-
1
-
-
60349104299
-
The spliceosome: Design principles of a dynamic rnp machine
-
Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell. 2009;136(4):701-718.
-
(2009)
Cell
, vol.136
, Issue.4
, pp. 701-718
-
-
Wahl, M.C.1
Will, C.L.2
Lührmann, R.3
-
2
-
-
34548758543
-
Splicing in disease: Disruption of the splicing code and the decoding machinery
-
Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007;8(10):749-761.
-
(2007)
Nat Rev Genet
, vol.8
, Issue.10
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
3
-
-
84555192302
-
Recurrent mutations in the u2af1 splicing factor in myelodysplastic syndromes
-
Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2011; 44(1):53-57.
-
(2011)
Nat Genet
, vol.44
, Issue.1
, pp. 53-57
-
-
Graubert, T.A.1
Shen, D.2
Ding, L.3
-
4
-
-
84859597590
-
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
-
Makishima H, Visconte V, Sakaguchi H, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012;119(14):3203-3210.
-
(2012)
Blood
, vol.119
, Issue.14
, pp. 3203-3210
-
-
Makishima, H.1
Visconte, V.2
Sakaguchi, H.3
-
5
-
-
84872085802
-
Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia
-
Abu Kar S, Jankowska AM, Makishima H, et al. Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. Haematologica. 2013;98(1):107-113.
-
(2013)
Haematologica
, vol.98
, Issue.1
, pp. 107-113
-
-
Abu Kar, S.1
Jankowska, A.M.2
Makishima, H.3
-
6
-
-
84867253750
-
Srsf2 mutations in 275 cases with chronic myelomonocytic leukemia (cmml)
-
Meggendorfer M, Roller A, Haferlach T, et al. SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood. 2012; 120(15):3080-3088.
-
(2012)
Blood
, vol.120
, Issue.15
, pp. 3080-3088
-
-
Meggendorfer, M.1
Roller, A.2
Haferlach, T.3
-
7
-
-
80053900941
-
Frequent pathway mutations of splicing machinery in myelodysplasia
-
Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
-
(2011)
Nature
, vol.478
, Issue.7367
, pp. 64-69
-
-
Yoshida, K.1
Sanada, M.2
Shiraishi, Y.3
-
8
-
-
84855370035
-
Sf3b1 and other novel cancer genes in chronic lymphocytic leukemia
-
Wang L, Lawrence MS, Wan Y, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med. 2011;365(26): 2497-2506.
-
(2011)
N Engl J Med
, vol.365
, Issue.26
, pp. 2497-2506
-
-
Wang, L.1
Lawrence, M.S.2
Wan, Y.3
-
9
-
-
84555171449
-
Exome sequencing identifies recurrent mutations of the splicing factor sf3b1 gene in chronic lymphocytic leukemia
-
Quesada V, Conde L, Villamor N, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2011;44(1):47-52.
-
(2011)
Nat Genet
, vol.44
, Issue.1
, pp. 47-52
-
-
Quesada, V.1
Conde, L.2
Villamor, N.3
-
10
-
-
84859856420
-
Frequency and prognostic impact of mutations in srsf2, u2af1, and zrsr2 in patients with myelodysplastic syndromes
-
Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012; 119(15):3578-3584.
-
(2012)
Blood
, vol.119
, Issue.15
, pp. 3578-3584
-
-
Thol, F.1
Kade, S.2
Schlarmann, C.3
-
11
-
-
84857994411
-
Sf3b1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts
-
Visconte V, Makishima H, Jankowska A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia. 2011;26(3):542-545.
-
(2011)
Leukemia
, vol.26
, Issue.3
, pp. 542-545
-
-
Visconte, V.1
Makishima, H.2
Jankowska, A.3
-
12
-
-
80054010617
-
Somatic sf3b1 mutation in myelodysplasia with ring sideroblasts
-
Papaemmanuil E, Cazzola M, Boultwood J, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15): 1384-1395.
-
(2011)
N Engl J Med
, vol.365
, Issue.15
, pp. 1384-1395
-
-
Papaemmanuil, E.1
Cazzola, M.2
Boultwood, J.3
-
13
-
-
83455234787
-
Clinical significance of sf3b1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
-
Malcovati L, Papaemmanuil E, Bowen DT, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239-6246.
-
(2011)
Blood
, vol.118
, Issue.24
, pp. 6239-6246
-
-
Malcovati, L.1
Papaemmanuil, E.2
Bowen, D.T.3
-
14
-
-
84255160977
-
Mutations of the sf3b1 splicing factor in chronic lymphocytic leukemia: Association with progression and fludarabine-refractoriness
-
Rossi D, Bruscaggin A, Spina V, et al. Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. Blood. 2011;118(26): 6904-6908.
-
(2011)
Blood
, vol.118
, Issue.26
, pp. 6904-6908
-
-
Rossi, D.1
Bruscaggin, A.2
Spina, V.3
-
15
-
-
84859590749
-
Srsf2 is mutated in 47.2% (77/163) of chronic myelomonocytic leukemia (cmml) and prognostically favorable in cases with concomitant runx1 mutations
-
ASH Annual Meeting Abstracts
-
Schnittger S, Meggendorfer M, Kohlmann A, et al. SRSF2 is mutated in 47.2% (77/163) of chronic myelomonocytic leukemia (CMML) and prognostically favorable in cases with concomitant RUNX1 mutations. Blood. 2011;118(21):274. [ASH Annual Meeting Abstracts].
-
(2011)
Blood
, vol.118
, Issue.21
, pp. 274
-
-
Schnittger, S.1
Meggendorfer, M.2
Kohlmann, A.3
-
16
-
-
79961187826
-
Ag-dependent 39-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon
-
Fu Y, Masuda A, Ito M, et al. AG-dependent 39-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res. 2011;39(10): 4396-4404.
-
(2011)
Nucleic Acids Res
, vol.39
, Issue.10
, pp. 4396-4404
-
-
Fu, Y.1
Masuda, A.2
Ito, M.3
-
17
-
-
57749114621
-
250k single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-cbl, in myeloid malignancies
-
Dunbar AJ, Gondek LP, O’Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
-
(2008)
Cancer Res.
, vol.68
, Issue.24
, pp. 10349-10357
-
-
Dunbar, A.J.1
Gondek, L.P.2
O’Keefe, C.L.3
-
18
-
-
67650588639
-
Loss of heterozygosity 4q24 and tet2 mutations associated with myelodysplastic/ myeloproliferative neoplasms
-
Jankowska AM, Szpurka H, Tiu RV, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/ myeloproliferative neoplasms. Blood. 2009; 113(25):6403-6410.
-
(2009)
Blood
, vol.113
, Issue.25
, pp. 6403-6410
-
-
Jankowska, A.M.1
Szpurka, H.2
Tiu, R.V.3
-
19
-
-
79957593717
-
Cbl, cblb, tet2, asxl1, and Idh1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia
-
Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011;117(21): e198-e206.
-
(2011)
Blood
, vol.117
, Issue.21
, pp. e198-e206
-
-
Makishima, H.1
Jankowska, A.M.2
McDevitt, M.A.3
-
20
-
-
83055192078
-
Differential expression in rna-seq: A matter of depth
-
Tarazona S, García-Alcalde F, Dopazo J, et al. Differential expression in RNA-seq: a matter of depth. Genome Res. 2011;21(12):2213-2223.
-
(2011)
Genome Res.
, vol.21
, Issue.12
, pp. 2213-2223
-
-
Tarazona, S.1
García-Alcalde, F.2
Dopazo, J.3
-
21
-
-
80054931745
-
Splicetrap: A method to quantify alternative splicing under single cellular conditions
-
Wu J, Akerman M, Sun S, et al. SpliceTrap: a method to quantify alternative splicing under single cellular conditions. Bioinformatics. 2011; 27(21):3010-3016.
-
(2011)
Bioinformatics
, vol.27
, Issue.21
, pp. 3010-3016
-
-
Wu, J.1
Akerman, M.2
Sun, S.3
-
22
-
-
2142738304
-
Weblogo: A sequence logo generator
-
Crooks GE, Hon G, Chandonia JM, et al. WebLogo: a sequence logo generator. Genome Res. 2004;14(6):1188-1190.
-
(2004)
Genome Res.
, vol.14
, Issue.6
, pp. 1188-1190
-
-
Crooks, G.E.1
Hon, G.2
Chandonia, J.M.3
-
23
-
-
0025008168
-
Sequence logos: A new way to display consensus sequences
-
Schneider TD, Stephens RM. Sequence logos: a new way to display consensus sequences. Nucleic Acids Res. 1990;18(20):6097-6100.
-
(1990)
Nucleic Acids Res.
, vol.18
, Issue.20
, pp. 6097-6100
-
-
Schneider, T.D.1
Stephens, R.M.2
-
24
-
-
68949213291
-
Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies
-
Maciejewski JP, Tiu RV, O’Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br J Haematol. 2009;146(5):479-488.
-
(2009)
Br J Haematol
, vol.146
, Issue.5
, pp. 479-488
-
-
Maciejewski, J.P.1
Tiu, R.V.2
O’Keefe, C.3
-
25
-
-
38949123096
-
Chromosomal lesions and uniparental disomy detected by snp arrays in Mds, mds/mpd, and mds-derived aml
-
Gondek LP, Tiu R, O’Keefe CL, et al. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008;111(3): 1534-1542.
-
(2008)
Blood
, vol.111
, Issue.3
, pp. 1534-1542
-
-
Gondek, L.P.1
Tiu, R.2
O’Keefe, C.L.3
-
26
-
-
22244453416
-
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
-
Nannya Y, Sanada M, Nakazaki K, et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 2005;65(14):6071-6079.
-
(2005)
Cancer Res.
, vol.65
, Issue.14
, pp. 6071-6079
-
-
Nannya, Y.1
Sanada, M.2
Nakazaki, K.3
-
27
-
-
70449715477
-
New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia
-
Tiu RV, Gondek LP, O’Keefe CL, et al. New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. J Clin Oncol. 2009;27(31):5219-5226.
-
(2009)
J Clin Oncol
, vol.27
, Issue.31
, pp. 5219-5226
-
-
Tiu, R.V.1
Gondek, L.P.2
O’Keefe, C.L.3
-
28
-
-
35348890683
-
On testing the significance of sets of genes
-
Efron B, Tibshirani R. On testing the significance of sets of genes. Ann Appl Stat. 2007;1(1): 107-129.
-
(2007)
Ann Appl Stat.
, vol.1
, Issue.1
, pp. 107-129
-
-
Efron, B.1
Tibshirani, R.2
-
29
-
-
61449223621
-
Uv-dependent interaction between cep164 and xpa mediates localization of cep164 at sites of dna damage and uv sensitivity
-
Pan YR, Lee EY. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. Cell Cycle. 2009;8(4):655-664.
-
(2009)
Cell Cycle
, vol.8
, Issue.4
, pp. 655-664
-
-
Pan, Y.R.1
Lee, E.Y.2
-
30
-
-
40349087260
-
Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of mdc1, rpa, and Chk1
-
Sivasubramaniam S, Sun X, Pan YR, Wang S, Lee EY. Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. Genes Dev. 2008;22(5):587-600.
-
(2008)
Genes Dev.
, vol.22
, Issue.5
, pp. 587-600
-
-
Sivasubramaniam, S.1
Sun, X.2
Pan, Y.R.3
Wang, S.4
Lee, E.Y.5
-
31
-
-
34249915043
-
Mechanism and thermodynamics of binding of the polypyrimidine tract binding protein to Rna
-
Schmid N, Zagrovic B, van Gunsteren WF. Mechanism and thermodynamics of binding of the polypyrimidine tract binding protein to RNA. Biochemistry. 2007;46(22):6500-6512.
-
(2007)
Biochemistry
, vol.46
, Issue.22
, pp. 6500-6512
-
-
Schmid, N.1
Zagrovic, B.2
van Gunsteren, W.F.3
-
32
-
-
25444486174
-
Structure of ptb bound to rna: Specific binding and implications for splicing regulation
-
Oberstrass FC, Auweter SD, Erat M, et al. Structure of PTB bound to RNA: specific binding and implications for splicing regulation. Science. 2005;309(5743):2054-2057.
-
(2005)
Science
, vol.309
, Issue.5743
, pp. 2054-2057
-
-
Oberstrass, F.C.1
Auweter, S.D.2
Erat, M.3
-
33
-
-
0342927495
-
Structure of tandem rna recognition motifs from polypyrimidine tract binding protein reveals novel features of the rrm fold
-
Conte MR, Grüne T, Ghuman J, et al. Structure of tandem RNA recognition motifs from polypyrimidine tract binding protein reveals novel features of the RRM fold. EMBO J. 2000;19(12):3132-3141.
-
(2000)
EMBO J.
, vol.19
, Issue.12
, pp. 3132-3141
-
-
Conte, M.R.1
Grüne, T.2
Ghuman, J.3
-
34
-
-
80055101101
-
Temporal dissection of tumorigenesis in primary cancers
-
Durinck S, Ho C, Wang NJ, et al. Temporal dissection of tumorigenesis in primary cancers. Cancer Discov. 2011;1(2):137-143.
-
(2011)
Cancer Discov.
, vol.1
, Issue.2
, pp. 137-143
-
-
Durinck, S.1
Ho, C.2
Wang, N.J.3
-
35
-
-
84863922124
-
Comprehensive molecular characterization of human colon and rectal cancer
-
Cancer Genome Atlas Network
-
Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487(7407):330-337.
-
(2012)
Nature
, vol.487
, Issue.7407
, pp. 330-337
-
-
-
36
-
-
84861427327
-
Melanoma genome sequencing reveals frequent prex2 mutations
-
Berger MF, Hodis E, Heffernan TP, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature. 2012;485(7399): 502-506.
-
(2012)
Nature
, vol.485
, Issue.7399
, pp. 502-506
-
-
Berger, M.F.1
Hodis, E.2
Heffernan, T.P.3
-
37
-
-
80052158097
-
The mutational landscape of head and neck squamous cell carcinoma
-
Stransky N, Egloff AM, Tward AD, et al. The mutational landscape of head and neck squamous cell carcinoma. Science. 2011; 333(6046):1157-1160.
-
(2011)
Science
, vol.333
, Issue.6046
, pp. 1157-1160
-
-
Stransky, N.1
Egloff, A.M.2
Tward, A.D.3
|