메뉴 건너뛰기




Volumn 53, Issue 5, 2011, Pages 1600-1607

Constitutional telomerase mutations are genetic risk factors for cirrhosis

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDYLTRANSFERASE; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE RNA TEMPLATE; UNCLASSIFIED DRUG;

EID: 79955119666     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.24173     Document Type: Article
Times cited : (136)

References (52)
  • 1
    • 0035929353 scopus 로고    scopus 로고
    • Switching and signaling at the telomere
    • Blackburn EH. Switching and signaling at the telomere. Cell 2001; 106: 661-673.
    • (2001) Cell , vol.106 , pp. 661-673
    • Blackburn, E.H.1
  • 2
    • 0015184804 scopus 로고
    • [Principle of marginotomy in template synthesis of polynucleotides.]
    • Olovnikov AM. [Principle of marginotomy in template synthesis of polynucleotides.] Dokl Akad Nauk SSSR 1971; 201: 1496-1499.
    • (1971) Dokl Akad Nauk SSSR , vol.201 , pp. 1496-1499
    • Olovnikov, A.M.1
  • 4
    • 34548667973 scopus 로고    scopus 로고
    • Telomere length, stem cells and aging
    • Blasco MA. Telomere length, stem cells and aging. Nat Chem Biol 2007; 3: 640-646.
    • (2007) Nat Chem Biol , vol.3 , pp. 640-646
    • Blasco, M.A.1
  • 5
    • 0022402513 scopus 로고
    • Identification of a specific telomere terminal transferase activity in Tetrahymena extracts
    • Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985; 43: 405-413.
    • (1985) Cell , vol.43 , pp. 405-413
    • Greider, C.W.1    Blackburn, E.H.2
  • 8
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32-38.
    • (1998) Nat Genet , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6
  • 9
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason P, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3    Dearlove, A.4    Bessler, M.5    Mason, P.6
  • 10
    • 0344851536 scopus 로고    scopus 로고
    • Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
    • Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand EM, Zeng W, et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 2003; 362: 1628-1630.
    • (2003) Lancet , vol.362 , pp. 1628-1630
    • Fogarty, P.F.1    Yamaguchi, H.2    Wiestner, A.3    Baerlocher, G.M.4    Sloand, E.M.5    Zeng, W.6
  • 11
  • 15
    • 70350721794 scopus 로고    scopus 로고
    • Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
    • Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat 2009; 30: 1567-1573.
    • (2009) Hum Mutat , vol.30 , pp. 1567-1573
    • Kirwan, M.1    Vulliamy, T.2    Marrone, A.3    Walne, A.J.4    Beswick, R.5    Hillmen, P.6
  • 19
    • 70350540794 scopus 로고    scopus 로고
    • Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility
    • Hosgood HD3, Cawthon RM, He X, Chanock SJ, Lan Q. Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility. Lung Cancer 2009; 66: 157-161.
    • (2009) Lung Cancer , vol.66 , pp. 157-161
    • Hosgood, H.D.1    Cawthon, R.M.2    He, X.3    Chanock, S.J.4    Lan, Q.5
  • 20
    • 77649188501 scopus 로고    scopus 로고
    • 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, Fraft P, Stolzenberg-Solomon RZ, Jacobs KB, 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: 224-228.
    • (2010) Nat Genet , vol.42 , pp. 224-228
    • Petersen, G.M.1    Amundadottir, L.2    Fuchs, C.S.3    Fraft, P.4    Stolzenberg-Solomon, R.Z.5    Jacobs, K.B.6
  • 21
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-779.
    • (2000) Br J Haematol , vol.110 , pp. 768-779
    • Dokal, I.1
  • 23
    • 47149112001 scopus 로고    scopus 로고
    • Telomere maintenance and human bone marrow failure
    • Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood 2008; 111: 4446-4455.
    • (2008) Blood , vol.111 , pp. 4446-4455
    • Calado, R.T.1    Young, N.S.2
  • 24
    • 0031656541 scopus 로고    scopus 로고
    • Unusual complications after bone marrow transplantation for dyskeratosis congenita
    • Rocha V, Devergie A, Socie G, Ribaud P, Esperou H, Parquet N, et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haem 1998; 103: 243-248.
    • (1998) Br J Haem , vol.103 , pp. 243-248
    • Rocha, V.1    Devergie, A.2    Socie, G.3    Ribaud, P.4    Esperou, H.5    Parquet, N.6
  • 26
    • 0034681457 scopus 로고    scopus 로고
    • Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery
    • Rudolph KL, Chang S, Millard M, Schreiber-Agus N, DePinho RA. Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery. Science 2000; 287: 1253-1258.
    • (2000) Science , vol.287 , pp. 1253-1258
    • Rudolph, K.L.1    Chang, S.2    Millard, M.3    Schreiber-Agus, N.4    DePinho, R.A.5
  • 29
    • 2342419515 scopus 로고    scopus 로고
    • Telomere measurement by quantitative PCR
    • Cawthon RM. Telomere measurement by quantitative PCR. Nucleic Acids Res 2002; 30.
    • (2002) Nucleic Acids Res , vol.30
    • Cawthon, R.M.1
  • 30
    • 33846049673 scopus 로고    scopus 로고
    • Telomere length, risk of coronary heart disease, and statin treatment in the West of Scotland Primary Prevention Study: a nested case-control study
    • Brouilette SW, Moore JS, McMahon AD, Thompson JR, Ford I, Shepherd J, 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: 107-114.
    • (2007) Lancet , vol.369 , pp. 107-114
    • Brouilette, S.W.1    Moore, J.S.2    McMahon, A.D.3    Thompson, J.R.4    Ford, I.5    Shepherd, J.6
  • 31
    • 23744511264 scopus 로고    scopus 로고
    • 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, Davis J, Yong SL, Ouyang Q, 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: 1246-1252.
    • (2005) Blood , vol.106 , pp. 1246-1252
    • Ly, H.1    Schertzer, M.2    Jastaniah, W.3    Davis, J.4    Yong, S.L.5    Ouyang, Q.6
  • 32
    • 0037157582 scopus 로고    scopus 로고
    • Association between aplastic anaemia and mutations in telomerase RNA
    • Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.
    • (2002) Lancet , vol.359 , pp. 2168-2170
    • Vulliamy, T.1    Marrone, A.2    Dokal, I.3    Mason, P.J.4
  • 34
    • 33744497036 scopus 로고    scopus 로고
    • Mutations in telomerase catalytic protein in Japanese children with aplastic anemia
    • Liang J, Yagasaki H, Kamachi Y, Hama A, Matsumoto K, Kato K, et al. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica 2006; 91: 656-658.
    • (2006) Haematologica , vol.91 , pp. 656-658
    • Liang, J.1    Yagasaki, H.2    Kamachi, Y.3    Hama, A.4    Matsumoto, K.5    Kato, K.6
  • 36
    • 40049097359 scopus 로고    scopus 로고
    • Liver cirrhosis
    • Schuppan D, Afdhal NH. Liver cirrhosis. Lancet 2008; 371: 838-851.
    • (2008) Lancet , vol.371 , pp. 838-851
    • Schuppan, D.1    Afdhal, N.H.2
  • 37
    • 0036829649 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: management of hepatitis C: 2002, June 10-12, 2002.
    • National Institutes of Health Consensus Development Conference Statement: management of hepatitis C: 2002, June 10-12, 2002. HEPATOLOGY 2002; 36(5 Suppl 1): S3-S20.
    • (2002) HEPATOLOGY , vol.36 , Issue.5 SUPPL. 1
  • 38
    • 33646351020 scopus 로고    scopus 로고
    • Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C
    • Huang H, Shiffman ML, Cheung RC, Layden TJ, Friedman S, Abar OT, et al. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. Gastroenterology 2006; 130: 1679-1687.
    • (2006) Gastroenterology , vol.130 , pp. 1679-1687
    • Huang, H.1    Shiffman, M.L.2    Cheung, R.C.3    Layden, T.J.4    Friedman, S.5    Abar, O.T.6
  • 39
    • 17144459376 scopus 로고    scopus 로고
    • A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease
    • Muhlbauer M, Bosserhoff AK, Hartmann A, Thasler WE, Weiss TS, Herfarth H, et al. A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease. Gastroenterology 2003; 125: 1085-1093.
    • (2003) Gastroenterology , vol.125 , pp. 1085-1093
    • Muhlbauer, M.1    Bosserhoff, A.K.2    Hartmann, A.3    Thasler, W.E.4    Weiss, T.S.5    Herfarth, H.6
  • 40
    • 0344796403 scopus 로고    scopus 로고
    • Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection
    • Hellier S, Frodsham AJ, Hennig BJ, Klenerman P, Knapp S, Ramaley P, et al. Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection. HEPATOLOGY 2003; 38: 1468-1476.
    • (2003) HEPATOLOGY , vol.38 , pp. 1468-1476
    • Hellier, S.1    Frodsham, A.J.2    Hennig, B.J.3    Klenerman, P.4    Knapp, S.5    Ramaley, P.6
  • 41
    • 0034950485 scopus 로고    scopus 로고
    • A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis
    • Satsangi J, Chapman RW, Haldar N, Donaldson P, Mitchell S, Simmons J, et al. A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis. Gastroenterology 2001; 121: 124-130.
    • (2001) Gastroenterology , vol.121 , pp. 124-130
    • Satsangi, J.1    Chapman, R.W.2    Haldar, N.3    Donaldson, P.4    Mitchell, S.5    Simmons, J.6
  • 42
    • 0037371468 scopus 로고    scopus 로고
    • Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal
    • Bataller R, North KE, Brenner DA. Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. HEPATOLOGY 2003; 37: 493-503.
    • (2003) HEPATOLOGY , vol.37 , pp. 493-503
    • Bataller, R.1    North, K.E.2    Brenner, D.A.3
  • 44
    • 28944455294 scopus 로고    scopus 로고
    • Short telomeres, even in the presence of telomerase, limit tissue renewal capacity
    • Hao L-Y, Armanios M, Strong MD, Karim B, Feldser DM, Huso D, et al. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 2005; 123: 1121-1131.
    • (2005) Cell , vol.123 , pp. 1121-1131
    • Hao, L.-Y.1    Armanios, M.2    Strong, M.D.3    Karim, B.4    Feldser, D.M.5    Huso, D.6
  • 45
    • 0030692704 scopus 로고    scopus 로고
    • Reversibility of hepatic fibrosis in autoimmune hepatitis
    • Dufour JF, DeLellis R, Kaplan MM. Reversibility of hepatic fibrosis in autoimmune hepatitis. Ann Intern Med 1997; 127: 981-985.
    • (1997) Ann Intern Med , vol.127 , pp. 981-985
    • Dufour, J.F.1    DeLellis, R.2    Kaplan, M.M.3
  • 46
    • 0032410557 scopus 로고    scopus 로고
    • Regression of hepatic fibrosis in hepatitis C with long-term interferon treatment
    • Dufour JF, DeLellis R, Kaplan MM. Regression of hepatic fibrosis in hepatitis C with long-term interferon treatment. Dig Dis Sci 1998; 43: 2573-2576.
    • (1998) Dig Dis Sci , vol.43 , pp. 2573-2576
    • Dufour, J.F.1    DeLellis, R.2    Kaplan, M.M.3
  • 47
    • 17144455384 scopus 로고    scopus 로고
    • Histologic improvement of fibrosis in patients with hepatitis C who have sustained response to interferon therapy
    • Shiratori Y, Imazeki F, Moriyama M, Yano M, Arakawa Y, Yokosuka O, et al. Histologic improvement of fibrosis in patients with hepatitis C who have sustained response to interferon therapy. Ann Intern Med 2000; 132: 517-524.
    • (2000) Ann Intern Med , vol.132 , pp. 517-524
    • Shiratori, Y.1    Imazeki, F.2    Moriyama, M.3    Yano, M.4    Arakawa, Y.5    Yokosuka, O.6
  • 48
    • 0033766167 scopus 로고    scopus 로고
    • Impact of interferon alfa-2b and ribavirin on progression of liver fibrosis in patients with chronic hepatitis C
    • Poynard T, McHutchison J, Davis GL, Esteban-Mur R, Goodman Z, Bedossa P, et al. Impact of interferon alfa-2b and ribavirin on progression of liver fibrosis in patients with chronic hepatitis C. HEPATOLOGY 2000; 32: 1131-1137.
    • (2000) HEPATOLOGY , vol.32 , pp. 1131-1137
    • Poynard, T.1    McHutchison, J.2    Davis, G.L.3    Esteban-Mur, R.4    Goodman, Z.5    Bedossa, P.6
  • 49
    • 0035825721 scopus 로고    scopus 로고
    • Regression of liver fibrosis after biliary drainage in patients with chronic pancreatitis and stenosis of the common bile duct
    • Hammel P, Couvelard A, O'Toole D, Ratouis A, Sauvanet A, Flejou JF, et al. Regression of liver fibrosis after biliary drainage in patients with chronic pancreatitis and stenosis of the common bile duct. N Engl J Med 2001; 344: 418-423.
    • (2001) N Engl J Med , vol.344 , pp. 418-423
    • Hammel, P.1    Couvelard, A.2    O'Toole, D.3    Ratouis, A.4    Sauvanet, A.5    Flejou, J.F.6
  • 50
    • 0035009810 scopus 로고    scopus 로고
    • Rates and risk factors of liver fibrosis progression in patients with chronic hepatitis C
    • Poynard T, Ratziu V, Charlotte F, Goodman Z, McHutchison J, Albrecht J. Rates and risk factors of liver fibrosis progression in patients with chronic hepatitis C. J Hepatol 2001; 34: 730-739.
    • (2001) J Hepatol , vol.34 , pp. 730-739
    • Poynard, T.1    Ratziu, V.2    Charlotte, F.3    Goodman, Z.4    McHutchison, J.5    Albrecht, J.6
  • 51
    • 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 PJ, 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.