1) OʼSullivan RJ, Karlseder J. Telomeres: protecting chromosomes against genome instability. Nat Rev Mol Cell Biol. 2010; 11: 171-81
|
|
|
2) Nishio N, Kojima S. Recent progress in dyskeratosis congenital. Int J Hematol. 2010; 92: 419-24
|
|
|
3) Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008; 111: 4446-55
|
|
|
4) Knight S, Vulliamy TJ, Copplestone A, et al. Telomeres: Deskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol. 1998; 103: 990-6
|
|
|
5) 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: 2680-85
|
|
|
6) 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
|
|
|
7) Calado RT, Regal JA, Hills M, et al. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci U S A. 2009; 106: 1187-92
|
|
|
8) Calado RT, Regal JA, Kleiner DE, et al. A spectrum of severe liver and blood disorders associated with telomerase mutations. PLoS One. 2009; 4: e7926
|
|
|
9) Brouilette SW, Moore JS, McMahon AD, et al. Telomere length, risk of coronary heart disease, and statin treatment in the West of Scotland Primary Prevention Study: a nested case-control study. Lancet. 2007; 369: 827-35
|
|
|
10) Fitzpatrick AL, Kronmal RA, Gardner JP, et al. Leukocyte telomere length and mortality in the Cardiovascular Health Study. Am J Epidemiol. 2007; 165: 14-21
|
|
|
11) Lundblad V. Telomere maintenance without telomerase. Oncogene. 2002; 21: 522-31
|
|
|
12) Fitzgerald MS, Riha K, Gao F, et al. Disruption of the telomerase catalytic subunit gene from Arabidopsis inactivates telomerase and leads to a slow loss of telomeric DNA. Proc Natl Acad Sci U S A. 1999; 96: 14813-18
|
|
|
13) Liu Y, Snow BE, Hande MP, et al. The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo. Curr Biol. 2000; 10: 1459-62
|
|
|
14) Lansdorp PM. Telomeres and disease. EMBO J. 2009; 28: 2532-40
|
|
|
15) Aylon Y, Liefshitz B, Kupiec M, et al. The CDK regulates repair of double-strand breaks by homologous recombination during the cell cycle. EMBO J. 2004; 23: 4868-75
|
|
|
16) Wilson A, Laurenti E, Oser G, et al. Hemato-poietic stem cells reversibly switch from dormancy to self-renewal during homeostasis and repair. Cell. 2008; 135: 1118-29
|
|
|
17) Walne AJ, Dokal I. Dyskeratosis congenita: a historical perspective. Mech Ageing Dev. 2008; 129: 48-59
|
|
|
18) Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am. 2009; 23: 215-31
|
|
|
19) Alter BP, Giri N, Savage SA, et al. Cancer in dyskeratosis congenita. Blood. 2009; 113: 6549-57
|
|
|
20) Walne AJ, Dokal I. Advances in the under-standing of dyskeratosis congenita. Br J Hematol. 2009; 145: 164-72
|
|
|
21) Walne AJ, Vulliamy T, Marrone A, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007; 16: 1619-29
|
|
|
22) Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008; 82: 501-9
|
|
|
23) Vulliamy T, Beswick R, Kirwan M, et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dys-keratosis congenita. Proc Natl Acad Sci U S A. 2008; 105: 8073-78
|
|
|
24) Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2008; 107: 2680-85
|
|
|
25) Dokal I. Dyskeratosis congenita in all its forms. Br J Hematol. 2000; 110: 768-79
|
|
|
26) Yamaguchi H, Calado RT, Ly H, Kajigaya S, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352: 1413-24
|
|
|
27) Du HY, Mason PJ, Bessler M, et al. TINF2 mutations in children with severe aplastic anemia. Pediatr Blood Cancer. 2009; 52: 687
|
|
|
28) Calado RT, Young NS. Telomere diseases. N Engl J Med. 2009; 361: 2353-65
|
|
|
29) Scheinberg P, Cooper JN, Sloand EM, et al. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. JAMA. 2010; 304: 1358-64
|
|
|
30) Ball SE, Gibson FM, Rizzo S, et al. Progressive telomere shortening in aplastic anemia. Blood. 1998; 91: 3582-92
|
|
|
31) Brümmendorf TH, Maciejewski JP, Mak J, et al. Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood. 2001; 97: 895-900
|
|
|
32) Alder JK, Chen JJ, Lancaster L, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A. 2008; 105: 13051-6
|
|
|
33) 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
|
|
|
34) Armanios MY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007; 356: 1317-26
|
|
|
35) Chang E, Harley CB. Telomere length and replicative aging in human vascular tissues. Proc Natl Acad Sci U S A. 1995; 92: 11190-4
|
|
|
36) Satoh M, Minami Y, Takahashi Y, et al. Effect of intensive lipid-lowering therapy on telomere erosion in endothelial progenitor cells obtained from patients with coronary artery disease. Clin Sci (Lond). 2009; 116: 827-35
|
|
|
37) Brouilette S, Singh RK, Thompson JR, et al. White cell telomere length and risk of premature myocardial infarction. Arterioscler Thromb Vasc Biol. 2003; 23: 842-6
|
|
|
38) Hastie ND, Dempster M, Dunlop MG, et al. Telomere reduction in human colorectal carcinoma and with ageing. Nature. 1990; 346: 866-8
|
|
|
39) Usselmann B, Newbold M, Morris AG, et al. Deficiency of colonic telomerase in ulcerative colitis. Am J Gastroenterol. 2001; 96: 1106-12
|
|
|
40) OʼSullivan JN, Bronner MP, Brentnall TA, et al. Chromosomal instability in ulcerative colitis is related to telomere shortening. Nat Genet. 2002; 32: 280-4
|
|
|
41) McKay JD, Hung RJ, Gaborieau V, et al. Lung cancer susceptibility locus at 5p15. 33. Nat Genet. 2008; 40: 1404-6
|
|
|
42) Jiang H, Schiffer E, Song Z, et al. Proteins induced by telomere dysfunction and DNA damage represent biomarkers of human aging and disease. Proc Natl Acad Sci U S A. 2008; 105: 11299-304
|
|
|
43) 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
|
|
|
44) Armanios M, Chen JL, Chang YP, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A. 2005; 102: 15960-4
|
|
|
45) Epel ES, Blackburn EH, Lin J, et al. Accelerated telomere shortening in response to life stress. Proc Natl Acad Sci U S A. 2004; 101: 17312-5
|
|
|