092
-
Evidence for multiple pathways to cellular senescence
-
Sasaki M, Honda T, Yamada H, et al Evidence for multiple pathways to cellular senescence. Cancer Res. 1994; 54: 6090-3.
-
(1994)
Cancer Res.
, vol.54
, pp. 6090-6093
-
-
Sasaki, M.1
Honda, T.2
Yamada, H.3
-
45
-
-
34047258036
-
Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays
-
Stark M, Hayward N. Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays. Cancer Res. 2007; 67: 2632-42.
-
(2007)
Cancer Res.
, vol.67
, pp. 2632-2642
-
-
Stark, M.1
Hayward, N.2
-
46
-
-
0028969962
-
Two tumor suppressive loci on chromosome 10 involved in human glioblastomas
-
Steck PA, Ligon AH, Cheong P, et al Two tumor suppressive loci on chromosome 10 involved in human glioblastomas. Genes Chromosomes Cancer. 1995; 12: 255-61.
-
(1995)
Genes Chromosomes Cancer.
, vol.12
, pp. 255-261
-
-
Steck, P.A.1
Ligon, A.H.2
Cheong, P.3
-
47
-
-
37349043972
-
Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends
-
Azzalin CM, Reichenbach P, Khoriauli L, et al Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. Science. 2007; 318: 798-801.
-
(2007)
Science.
, vol.318
, pp. 798-801
-
-
Azzalin, C.M.1
Reichenbach, P.2
Khoriauli, L.3
-
48
-
-
38849111756
-
Developmentally regulated transcription of mammalian telomeres by DNA-dependent RNA polymerase II
-
Schoeftner S, Blasco MA. Developmentally regulated transcription of mammalian telomeres by DNA-dependent RNA polymerase II. Nat Cell Biol. 2008; 10: 228-36.
-
(2008)
Nat Cell Biol.
, vol.10
, pp. 228-236
-
-
Schoeftner, S.1
Blasco, M.A.2
-
49
-
-
44349168303
-
Telomeres: the silence is broken
-
Azzalin CM, Lingner J. Telomeres: the silence is broken. Cell Cycle. 2008; 7: 1161-5.
-
(2008)
Cell Cycle.
, vol.7
, pp. 1161-1165
-
-
Azzalin, C.M.1
Lingner, J.2
-
50
-
-
85011937494
-
Transcriptional regulation of telomeric non-coding RNA: implications on telomere biology, replicative senescence and cancer
-
Caslini C. Transcriptional regulation of telomeric non-coding RNA: implications on telomere biology, replicative senescence and cancer. RNA Biol. 2010; 7: 18-22.
-
(2010)
RNA Biol.
, vol.7
, pp. 18-22
-
-
Caslini, C.1
-
51
-
-
69849104275
-
TERRA: telomeric repeat-containing RNA
-
Luke B, Lingner J. TERRA: telomeric repeat-containing RNA. EMBO J. 2009; 28: 2503-10.
-
(2009)
EMBO J.
, vol.28
, pp. 2503-2510
-
-
Luke, B.1
Lingner, J.2
-
52
-
-
68949141617
-
MLL associates with telomeres and regulates telomeric repeat-containing RNA transcription
-
Caslini C, Connelly JA, Serna A, et al MLL associates with telomeres and regulates telomeric repeat-containing RNA transcription. Mol Cell Biol. 2009; 29: 4519-26.
-
(2009)
Mol Cell Biol.
, vol.29
, pp. 4519-4526
-
-
Caslini, C.1
Connelly, J.A.2
Serna, A.3
-
53
-
-
67650264860
-
Telomere dysfunction in human diseases: the long and short of it
-
Carroll KA, Ly H. Telomere dysfunction in human diseases: the long and short of it Int J Clin Exp Pathol. 2009; 2: 528-43.
-
(2009)
Int J Clin Exp Pathol.
, vol.2
, pp. 528-543
-
-
Carroll, K.A.1
Ly, H.2
-
54
-
-
0033362103
-
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
-
Knight SW, Heiss NS, Vulliamy TJ, et al X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet. 1999; 65: 50-8.
-
(1999)
Am J Hum Genet.
, vol.65
, pp. 50-58
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
55
-
-
33645508898
-
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
-
Vulliamy TJ, Marrone A, Knight SW, et al Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006; 107: 2680-5.
-
(2006)
Blood.
, vol.107
, pp. 2680-2685
-
-
Vulliamy, T.J.1
Marrone, A.2
Knight, S.W.3
-
56
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000; 110: 768-79.
-
(2000)
Br J Haematol.
, vol.110
, pp. 768-779
-
-
Dokal, I.1
-
57
-
-
74849131327
-
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita
-
Rostamiani K, Klauck SM, Heiss N, et al Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Mol Dis. 2010; 44: 88.
-
(2010)
Blood Cells Mol Dis
, vol.44
, pp. 88
-
-
Rostamiani, K.1
Klauck, S.M.2
Heiss, N.3
-
58
-
-
38949103402
-
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene
-
Du HY, Pumbo E, Manley P, et al Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood. 2008; 111: 1128-30.
-
(2008)
Blood.
, vol.111
, pp. 1128-1130
-
-
Du, H.Y.1
Pumbo, E.2
Manley, P.3
-
59
-
-
33846197372
-
Functional characterization of natural telomerase mutations found in patients with hematologic disorders
-
Xin ZT, Beauchamp AD, Calado RT, et al Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood. 2007; 109: 524-32.
-
(2007)
Blood.
, vol.109
, pp. 524-532
-
-
Xin, Z.T.1
Beauchamp, A.D.2
Calado, R.T.3
-
60
-
-
10244222239
-
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
-
Marrone A, Stevens D, Vulliamy T, et al Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood. 2004; 104: 3936-42.
-
(2004)
Blood.
, vol.104
, pp. 3936-3942
-
-
Marrone, A.1
Stevens, D.2
Vulliamy, T.3
-
61
-
-
23744511264
-
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, et al Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Blood. 2005; 106: 1246-52.
-
(2005)
Blood.
, vol.106
, pp. 1246-1252
-
-
Ly, H.1
Schertzer, M.2
Jastaniah, W.3
-
62
-
-
2442617343
-
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
-
Vulliamy T, Marrone A, Szydlo R, et al Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet. 2004; 36: 447-9.
-
(2004)
Nat Genet.
, vol.36
, pp. 447-449
-
-
Vulliamy, T.1
Marrone, A.2
Szydlo, R.3
-
63
-
-
0344851536
-
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
-
Fogarty PF, Yamaguchi H, Wiestner A, et al Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet. 2003; 362: 1628-30.
-
(2003)
Lancet.
, vol.362
, pp. 1628-1630
-
-
Fogarty, P.F.1
Yamaguchi, H.2
Wiestner, A.3
-
64
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy T, Marrone A, Goldman F, et al The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001; 413: 432-5.
-
(2001)
Nature.
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
-
65
-
-
77955505750
-
Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia
-
Aspesi A, Vallero S, Rocci A, et al Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia. Pediatr Blood Cancer. 2010; 55: 550-3.
-
(2010)
Pediatr Blood Cancer.
, vol.55
, pp. 550-553
-
-
Aspesi, A.1
Vallero, S.2
Rocci, A.3
-
66
-
-
15944422499
-
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
-
Yamaguchi H, Calado RT, Ly H, et al Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352: 1413-24.
-
(2005)
N Engl J Med.
, vol.352
, pp. 1413-1424
-
-
Yamaguchi, H.1
Calado, R.T.2
Ly, H.3
-
67
-
-
33744497036
-
Mutations in telomerase catalytic protein in Japanese children with aplastic anemia
-
Liang J, Yagasaki H, Kamachi Y, et al Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica. 2006; 91: 656-8.
-
(2006)
Haematologica.
, vol.91
, pp. 656-658
-
-
Liang, J.1
Yagasaki, H.2
Kamachi, Y.3
-
68
-
-
0037157582
-
Association between aplastic anaemia and mutations in telomerase RNA
-
Vulliamy T, Marrone A, Dokal I, et al Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002; 359: 2168-70.
-
(2002)
Lancet.
, vol.359
, pp. 2168-2170
-
-
Vulliamy, T.1
Marrone, A.2
Dokal, I.3
-
69
-
-
15244358401
-
Functional characterization of telomerase RNA variants found in patients with hematologic disorders
-
Ly H, Calado RT, Allard P, et al Functional characterization of telomerase RNA variants found in patients with hematologic disorders. Blood. 2005; 105: 2332-9.
-
(2005)
Blood.
, vol.105
, pp. 2332-2339
-
-
Ly, H.1
Calado, R.T.2
Allard, P.3
-
70
-
-
0041592752
-
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
-
Yamaguchi H, Baerlocher GM, Lansdorp PM, et al Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003; 102: 916-8.
-
(2003)
Blood.
, vol.102
, pp. 916-918
-
-
Yamaguchi, H.1
Baerlocher, G.M.2
Lansdorp, P.M.3
-
71
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
Tsakiri KD, Cronkhite JT, Kuan PJ, et al Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA. 2007; 104: 7552-7.
-
(2007)
Proc Natl Acad Sci USA.
, vol.104
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
-
72
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
Armanios MY, Chen JJ, Cogan JD, et al Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007; 356: 1317-26.
-
(2007)
N Engl J Med.
, vol.356
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
-
73
-
-
54049136464
-
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
-
Mushiroda T, Wattanapokayakit S, Takahashi A, et al A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet. 2008; 45: 654-6.
-
(2008)
J Med Genet.
, vol.45
, pp. 654-656
-
-
Mushiroda, T.1
Wattanapokayakit, S.2
Takahashi, A.3
-
74
-
-
77951237385
-
The N-terminus of hTERT contains a DNA-binding domain and is required for telomerase activity and cellular immortalization
-
Sealey DC, Zheng L, Taboski MA, et al The N-terminus of hTERT contains a DNA-binding domain and is required for telomerase activity and cellular immortalization. Nucleic Acids Res. 2010; 38: 2019-35.
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. 2019-2035
-
-
Sealey, D.C.1
Zheng, L.2
Taboski, M.A.3
-
75
-
-
34147194788
-
Characterization of physical and functional anchor site interactions in human telomerase
-
Wyatt HD, Lobb DA, Beattie TL. Characterization of physical and functional anchor site interactions in human telomerase. Mol Cell Biol. 2007; 27: 3226-40.
-
(2007)
Mol Cell Biol.
, vol.27
, pp. 3226-3240
-
-
Wyatt, H.D.1
Lobb, D.A.2
Beattie, T.L.3
-
76
-
-
72749119233
-
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations
-
Ashbridge B, Orte A, Yeoman JA, et al Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. Biochemistry. 2009; 48: 10858-65.
-
(2009)
Biochemistry.
, vol.48
, pp. 10858-10865
-
-
Ashbridge, B.1
Orte, A.2
Yeoman, J.A.3
-
77
-
-
77951178977
-
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants
-
Robart AR, Collins K. Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. J Biol Chem. 2010; 285: 4375-86.
-
(2010)
J Biol Chem.
, vol.285
, pp. 4375-4386
-
-
Robart, A.R.1
Collins, K.2
-
78
-
-
36749012920
-
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex
-
Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008; 90: 122-30.
-
(2008)
Biochimie.
, vol.90
, pp. 122-130
-
-
Vulliamy, T.J.1
Dokal, I.2
-
79
-
-
41149087836
-
Inherited aplastic anaemias/bone marrow failure syndromes
-
Dokal I, Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev. 2008; 22: 141-53.
-
(2008)
Blood Rev.
, vol.22
, pp. 141-153
-
-
Dokal, I.1
Vulliamy, T.2
-
80
-
-
77955487110
-
Variation at the TERT locus and predisposition for cancer
-
Baird DM. Variation at the TERT locus and predisposition for cancer. Expert Rev Mol Med. 2010; 12: 1-21.
-
(2010)
Expert Rev Mol Med.
, vol.12
, pp. 1-21
-
-
Baird, D.M.1
-
82
-
-
69949085736
-
Telomeres and disease
-
Lansdorp PM. Telomeres and disease. EMBO J. 2009; 28: 2532-40.
-
(2009)
EMBO J.
, vol.28
, pp. 2532-2540
-
-
Lansdorp, P.M.1
-
83
-
-
60749111467
-
Dyskerin, telomerase and the DNA damage response
-
Gu B, Bessler M, Mason PJ. Dyskerin, telomerase and the DNA damage response. Cell Cycle. 2009; 8: 6-10.
-
(2009)
Cell Cycle.
, vol.8
, pp. 6-10
-
-
Gu, B.1
Bessler, M.2
Mason, P.J.3
-
84
-
-
0035002944
-
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
-
Knight SW, Vulliamy TJ, Morgan B, et al 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
-
85
-
-
67650079362
-
Syndromes of telomere shortening
-
Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet. 2009; 10: 45-61.
-
(2009)
Annu Rev Genomics Hum Genet.
, vol.10
, pp. 45-61
-
-
Armanios, M.1
-
86
-
-
51349113450
-
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
-
Alder JK, Chen JJ, Lancaster L, et al Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci USA. 2008; 105: 13051-6.
-
(2008)
Proc Natl Acad Sci USA.
, vol.105
, pp. 13051-13056
-
-
Alder, J.K.1
Chen, J.J.2
Lancaster, L.3
-
87
-
-
59049087610
-
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia
-
Calado RT, Regal JA, Hills M, et al Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci USA. 2009; 106: 1187-92.
-
(2009)
Proc Natl Acad Sci USA.
, vol.106
, pp. 1187-1192
-
-
Calado, R.T.1
Regal, J.A.2
Hills, M.3
-
88
-
-
42949142189
-
Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia
-
Schlenk RF, Dohner K, Krauter J, et al Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008; 358: 1909-18.
-
(2008)
N Engl J Med.
, vol.358
, pp. 1909-1918
-
-
Schlenk, R.F.1
Dohner, K.2
Krauter, J.3
-
89
-
-
70350721794
-
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
-
Kirwan M, Vulliamy T, Marrone A, et al Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat. 2009; 30: 1567-73.
-
(2009)
Hum Mutat.
, vol.30
, pp. 1567-1573
-
-
Kirwan, M.1
Vulliamy, T.2
Marrone, A.3
-
90
-
-
34548588392
-
Genetic variation in five genes important in telomere biology and risk for breast cancer
-
Savage SA, Chanock SJ, Lissowska J, et al Genetic variation in five genes important in telomere biology and risk for breast cancer. Br J Cancer. 2007; 97: 832-6.
-
(2007)
Br J Cancer.
, vol.97
, pp. 832-836
-
-
Savage, S.A.1
Chanock, S.J.2
Lissowska, J.3
-
91
-
-
38949123329
-
Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes
-
Takeuchi J, Ly H, Yamaguchi H, et al Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes. Blood Cells Mol Dis. 2008; 40: 185-91.
-
(2008)
Blood Cells Mol Dis.
, vol.40
, pp. 185-191
-
-
Takeuchi, J.1
Ly, H.2
Yamaguchi, H.3
-
92
-
-
70349310232
-
Rearrangement of upstream sequences of the hTERT gene during cellular immortalization
-
Zhao Y, Wang S, Popova EY, et al Rearrangement of upstream sequences of the hTERT gene during cellular immortalization. Genes, Chromosomes Cancer. 2009; 48: 963-74.
-
(2009)
Genes, Chromosomes Cancer.
, vol.48
, pp. 963-974
-
-
Zhao, Y.1
Wang, S.2
Popova, E.Y.3
-
93
-
-
77649179766
-
Common variants near TERC are associated with mean telomere length
-
Codd V, Mangino M, van der Harst P, et al Common variants near TERC are associated with mean telomere length. Nat Genet. 2010; 42: 197-9.
-
(2010)
Nat Genet.
, vol.42
, pp. 197-199
-
-
Codd, V.1
Mangino, M.2
van der Harst, P.3
-
94
-
-
77956291006
-
The association of telomere length and genetic variation in telomere biology genes
-
Mirabello L, Yu K, Kraft P, et al The association of telomere length and genetic variation in telomere biology genes. Human Mutat. 2010; 31: 1050-8.
-
(2010)
Human Mutat.
, vol.31
, pp. 1050-1058
-
-
Mirabello, L.1
Yu, K.2
Kraft, P.3
-
95
-
-
64549147054
-
A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer
-
Varadi V, Brendle A, Grzybowska E, et al A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer. Cancer Genet Cytogenet. 2009; 190: 71-4.
-
(2009)
Cancer Genet Cytogenet.
, vol.190
, pp. 71-74
-
-
Varadi, V.1
Brendle, A.2
Grzybowska, E.3
-
96
-
-
70350589292
-
Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis
-
Varadi V, Brendle A, Brandt A, et al Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. Eur J Cancer. 2009; 45: 3008-16.
-
(2009)
Eur J Cancer.
, vol.45
, pp. 3008-3016
-
-
Varadi, V.1
Brendle, A.2
Brandt, A.3
-
97
-
-
77954522715
-
No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk
-
Pooley KA, Tyrer J, Shah M, et al No association between TERT-CLPTM1L single nucleotide polymorphism rs401681 and mean telomere length or cancer risk. Cancer Epidemiol Biomarkers Prev. 2010; 19: 1862-5.
-
(2010)
Cancer Epidemiol Biomarkers Prev.
, vol.19
, pp. 1862-1865
-
-
Pooley, K.A.1
Tyrer, J.2
Shah, M.3
-
98
-
-
78149273493
-
Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck
-
Liu Z, Li G, Wei S, et al Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck. Carcinogenesis. 2010; 31: 1977-81.
-
(2010)
Carcinogenesis.
, vol.31
, pp. 1977-1981
-
-
Liu, Z.1
Li, G.2
Wei, S.3
-
99
-
-
77649188501
-
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33
-
Petersen GM, Amundadottir L, Fuchs CS, et al A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet. 2010; 42: 224-8.
-
(2010)
Nat Genet.
, vol.42
, pp. 224-228
-
-
Petersen, G.M.1
Amundadottir, L.2
Fuchs, C.S.3
-
100
-
-
77957551804
-
The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia
-
Hsiung CA, Lan Q, Hong YC, et al The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. PLoS Genet. 2010; 6: 1-9.
-
(2010)
PLoS Genet.
, vol.6
, pp. 1-9
-
-
Hsiung, C.A.1
Lan, Q.2
Hong, Y.C.3
-
101
-
-
66749114836
-
Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population
-
Jin G, Xu L, Shu Y, et al Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population. Carcinogenesis. 2009; 30: 987-90.
-
(2009)
Carcinogenesis.
, vol.30
, pp. 987-990
-
-
Jin, G.1
Xu, L.2
Shu, Y.3
-
102
-
-
77952299453
-
Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes
-
Kohno T, Kunitoh H, Shimada Y, et al Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. Carcinogenesis. 2010; 31: 834-41.
-
(2010)
Carcinogenesis.
, vol.31
, pp. 834-841
-
-
Kohno, T.1
Kunitoh, H.2
Shimada, Y.3
-
103
-
-
77649198921
-
Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers
-
Wang Y, Broderick P, Matakidou A, et al Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Carcinogenesis. 2010; 31: 234-8.
-
(2010)
Carcinogenesis.
, vol.31
, pp. 234-238
-
-
Wang, Y.1
Broderick, P.2
Matakidou, A.3
-
104
-
-
69449090136
-
The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
-
Zienolddiny S, Skaug V, Landvik NE, et al The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung. Carcinogenesis. 2009; 30: 1368-71.
-
(2009)
Carcinogenesis.
, vol.30
, pp. 1368-1371
-
-
Zienolddiny, S.1
Skaug, V.2
Landvik, N.E.3
-
105
-
-
77954869983
-
Short rare hTERT-VNTR2-2nd alleles are associated with prostate cancer susceptibility and influence gene expression
-
Yoon SL, Jung SI, Do EJ, et al Short rare hTERT-VNTR2-2nd alleles are associated with prostate cancer susceptibility and influence gene expression. BMC Cancer. 2010; 10: 1-10.
-
(2010)
BMC Cancer.
, vol.10
, pp. 1-10
-
-
Yoon, S.L.1
Jung, S.I.2
Do, E.J.3
-
106
-
-
59149091340
-
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
-
Rafnar T, Sulem P, Stacey SN, et al Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009; 41: 221-7.
-
(2009)
Nat Genet.
, vol.41
, pp. 221-227
-
-
Rafnar, T.1
Sulem, P.2
Stacey, S.N.3
-
107
-
-
67349189007
-
Bladder cancer SNP panel predicts susceptibility and survival
-
Andrew AS, Gui J, Sanderson AC, et al Bladder cancer SNP panel predicts susceptibility and survival. Hum Genet. 2009; 125: 527-39.
-
(2009)
Hum Genet.
, vol.125
, pp. 527-539
-
-
Andrew, A.S.1
Gui, J.2
Sanderson, A.C.3
-
108
-
-
77957575149
-
Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"
-
Johnatty SE, Beesley J, Chen X, et al Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". PLoS Genet. 2010; 6: 1-10.
-
(2010)
PLoS Genet.
, vol.6
, pp. 1-10
-
-
Johnatty, S.E.1
Beesley, J.2
Chen, X.3
|