-
1
-
-
46249125488
-
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
-
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
-
3
-
-
0344441890
-
A DNA damage checkpoint response in telomere-initiated senescence
-
d'Adda di Fagagna F., Reaper P.M., Clay-Farrace L., Fiegler H., Carr P., Von Zglinicki T., Saretzki G., Carter N.P., Jackson S.P. A DNA damage checkpoint response in telomere-initiated senescence. Nature 2003, 426:194-198.
-
(2003)
Nature
, vol.426
, pp. 194-198
-
-
d'Adda di Fagagna, F.1
Reaper, P.M.2
Clay-Farrace, L.3
Fiegler, H.4
Carr, P.5
Von Zglinicki, T.6
Saretzki, G.7
Carter, N.P.8
Jackson, S.P.9
-
4
-
-
0042420304
-
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
-
5
-
-
0010045614
-
Extension of life-span by introduction of telomerase into normal human cells
-
Bodnar A.G., Ouellette M., Frolkis M., Holt S.E., Chiu C.P., Morin G.B., Harley C.B., Shay J.W., Lichtsteiner S., Wright W.E. Extension of life-span by introduction of telomerase into normal human cells. Science 1998, 279:349-352.
-
(1998)
Science
, vol.279
, pp. 349-352
-
-
Bodnar, A.G.1
Ouellette, M.2
Frolkis, M.3
Holt, S.E.4
Chiu, C.P.5
Morin, G.B.6
Harley, C.B.7
Shay, J.W.8
Lichtsteiner, S.9
Wright, W.E.10
-
6
-
-
74049111326
-
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
-
7
-
-
0033525558
-
Longevity, stress response, and cancer in aging telomerase-deficient mice
-
Rudolph K.L., Chang S., Lee H.W., Blasco M., Gottlieb G.J., Greider C., DePinho R.A. Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 1999, 96:701-712.
-
(1999)
Cell
, vol.96
, pp. 701-712
-
-
Rudolph, K.L.1
Chang, S.2
Lee, H.W.3
Blasco, M.4
Gottlieb, G.J.5
Greider, C.6
DePinho, R.A.7
-
8
-
-
0033153424
-
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
-
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
-
11
-
-
79955090518
-
Telomerase gene mutations are associated with cirrhosis formation
-
Hartmann D., Srivastava U., Thaler M., Kleinhans K.N., N'Kontchou G., Scheffold A., Bauer K., Kratzer R.F., Kloos N., Katz S.F., Song Z., et al. Telomerase gene mutations are associated with cirrhosis formation. Hepatology 2011, 53:1608-1617.
-
(2011)
Hepatology
, vol.53
, pp. 1608-1617
-
-
Hartmann, D.1
Srivastava, U.2
Thaler, M.3
Kleinhans, K.N.4
N'Kontchou, G.5
Scheffold, A.6
Bauer, K.7
Kratzer, R.F.8
Kloos, N.9
Katz, S.F.10
Song, Z.11
-
12
-
-
79955119666
-
Constitutional telomerase mutations are genetic risk factors for cirrhosis
-
Calado R.T., Brudno J., Mehta P., Kovacs J.J., Wu C., Zago M.A., Chanock S.J., Boyer T.D., Young N.S. Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology 2011, 53:1600-1607.
-
(2011)
Hepatology
, vol.53
, pp. 1600-1607
-
-
Calado, R.T.1
Brudno, J.2
Mehta, P.3
Kovacs, J.J.4
Wu, C.5
Zago, M.A.6
Chanock, S.J.7
Boyer, T.D.8
Young, N.S.9
-
13
-
-
77954339095
-
Malignancies and survival patterns in the national cancer institute inherited bone marrow failure syndromes cohort study
-
Alter B.P., Giri N., Savage S.A., Peters J.A., Loud J.T., Leathwood L., Carr A.G., Greene M.H., Rosenberg P.S. Malignancies and survival patterns in the national cancer institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010, 150:179-188.
-
(2010)
Br J Haematol
, vol.150
, pp. 179-188
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
Peters, J.A.4
Loud, J.T.5
Leathwood, L.6
Carr, A.G.7
Greene, M.H.8
Rosenberg, P.S.9
-
14
-
-
67650273697
-
Cancer in dyskeratosis congenita
-
Alter B.P., Giri N., Savage S.A., Rosenberg P.S. Cancer in dyskeratosis congenita. Blood 2009, 113:6549-6557.
-
(2009)
Blood
, vol.113
, pp. 6549-6557
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
Rosenberg, P.S.4
-
15
-
-
0034003333
-
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
-
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
-
17
-
-
0000839280
-
Telomere dysfunction provokes regional amplification and deletion in cancer genomes
-
O'Hagan R.C., Chang S., Maser R.S., Mohan R., Artandi S.E., Chin L., DePinho R.A. Telomere dysfunction provokes regional amplification and deletion in cancer genomes. Cancer Cell 2002, 2:149-155.
-
(2002)
Cancer Cell
, vol.2
, pp. 149-155
-
-
O'Hagan, R.C.1
Chang, S.2
Maser, R.S.3
Mohan, R.4
Artandi, S.E.5
Chin, L.6
DePinho, R.A.7
-
18
-
-
34250863886
-
Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers
-
Maser R.S., Choudhury B., Campbell P.J., Feng B., Wong K.K., Protopopov A., O'Neil J., Gutierrez A., Ivanova E., Perna I., Lin E., et al. Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Nature 2007, 447:966-971.
-
(2007)
Nature
, vol.447
, pp. 966-971
-
-
Maser, R.S.1
Choudhury, B.2
Campbell, P.J.3
Feng, B.4
Wong, K.K.5
Protopopov, A.6
O'Neil, J.7
Gutierrez, A.8
Ivanova, E.9
Perna, I.10
Lin, E.11
-
19
-
-
84862127178
-
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
-
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
-
21
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
Armanios M.Y., Chen J.J., Cogan J.D., Alder J.K., Ingersoll R.G., Markin C., Lawson W.E., Xie M., Vulto I., Phillips J.A.3rd, Lansdorp P.M., et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007, 356:1317-1326.
-
(2007)
N Engl J Med
, vol.356
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
Alder, J.K.4
Ingersoll, R.G.5
Markin, C.6
Lawson, W.E.7
Xie, M.8
Vulto, I.9
Phillips, J.10
Lansdorp, P.M.11
-
22
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
Tsakiri K.D., Cronkhite J.T., Kuan P.J., Xing C., Raghu G., Weissler J.C., Rosenblatt R.L., Shay J.W., Garcia C.K. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A 2007, 104:7552-7557.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
Xing, C.4
Raghu, G.5
Weissler, J.C.6
Rosenblatt, R.L.7
Shay, J.W.8
Garcia, C.K.9
-
23
-
-
15944422499
-
Mutations in tert, the gene for telomerase reverse transcriptase, in aplastic anemia
-
Yamaguchi H., Calado R.T., Ly H., Kajigaya S., Baerlocher G.M., Chanock S.J., Lansdorp P.M., Young N.S. Mutations in tert, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005, 352:1413-1424.
-
(2005)
N Engl J Med
, vol.352
, pp. 1413-1424
-
-
Yamaguchi, H.1
Calado, R.T.2
Ly, H.3
Kajigaya, S.4
Baerlocher, G.M.5
Chanock, S.J.6
Lansdorp, P.M.7
Young, N.S.8
-
24
-
-
18844421369
-
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
-
26
-
-
0032080191
-
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
-
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
-
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
-
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
-
30
-
-
0032499210
-
Essential role of mouse telomerase in highly proliferative organs
-
Lee H.W., Blasco M.A., Gottlieb G.J., Horner J.W., Greider C.W., DePinho R.A. Essential role of mouse telomerase in highly proliferative organs. Nature 1998, 392:569-574.
-
(1998)
Nature
, vol.392
, pp. 569-574
-
-
Lee, H.W.1
Blasco, M.A.2
Gottlieb, G.J.3
Horner, J.W.4
Greider, C.W.5
DePinho, R.A.6
-
31
-
-
0037480961
-
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
-
32
-
-
84863229585
-
A differentiation checkpoint limits hematopoietic stem cell self-renewal in response to DNA damage
-
Wang J., Sun Q., Morita Y., Jiang H., Gross A., Lechel A., Hildner K., Guachalla L.M., Gompf A., Hartmann D., Schambach A., et al. A differentiation checkpoint limits hematopoietic stem cell self-renewal in response to DNA damage. Cell 2012, 148:1001-1014.
-
(2012)
Cell
, vol.148
, pp. 1001-1014
-
-
Wang, J.1
Sun, Q.2
Morita, Y.3
Jiang, H.4
Gross, A.5
Lechel, A.6
Hildner, K.7
Guachalla, L.M.8
Gompf, A.9
Hartmann, D.10
Schambach, A.11
-
33
-
-
34250007142
-
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
-
34
-
-
78650432352
-
Short telomeres and stem cell exhaustion model duchenne muscular dystrophy in mdx/mtr mice
-
Sacco A., Mourkioti F., Tran R., Choi J., Llewellyn M., Kraft P., Shkreli M., Delp S., Pomerantz J.H., Artandi S.E., Blau H.M. Short telomeres and stem cell exhaustion model duchenne muscular dystrophy in mdx/mtr mice. Cell 2010, 143:1059-1071.
-
(2010)
Cell
, vol.143
, pp. 1059-1071
-
-
Sacco, A.1
Mourkioti, F.2
Tran, R.3
Choi, J.4
Llewellyn, M.5
Kraft, P.6
Shkreli, M.7
Delp, S.8
Pomerantz, J.H.9
Artandi, S.E.10
Blau, H.M.11
-
35
-
-
0032491416
-
Embryonic stem cell lines derived from human blastocysts
-
Thomson J.A., Itskovitz-Eldor J., Shapiro S.S., Waknitz M.A., Swiergiel J.J., Marshall V.S., Jones J.M. Embryonic stem cell lines derived from human blastocysts. Science 1998, 282:1145-1147.
-
(1998)
Science
, vol.282
, pp. 1145-1147
-
-
Thomson, J.A.1
Itskovitz-Eldor, J.2
Shapiro, S.S.3
Waknitz, M.A.4
Swiergiel, J.J.5
Marshall, V.S.6
Jones, J.M.7
-
36
-
-
77949424341
-
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
-
Agarwal S., Loh Y.H., McLoughlin E.M., Huang J., Park I.H., Miller J.D., Huo H., Okuka M., Dos Reis R.M., Loewer S., Ng H.H., et al. Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. Nature 2010.
-
(2010)
Nature
-
-
Agarwal, S.1
Loh, Y.H.2
McLoughlin, E.M.3
Huang, J.4
Park, I.H.5
Miller, J.D.6
Huo, H.7
Okuka, M.8
Dos Reis, R.M.9
Loewer, S.10
Ng, H.H.11
-
37
-
-
79959282291
-
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells
-
Batista L.F., Pech M.F., Zhong F.L., Nguyen H.N., Xie K.T., Zaug A.J., Crary S.M., Choi J., Sebastiano V., Cherry A., Giri N., et al. Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature 2011, 474:399-402.
-
(2011)
Nature
, vol.474
, pp. 399-402
-
-
Batista, L.F.1
Pech, M.F.2
Zhong, F.L.3
Nguyen, H.N.4
Xie, K.T.5
Zaug, A.J.6
Crary, S.M.7
Choi, J.8
Sebastiano, V.9
Cherry, A.10
Giri, N.11
-
38
-
-
69349094006
-
A p53-mediated DNA damage response limits reprogramming to ensure iPS cell genomic integrity
-
Marion R.M., Strati K., Li H., Murga M., Blanco R., Ortega S., Fernandez-Capetillo O., Serrano M., Blasco M.A. A p53-mediated DNA damage response limits reprogramming to ensure iPS cell genomic integrity. Nature 2009, 460:1149-1153.
-
(2009)
Nature
, vol.460
, pp. 1149-1153
-
-
Marion, R.M.1
Strati, K.2
Li, H.3
Murga, M.4
Blanco, R.5
Ortega, S.6
Fernandez-Capetillo, O.7
Serrano, M.8
Blasco, M.A.9
-
39
-
-
0033518188
-
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
-
40
-
-
59149095154
-
A human telomerase holoenzyme protein required for cajal body localization and telomere synthesis
-
Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E. A human telomerase holoenzyme protein required for cajal body localization and telomere synthesis. Science 2009, 323:644-648.
-
(2009)
Science
, vol.323
, pp. 644-648
-
-
Venteicher, A.S.1
Abreu, E.B.2
Meng, Z.3
McCann, K.E.4
Terns, R.M.5
Veenstra, T.D.6
Terns, M.P.7
Artandi, S.E.8
-
41
-
-
63649111958
-
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
-
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
-
43
-
-
80455144472
-
Rejuvenating senescent and centenarian human cells by reprogramming through the pluripotent state
-
Lapasset L., Milhavet O., Prieur A., Besnard E., Babled A., Ait-Hamou N., Leschik J., Pellestor F., Ramirez J.M., De Vos J., Lehmann S., et al. Rejuvenating senescent and centenarian human cells by reprogramming through the pluripotent state. Genes Dev 2011, 25:2248-2253.
-
(2011)
Genes Dev
, vol.25
, pp. 2248-2253
-
-
Lapasset, L.1
Milhavet, O.2
Prieur, A.3
Besnard, E.4
Babled, A.5
Ait-Hamou, N.6
Leschik, J.7
Pellestor, F.8
Ramirez, J.M.9
De Vos, J.10
Lehmann, S.11
-
44
-
-
58949094552
-
Telomeres acquire embryonic stem cell characteristics in induced pluripotent stem cells
-
Marion R.M., Strati K., Li H., Tejera A., Schoeftner S., Ortega S., Serrano M., Blasco M.A. Telomeres acquire embryonic stem cell characteristics in induced pluripotent stem cells. Cell Stem Cell 2009, 4:141-154.
-
(2009)
Cell Stem Cell
, vol.4
, pp. 141-154
-
-
Marion, R.M.1
Strati, K.2
Li, H.3
Tejera, A.4
Schoeftner, S.5
Ortega, S.6
Serrano, M.7
Blasco, M.A.8
-
45
-
-
39149115929
-
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
-
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
-
47
-
-
84877105959
-
Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs
-
Winkler T., Hong S.G., Decker J.E., Morgan M.J., Wu C., Hughes WMt, Yang Y., Wangsa D., Padilla-Nash H.M., Ried T., Young N.S., et al. Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs. J Clin Investig 2013, 123:1952-1963.
-
(2013)
J Clin Investig
, vol.123
, pp. 1952-1963
-
-
Winkler, T.1
Hong, S.G.2
Decker, J.E.3
Morgan, M.J.4
Wu, C.5
Hughes WMt6
Yang, Y.7
Wangsa, D.8
Padilla-Nash, H.M.9
Ried, T.10
Young, N.S.11
-
48
-
-
33751072682
-
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
-
49
-
-
78650900215
-
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita
-
Zhong F., Savage S.A., Shkreli M., Giri N., Jessop L., Myers T., Chen R., Alter B.P., Artandi S.E. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev 2011, 25:11-16.
-
(2011)
Genes Dev
, vol.25
, pp. 11-16
-
-
Zhong, F.1
Savage, S.A.2
Shkreli, M.3
Giri, N.4
Jessop, L.5
Myers, T.6
Chen, R.7
Alter, B.P.8
Artandi, S.E.9
-
50
-
-
84864607108
-
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
-
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
-
52
-
-
45849131292
-
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
-
Vulliamy T., Beswick R., Kirwan M., Marrone A., Digweed M., Walne A., Dokal I. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A 2008, 105:8073-8078.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 8073-8078
-
-
Vulliamy, T.1
Beswick, R.2
Kirwan, M.3
Marrone, A.4
Digweed, M.5
Walne, A.6
Dokal, I.7
-
53
-
-
34447307404
-
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
-
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
-
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
-
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
-
57
-
-
84863393024
-
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause coats plus
-
Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J., Leibundgut E.O., et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause coats plus. Nat Genet 2012, 44:338-342.
-
(2012)
Nat Genet
, vol.44
, pp. 338-342
-
-
Anderson, B.H.1
Kasher, P.R.2
Mayer, J.3
Szynkiewicz, M.4
Jenkinson, E.M.5
Bhaskar, S.S.6
Urquhart, J.E.7
Daly, S.B.8
Dickerson, J.E.9
O'Sullivan, J.10
Leibundgut, E.O.11
-
58
-
-
84857769403
-
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
-
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
-
60
-
-
27644574342
-
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
-
Armanios M., Chen J.L., Chang Y.P., Brodsky R.A., Hawkins A., Griffin C.A., Eshleman J.R., Cohen A.R., Chakravarti A., Hamosh A., Greider C.W. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 2005, 102:15960-15964.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15960-15964
-
-
Armanios, M.1
Chen, J.L.2
Chang, Y.P.3
Brodsky, R.A.4
Hawkins, A.5
Griffin, C.A.6
Eshleman, J.R.7
Cohen, A.R.8
Chakravarti, A.9
Hamosh, A.10
Greider, C.W.11
|