-
1
-
-
0033754823
-
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
-
2
-
-
0031799895
-
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, Poustka A, Dokal I: 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
Poustka, A.7
Dokal, I.8
-
3
-
-
0036591884
-
Biogenesis of small nucleolar ribonucleoproteins
-
Filipowicz W, Pogacic V: Biogenesis of small nucleolar ribonucleoproteins. Curr Opinion Cell Biol 2002, 14: 19-327.
-
(2002)
Curr. Opinion Cell Biol.
, vol.14
, pp. 319-327
-
-
Filipowicz, W.1
Pogacic, V.2
-
4
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
Mitchell JR, 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
-
5
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I: The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001, 413: 32-435.
-
(2001)
Nature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
Dearlove, A.4
Bessler, M.5
Mason, P.J.6
Dokal, I.7
-
6
-
-
0041592752
-
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
-
Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, Young NS: Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003, 102:916-918.
-
(2003)
Blood
, vol.102
, pp. 916-918
-
-
Yamaguchi, H.1
Baerlocher, G.M.2
Lansdorp, P.M.3
Chanock, S.J.4
Nunez, O.5
Sloand, E.6
Young, N.S.7
-
7
-
-
0037157582
-
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
-
8
-
-
0036463495
-
Relationship between aplastic anemia and paroxysmal nocturnal hemoglobinuria
-
Kinoshita T, Inoue N: Relationship between aplastic anemia and paroxysmal nocturnal hemoglobinuria. Int J Hematol 2002, 75:117-122.
-
(2002)
Int. J. Hematol.
, vol.75
, pp. 117-122
-
-
Kinoshita, T.1
Inoue, N.2
-
9
-
-
0034788057
-
Paroxysmal nocturnal hemoglobinuria: Insights from recent advances in molecular biology
-
Bessler M, Schaefer A, Keller P: Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology. Transfus Med Rev 2001, 15:255-267.
-
(2001)
Transfus. Med. Rev.
, vol.15
, pp. 255-267
-
-
Bessler, M.1
Schaefer, A.2
Keller, P.3
-
10
-
-
0032510333
-
Cloning and characterization of human and mouse telomerase RNA gene promoter sequences
-
Zhao JQ, Hoare SF, McFarlane R, Muir S, Parkinson EK, Black DM, Keith WN: Cloning and characterization of human and mouse telomerase RNA gene promoter sequences. Oncogene 1998, 16: 345-1350.
-
(1998)
Oncogene
, vol.16
, pp. 1345-1350
-
-
Zhao, J.Q.1
Hoare, S.F.2
McFarlane, R.3
Muir, S.4
Parkinson, E.K.5
Black, D.M.6
Keith, W.N.7
-
11
-
-
0034486661
-
Activation of telomerase rna gene promoter activity by NFY, Sp1, and the retinoblastoma protein and repression by Sp3
-
Zhao JQ, Glasspool RM, Hoare SF, Bilsland A, Szatmari I, Keith WN: Activation of telomerase rna gene promoter activity by NFY, Sp1, and the retinoblastoma protein and repression by Sp3. Neoplasia 2000, 2:531-539.
-
(2000)
Neoplasia
, vol.2
, pp. 531-539
-
-
Zhao, J.Q.1
Glasspool, R.M.2
Hoare, S.F.3
Bilsland, A.4
Szatmari, I.5
Keith, W.N.6
-
12
-
-
0034674552
-
Sp family members and nuclear factor-Y cooperatively stimulate transcription from the rat pyruvate kinase M gene distal promoter region via their direct interactions
-
Yamada K, Tanaka T, Miyamoto K, Noguchi T: Sp family members and nuclear factor-Y cooperatively stimulate transcription from the rat pyruvate kinase M gene distal promoter region via their direct interactions. J Biol Chem 2000, 275:18129-18137.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 18129-18137
-
-
Yamada, K.1
Tanaka, T.2
Miyamoto, K.3
Noguchi, T.4
-
13
-
-
0037432126
-
Involvement of NF-Y and Sp1 binding sequences in basal transcription of the human telomerase RNA gene
-
Zhao J, Bilsland A, Hoare SF, Keith WN: Involvement of NF-Y and Sp1 binding sequences in basal transcription of the human telomerase RNA gene. FEBS Lett 2003, 536:111-119.
-
(2003)
FEBS Lett.
, vol.536
, pp. 111-119
-
-
Zhao, J.1
Bilsland, A.2
Hoare, S.F.3
Keith, W.N.4
-
14
-
-
0037133563
-
Haploinsufficiency of mTR results in defects in telomere elongation
-
Hathcock KS, Hemann MT, Opperman KK, Strong MA, Greider CW, Hodes RJ: Haploinsufficiency of mTR results in defects in telomere elongation. Proc Natl Acad Sci U S A 2002, 99:3591-3596.
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 3591-3596
-
-
Hathcock, K.S.1
Hemann, M.T.2
Opperman, K.K.3
Strong, M.A.4
Greider, C.W.5
Hodes, R.J.6
-
15
-
-
0037428129
-
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification
-
Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP: Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003, 299: 59-262.
-
(2003)
Science
, vol.299
, pp. 259-262
-
-
Ruggero, D.1
Grisendi, S.2
Piazza, F.3
Rego, E.4
Mari, F.5
Rao, P.H.6
Cordon-Cardo, C.7
Pandolfi, P.P.8
-
16
-
-
0035002944
-
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis
-
Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I: 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
Devriendt, K.4
Mason, P.J.5
Dokal, I.6
-
17
-
-
0037178265
-
Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity
-
Salowsky R, Heiss NS, Benner A, Wittig R, Poustka A: Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. Gene 2002, 293:9-19.
-
(2002)
Gene
, vol.293
, pp. 9-19
-
-
Salowsky, R.1
Heiss, N.S.2
Benner, A.3
Wittig, R.4
Poustka, A.5
-
18
-
-
0035865618
-
Telomere length in leukocyte subpopulations of patients with aplastic anemia
-
Brummendorf TH, Maciejewski JP, Mak J, Young NS, Lansdorp PM: Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood 2001, 97:895-900.
-
(2001)
Blood
, vol.97
, pp. 895-900
-
-
Brummendorf, T.H.1
Maciejewski, J.P.2
Mak, J.3
Young, N.S.4
Lansdorp, P.M.5
-
19
-
-
0032525092
-
Progressive telomere shortening in aplastic anemia
-
Ball SE, Gibson FM, Rizzo S, Tooze JA, Marsh JC, Gordon-Smith EC: Progressive telomere shortening in aplastic anemia. Blood 1998, 91:3582-3592.
-
(1998)
Blood
, vol.91
, pp. 3582-3592
-
-
Ball, S.E.1
Gibson, F.M.2
Rizzo, S.3
Tooze, J.A.4
Marsh, J.C.5
Gordon-Smith, E.C.6
-
20
-
-
0035053168
-
Telomere length changes in patients with aplastic anaemia
-
Lee JJ, Kook H, Chung IJ, Na JA, Park MR, Hwang TJ, Kwak JY, Sohn SK, Kim HJ: Telomere length changes in patients with aplastic anaemia. Br J Haematol 2001, 112:1025-1030.
-
(2001)
Br. J. Haematol.
, vol.112
, pp. 1025-1030
-
-
Lee, J.J.1
Kook, H.2
Chung, I.J.3
Na, J.A.4
Park, M.R.5
Hwang, T.J.6
Kwak, J.Y.7
Sohn, S.K.8
Kim, H.J.9
-
21
-
-
0038494897
-
Severe telomere shortening in patients with paroxysmal nocturnal hemoglobinuria affects both GPI- and GPI+ hematopoiesis
-
Karadimitris A, Araten DJ, Luzzatto L, Notaro R: Severe telomere shortening in patients with paroxysmal nocturnal hemoglobinuria affects both GPI- and GPI+ hematopoiesis. Blood 2003, 102: 14-516.
-
(2003)
Blood
, vol.102
, pp. 514-516
-
-
Karadimitris, A.1
Araten, D.J.2
Luzzatto, L.3
Notaro, R.4
|