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Volumn 106, Issue 4, 2009, Pages 1187-1192

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

Author keywords

Cancer; Dyskeratosis congenita; Risk factor; Telomere

Indexed keywords

TELOMERASE;

EID: 59049087610     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0807057106     Document Type: Article
Times cited : (154)

References (36)
  • 1
    • 0035929353 scopus 로고    scopus 로고
    • Switching and signaling at the telomere
    • Blackburn EH (2001) Switching and signaling at the telomere. Cell 106:661-673.
    • (2001) Cell , vol.106 , pp. 661-673
    • Blackburn, E.H.1
  • 2
    • 0015515155 scopus 로고
    • Origin of concatemeric T7 DNA
    • Watson JD (1972) Origin of concatemeric T7 DNA. Nat New Biol 239:197-201.
    • (1972) Nat New Biol , vol.239 , pp. 197-201
    • Watson, J.D.1
  • 3
    • 41349096243 scopus 로고    scopus 로고
    • Telomeres, stem cells, and hematology
    • Lansdorp PM (2008) Telomeres, stem cells, and hematology. Blood 111:1759-1766.
    • (2008) Blood , vol.111 , pp. 1759-1766
    • Lansdorp, P.M.1
  • 4
    • 47149112001 scopus 로고    scopus 로고
    • Telomere maintenance and human bone marrow failure
    • Calado RT, Young NS (2008) Telomere maintenance and human bone marrow failure. Blood 111:4446-4455.
    • (2008) Blood , vol.111 , pp. 4446-4455
    • Calado, R.T.1    Young, N.S.2
  • 5
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss NS, et al. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19:32-38.
    • (1998) Nat Genet , vol.19 , pp. 32-38
    • Heiss, N.S.1
  • 6
    • 18844421369 scopus 로고    scopus 로고
    • Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
    • Vulliamy T, et al. (2005) Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 34:257-263.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 257-263
    • Vulliamy, T.1
  • 7
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, et al. (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413:432-435.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1
  • 8
    • 40749085700 scopus 로고    scopus 로고
    • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage SA, et al. (2008) TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 82:501-509.
    • (2008) Am J Hum Genet , vol.82 , pp. 501-509
    • Savage, S.A.1
  • 9
    • 15944422499 scopus 로고    scopus 로고
    • Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
    • Yamaguchi H, et al. (2005) Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Eng J Med 352:1413-1424.
    • (2005) N Eng J Med , vol.352 , pp. 1413-1424
    • Yamaguchi, H.1
  • 10
    • 15244358401 scopus 로고    scopus 로고
    • Functional characterization of telomerase RNA variants found in patients with hematological disorders
    • Ly H, et al. (2005) Functional characterization of telomerase RNA variants found in patients with hematological disorders. Blood 105:2332-2339.
    • (2005) Blood , vol.105 , pp. 2332-2339
    • Ly, H.1
  • 11
    • 0344851536 scopus 로고    scopus 로고
    • Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
    • Fogarty PF, et al. (2003) Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 362:1628-1630.
    • (2003) Lancet , vol.362 , pp. 1628-1630
    • Fogarty, P.F.1
  • 12
    • 34047188508 scopus 로고    scopus 로고
    • Telomerase mutations in families with idiopathic pulmonary fibrosis
    • Armanios MY, et al. (2007) Telomerase mutations in families with idiopathic pulmonary fibrosis. N Eng J Med 356(13):1317-1326.
    • (2007) N Eng J Med , vol.356 , Issue.13 , pp. 1317-1326
    • Armanios, M.Y.1
  • 13
    • 34250614359 scopus 로고    scopus 로고
    • Adult-onset pulmonary fibrosis caused by mutations in telomerase
    • Tsakiri KD, et al. (2007) Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 104:7552-7557.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 7552-7557
    • Tsakiri, K.D.1
  • 14
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I (2000) Dyskeratosis congenita in all its forms. Br J Haematol 110:768-779.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 15
    • 33750628439 scopus 로고    scopus 로고
    • Current concepts in the pathophysiology and treatment of aplastic anemia
    • Young NS, Calado RT, Scheinberg P (2006) Current concepts in the pathophysiology and treatment of aplastic anemia. Blood 108:2511-2521.
    • (2006) Blood , vol.108 , pp. 2511-2521
    • Young, N.S.1    Calado, R.T.2    Scheinberg, P.3
  • 16
    • 33846197372 scopus 로고    scopus 로고
    • Functional characterization of natural telomerase mutations found in patients with hematological disorders
    • Xin ZT, et al. (2007) Functional characterization of natural telomerase mutations found in patients with hematological disorders. Blood 109:524-532.
    • (2007) Blood , vol.109 , pp. 524-532
    • Xin, Z.T.1
  • 17
    • 33751267902 scopus 로고    scopus 로고
    • Acute myeloid leukaemia
    • Estey E, Döhner H (2006) Acute myeloid leukaemia. Lancet 368:1894-1907.
    • (2006) Lancet , vol.368 , pp. 1894-1907
    • Estey, E.1    Döhner, H.2
  • 18
    • 33748955171 scopus 로고    scopus 로고
    • Cytogenetic and morphological findings in 166 patients with de novo acute myeloid leukemia in southern Brazil
    • Onsten T, Girardi FM, Coelho GM, Lima Frey MC, Paskulin G (2006) Cytogenetic and morphological findings in 166 patients with de novo acute myeloid leukemia in southern Brazil. Cancer Genet and Cytogenet 170:167-170.
    • (2006) Cancer Genet and Cytogenet , vol.170 , pp. 167-170
    • Onsten, T.1    Girardi, F.M.2    Coelho, G.M.3    Lima Frey, M.C.4    Paskulin, G.5
  • 19
    • 38949103402 scopus 로고    scopus 로고
    • Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene
    • Du HY, et al. (2008) Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 111:1128-1130.
    • (2008) Blood , vol.111 , pp. 1128-1130
    • Du, H.Y.1
  • 20
    • 38949156672 scopus 로고    scopus 로고
    • TERT promotes epithelial proliferation through transcriptional control of a Myc- and Wnt-related developmental program
    • 10.1371/journal.pgen.0040010
    • Choi J, et al. (2008) TERT promotes epithelial proliferation through transcriptional control of a Myc- and Wnt-related developmental program. PLoS Genet, 10.1371/journal.pgen.0040010.
    • (2008) PLoS Genet
    • Choi, J.1
  • 21
    • 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, et al. (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36:447-449.
    • (2004) Nat Genet , vol.36 , pp. 447-449
    • Vulliamy, T.1
  • 22
    • 33746425690 scopus 로고    scopus 로고
    • Telomere-related genome instability in cancer
    • de Lange T (2005) Telomere-related genome instability in cancer. Cold Spring Harb Symp Quant Biol 70:197-204.
    • (2005) Cold Spring Harb Symp Quant Biol , vol.70 , pp. 197-204
    • de Lange, T.1
  • 23
    • 0034632717 scopus 로고    scopus 로고
    • Telomere dysfunction promotes nonreciprocal translocations and epithelial cancers in mice
    • Artandi SE, et al. (2000) Telomere dysfunction promotes nonreciprocal translocations and epithelial cancers in mice. Nature 406:641-645.
    • (2000) Nature , vol.406 , pp. 641-645
    • Artandi, S.E.1
  • 24
    • 38949163678 scopus 로고    scopus 로고
    • FLT3-ITD cooperates with inv(16) to promote progression to acute myeloid leukemia
    • Kim HG, et al. (2008) FLT3-ITD cooperates with inv(16) to promote progression to acute myeloid leukemia. Blood 111:1567-1574.
    • (2008) Blood , vol.111 , pp. 1567-1574
    • Kim, H.G.1
  • 25
    • 0033525558 scopus 로고    scopus 로고
    • Longevity, stress response, and cancer in aging telomerase-deficient mice
    • Rudolph KL, et al. (1999) Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 96:701-712.
    • (1999) Cell , vol.96 , pp. 701-712
    • Rudolph, K.L.1
  • 26
    • 53749084846 scopus 로고    scopus 로고
    • Telomerase deficiency affects the formation of chromosomal translocations by homologous recombination in Saccharomyces cerevisiae
    • 10.1371/journal.pone.0003318
    • Meyer DH, Bailis AM (2008) Telomerase deficiency affects the formation of chromosomal translocations by homologous recombination in Saccharomyces cerevisiae. PLoS ONE, 10.1371/journal.pone.0003318.
    • (2008) PLoS ONE
    • Meyer, D.H.1    Bailis, A.M.2
  • 27
    • 4444345401 scopus 로고    scopus 로고
    • In situ analyses of genome instability in breast cancer
    • Chin K, et al. (2004) In situ analyses of genome instability in breast cancer. Nat Genet 36:984-988.
    • (2004) Nat Genet , vol.36 , pp. 984-988
    • Chin, K.1
  • 28
    • 0042140590 scopus 로고    scopus 로고
    • Telomere dysfunction: A potential cancer predisposition factor
    • Wu X, et al. (2003) Telomere dysfunction: a potential cancer predisposition factor. J Natl Cancer Inst 95:1211-1218.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 1211-1218
    • Wu, X.1
  • 29
    • 0029953160 scopus 로고    scopus 로고
    • Telomerase activity in human acute myelogenous leukemia: Inhibition of telomerase activity by differentiation- inducing agents
    • Zhang W, et al. (1996) Telomerase activity in human acute myelogenous leukemia: inhibition of telomerase activity by differentiation- inducing agents. Clin Cancer Res 2:799-803.
    • (1996) Clin Cancer Res , vol.2 , pp. 799-803
    • Zhang, W.1
  • 30
    • 33644861968 scopus 로고    scopus 로고
    • Telomere shortening in smokers with and without COPD
    • Morla M, et al. (2006) Telomere shortening in smokers with and without COPD. Eur Respir J 27:525-528.
    • (2006) Eur Respir J , vol.27 , pp. 525-528
    • Morla, M.1
  • 31
    • 33947232802 scopus 로고    scopus 로고
    • Long-term lymphoma survivors following high-dose chemotherapy and autograft: Evidence of permanent telomere shortening in myeloid cells, associated with marked reduction of bone marrow hematopoietic stem cell reservoir
    • Rocci A, et al. (2007) Long-term lymphoma survivors following high-dose chemotherapy and autograft: Evidence of permanent telomere shortening in myeloid cells, associated with marked reduction of bone marrow hematopoietic stem cell reservoir. Exp Hematol 35:673-681.
    • (2007) Exp Hematol , vol.35 , pp. 673-681
    • Rocci, A.1
  • 32
    • 0002459325 scopus 로고    scopus 로고
    • Pathology and genetics of tumours of haematopoietic and lymphoid tissues
    • Jaffe ES, Harris NL, Stein H, Wardiman JW, eds , IARC, Lyon, France, p
    • Jaffe ES, Harris NL, Stein H, Wardiman JW, eds (2001) Pathology and genetics of tumours of haematopoietic and lymphoid tissues. World Health Organization Classification of Tumours (IARC, Lyon, France), p 351.
    • (2001) World Health Organization Classification of Tumours , pp. 351
  • 33
    • 0022135739 scopus 로고
    • Proposed revised criteria for the classification of acute myeloid leukemia
    • Bennett JM, et al. (1985) Proposed revised criteria for the classification of acute myeloid leukemia. Ann Intern Med 103:620-625.
    • (1985) Ann Intern Med , vol.103 , pp. 620-625
    • Bennett, J.M.1
  • 34
    • 0021971421 scopus 로고
    • Criteria for the diagnosis of acute leukemia of megakaryocyte lineage (M7). A report of the French-American-British Cooperative Group
    • Bennett JM, et al. (1985) Criteria for the diagnosis of acute leukemia of megakaryocyte lineage (M7). A report of the French-American-British Cooperative Group. Ann Intern Med 103:460-462.
    • (1985) Ann Intern Med , vol.103 , pp. 460-462
    • Bennett, J.M.1
  • 35
    • 0025797752 scopus 로고
    • Proposal for the recognition of minimally differentiated acute myeloid leukaemia (AML-MO)
    • Bennett JM, et al. (1991) Proposal for the recognition of minimally differentiated acute myeloid leukaemia (AML-MO). Br J Haematol 78:325-329.
    • (1991) Br J Haematol , vol.78 , pp. 325-329
    • Bennett, J.M.1
  • 36
    • 0034701292 scopus 로고    scopus 로고
    • High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot
    • Jeffreys AJ, Ritchie A, Neumann R (2000) High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot. Hum Mol Genet 9:725-733.
    • (2000) Hum Mol Genet , vol.9 , pp. 725-733
    • Jeffreys, A.J.1    Ritchie, A.2    Neumann, R.3


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