-
2
-
-
73949128867
-
The pathobiology of splicing
-
Ward AJ, Cooper TA. The pathobiology of splicing. J Pathol 2010;220:152-63.
-
(2010)
J Pathol
, vol.220
, pp. 152-163
-
-
Ward, A.J.1
Cooper, T.A.2
-
4
-
-
33745899048
-
Alternative splicing: new insights from global analyses
-
Blencoe BJ. Alternative splicing: new insights from global analyses. Cell 2006;126:37-47.
-
(2006)
Cell
, vol.126
, pp. 37-47
-
-
Blencoe, B.J.1
-
5
-
-
33744814686
-
Alternative splicing in concert with protein intrinsic disorder enables increased functional diversity in multicellular organisms
-
Romero PR, Zaidi S, Fang YY, et al. Alternative splicing in concert with protein intrinsic disorder enables increased functional diversity in multicellular organisms. Proc Natl Acad SciUSA 2006;103:8390-5.
-
(2006)
Proc Natl Acad SciUSA
, vol.103
, pp. 8390-8395
-
-
Romero, P.R.1
Zaidi, S.2
Fang, Y.Y.3
-
6
-
-
0030013179
-
Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA
-
Kanopka A, Mühlemann O, Akusjärvi G. Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA. Nature 1996;381:535-8.
-
(1996)
Nature
, vol.381
, pp. 535-538
-
-
Kanopka, A.1
Mühlemann, O.2
Akusjärvi, G.3
-
7
-
-
33244483620
-
Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing
-
Martinez-Conteras R, Fisette JF, Nasim FU, et al. Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing. PLoS Biol 2006;4:e21.
-
(2006)
PLoS Biol
, vol.4
-
-
Martinez-Conteras, R.1
Fisette, J.F.2
Nasim, F.U.3
-
8
-
-
38349127601
-
Combinatorial control of exon recognition
-
Hertel KJ. Combinatorial control of exon recognition. JBiol Chem 2008;283:1211-5.
-
(2008)
JBiol Chem
, vol.283
, pp. 1211-1215
-
-
Hertel, K.J.1
-
9
-
-
78650961149
-
Epigenetics in alternative splicing
-
Luco RF, Allo M, Schor IE, et al. Epigenetics in alternative splicing. Cell 2011;144:16-26.
-
(2011)
Cell
, vol.144
, pp. 16-26
-
-
Luco, R.F.1
Allo, M.2
Schor, I.E.3
-
10
-
-
33845643952
-
A genome-wide analysis indicates that yeast pre-mRNA splicing is predominantly posttranscriptional
-
Tardiff DF, Lacadie SA, Rosbash M. A genome-wide analysis indicates that yeast pre-mRNA splicing is predominantly posttranscriptional. Mol Cell 2006;24:917-29.
-
(2006)
Mol Cell
, vol.24
, pp. 917-929
-
-
Tardiff, D.F.1
Lacadie, S.A.2
Rosbash, M.3
-
11
-
-
19344363974
-
Promoter usage and alternative splicing
-
Kornblihtt AR. Promoter usage and alternative splicing. Curr Opin Cell Biol 2005;17:262-8.
-
(2005)
Curr Opin Cell Biol
, vol.17
, pp. 262-268
-
-
Kornblihtt, A.R.1
-
12
-
-
73349116881
-
Acetylation by the transcriptional coactivator Gcn5 plays a novel role in co-transcriptional spliceosome assembly
-
Gunderson FQ, Johnson TL. Acetylation by the transcriptional coactivator Gcn5 plays a novel role in co-transcriptional spliceosome assembly. PLoS Genet 2009; 5:e1000682.
-
(2009)
PLoS Genet
, vol.5
-
-
Gunderson, F.Q.1
Johnson, T.L.2
-
13
-
-
69949124307
-
Nucleosome positioning as a determinant of exon recognition
-
Tilgner H, Nikolaou C, Althammer S, et al. Nucleosome positioning as a determinant of exon recognition. Nat Struct Mol Biol 2009;16:996-1001.
-
(2009)
Nat Struct Mol Biol
, vol.16
, pp. 996-1001
-
-
Tilgner, H.1
Nikolaou, C.2
Althammer, S.3
-
14
-
-
70350013550
-
Biased chromatin signatures around polyadenylation sites and exons
-
Spies N, Nielsen CB, Padgett RA, et al. Biased chromatin signatures around polyadenylation sites and exons. Mol Cell 2009;36:245-54.
-
(2009)
Mol Cell
, vol.36
, pp. 245-254
-
-
Spies, N.1
Nielsen, C.B.2
Padgett, R.A.3
-
15
-
-
10044274340
-
Influence of RNA secondary structure on the pre-mRNA splicing process
-
Buratti E, Baralle FE. Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol 2004;24: 10505-14.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 10505-10514
-
-
Buratti, E.1
Baralle, F.E.2
-
16
-
-
0032913877
-
Reulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display
-
Muro AF, Caputi M, Pariyarath R, et al. Reulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display. Mol Cell Biol 1999; 19:2657-71.
-
(1999)
Mol Cell Biol
, vol.19
, pp. 2657-2671
-
-
Muro, A.F.1
Caputi, M.2
Pariyarath, R.3
-
17
-
-
30844442607
-
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
-
Kishore S, Stamm S. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 2006; 311:230-2.
-
(2006)
Science
, vol.311
, pp. 230-232
-
-
Kishore, S.1
Stamm, S.2
-
18
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo T, del Gaudio D, German JR, et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 2008;40: 719-21.
-
(2008)
Nat Genet
, vol.40
, pp. 719-721
-
-
Sahoo, T.1
del Gaudio, D.2
German, J.R.3
-
19
-
-
35148884160
-
Involvement of nuclear import and export factors in U8 box C/D snoRNP biogenesis
-
Watkins NJ, Lemm I, Luhrmann R. Involvement of nuclear import and export factors in U8 box C/D snoRNP biogenesis. Mol Cell Biol 2007;27:7018-27.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 7018-7027
-
-
Watkins, N.J.1
Lemm, I.2
Luhrmann, R.3
-
20
-
-
34147095881
-
Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP
-
Liu S, Li P, Dybkov O, et al. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science 2007;316:115-20.
-
(2007)
Science
, vol.316
, pp. 115-120
-
-
Liu, S.1
Li, P.2
Dybkov, O.3
-
21
-
-
0036798006
-
Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome
-
Stamm S. Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome. Hum Ml Genet 2002;11:2409-16.
-
(2002)
Hum Ml Genet
, vol.11
, pp. 2409-2416
-
-
Stamm, S.1
-
22
-
-
0031042396
-
Phosphorylation of the ASF/SF2 RS domain affects both protein-protein and protein-RNA interactions and is necessary for splicing
-
Xiao SH, Manley JL. Phosphorylation of the ASF/SF2 RS domain affects both protein-protein and protein-RNA interactions and is necessary for splicing. Genes Dev 1997; 11:334-44.
-
(1997)
Genes Dev
, vol.11
, pp. 334-344
-
-
Xiao, S.H.1
Manley, J.L.2
-
23
-
-
0027998643
-
Protein phosphatase 1 can modulate alternative 50 splice site selection in a HeLa splicing extract
-
Cardinali B, Cohen PT, Lamond AI. Protein phosphatase 1 can modulate alternative 50 splice site selection in a HeLa splicing extract. FEBS Lett 1994;352:276-80.
-
(1994)
FEBS Lett
, vol.352
, pp. 276-280
-
-
Cardinali, B.1
Cohen, P.T.2
Lamond, A.I.3
-
24
-
-
0019948176
-
Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products
-
Amara SG, Jonas V, Rosenfeld MG, et al. Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products. Nature 1982;298: 240-4.
-
(1982)
Nature
, vol.298
, pp. 240-244
-
-
Amara, S.G.1
Jonas, V.2
Rosenfeld, M.G.3
-
25
-
-
0022102304
-
Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene
-
Kornblihtt AR, Umezawa K, Vibe-Pedersen K, et al. Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene. EMBOJ 1985;4:1755-9.
-
(1985)
EMBOJ
, vol.4
, pp. 1755-1759
-
-
Kornblihtt, A.R.1
Umezawa, K.2
Vibe-Pedersen, K.3
-
26
-
-
60849108914
-
Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing
-
Zhang XH, Arias MA, Ke S, etal. Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing. RNA 2009;15:367-76.
-
(2009)
RNA
, vol.15
, pp. 367-376
-
-
Zhang, X.H.1
Arias, M.A.2
Ke, S.3
-
27
-
-
76149138842
-
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies
-
Dhir A, Buratti E. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBSJ 2010;841-55.
-
(2010)
FEBSJ
, pp. 841-855
-
-
Dhir, A.1
Buratti, E.2
-
28
-
-
0033846543
-
Multiple splicing defects in an intronic false exon
-
Sun H, Chasin LA. Multiple splicing defects in an intronic false exon. Mol Cell Biol 2000;20:6414-25.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 6414-6425
-
-
Sun, H.1
Chasin, L.A.2
-
29
-
-
2642513654
-
Silencer elements as possible inhibitors of pseudoexon splicing
-
Sironi M, Menozzi G, Riva L, et al. Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res 2004;32:1783-91.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 1783-1791
-
-
Sironi, M.1
Menozzi, G.2
Riva, L.3
-
30
-
-
2642525438
-
Computational definition of sequence motifs governing constitutive exon splicing
-
Zhang XH, Chasin LA. Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev 2004;18:1241-50.
-
(2004)
Genes Dev
, vol.18
, pp. 1241-1250
-
-
Zhang, X.H.1
Chasin, L.A.2
-
31
-
-
56749098074
-
Deep surveying of alternative splicing complexity in the human transcriptome by highthroughput sequencing
-
Pan Q, Shai O, Lee LJ, et al. Deep surveying of alternative splicing complexity in the human transcriptome by highthroughput sequencing. Nat Genet 2008;40:1413-5.
-
(2008)
Nat Genet
, vol.40
, pp. 1413-1415
-
-
Pan, Q.1
Shai, O.2
Lee, L.J.3
-
32
-
-
33846934728
-
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
-
Krawczak M, Thomas NS, Hundrieser B, et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. HumMutat 2007;28:150-8.
-
(2007)
HumMutat
, vol.28
, pp. 150-158
-
-
Krawczak, M.1
Thomas, N.S.2
Hundrieser, B.3
-
33
-
-
15544379277
-
Are splicing mutations the most frequent cause of hereditary disease?
-
Lopez-Bigas N, Audit B, Ouzouis C, et al. Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett 2005;579:1900-3.
-
(2005)
FEBS Lett
, vol.579
, pp. 1900-1903
-
-
Lopez-Bigas, N.1
Audit, B.2
Ouzouis, C.3
-
34
-
-
0035089807
-
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
-
Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001;68:598-605.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 598-605
-
-
Slaugenhaupt, S.A.1
Blumenfeld, A.2
Gill, S.P.3
-
35
-
-
34548457240
-
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
-
Cheishvili D, Maayan C, Smith Y, et al. IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination. Hum Mol Genet 2007;16:2097-104.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2097-2104
-
-
Cheishvili, D.1
Maayan, C.2
Smith, Y.3
-
36
-
-
45249106162
-
Spinal muscular atrophy
-
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371:2120-33.
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
37
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-83.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
-
38
-
-
36248987806
-
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
-
Kashima T, Rao N, David CJ, et al. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum Mol Genet 2007;16:3149-59.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3149-3159
-
-
Kashima, T.1
Rao, N.2
David, C.J.3
-
39
-
-
29244490598
-
Determinants of exon 7 splicing in the spinal muscular atrophy genes SMN1 and SMN2
-
Cartegni L, Hastings ML, Calarco JA, et al. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet 2006;78:63-77.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 63-77
-
-
Cartegni, L.1
Hastings, M.L.2
Calarco, J.A.3
-
40
-
-
33847241832
-
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
-
Nielsen KB, Sorensen S, Cartegni L, et al. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet 2007; 80:416-32.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 416-432
-
-
Nielsen, K.B.1
Sorensen, S.2
Cartegni, L.3
-
41
-
-
33845269544
-
Hutchinson-Gilford progeria syndrome: review of the phenotype
-
Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006;140: 2603-24.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2603-2624
-
-
Hennekam, R.C.1
-
43
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-8.
-
(2003)
Nature
, vol.423
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
-
44
-
-
36448983237
-
Molecular pathogenesis of WIlson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
-
de Bie P, Muller P, Wijmenga C, et al. Molecular pathogenesis of WIlson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007;44:673-88.
-
(2007)
J Med Genet
, vol.44
, pp. 673-688
-
-
de Bie, P.1
Muller, P.2
Wijmenga, C.3
-
45
-
-
0000241356
-
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
-
Moller LB, Tumer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. AmJ Hum Genet 2000;66:1211-20.
-
(2000)
AmJ Hum Genet
, vol.66
, pp. 1211-1220
-
-
Moller, L.B.1
Tumer, Z.2
Lund, C.3
-
46
-
-
48249148310
-
Tau exon 10 alternative splicing and tauopathies
-
Liu F, Gong CX. Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener 2008;3:8.
-
(2008)
Mol Neurodegener
, vol.3
, pp. 8
-
-
Liu, F.1
Gong, C.X.2
-
47
-
-
33645107783
-
The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease
-
Glatz DC, Rujescu D, Tang Y, etal. The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease. J Neurochem 2006;96:635-44.
-
(2006)
J Neurochem
, vol.96
, pp. 635-644
-
-
Glatz, D.C.1
Rujescu, D.2
Tang, Y.3
-
48
-
-
0026603841
-
Myotonic dystrophy mutation: an unstable CTG repeat in the 30 untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 30 untranslated region of the gene. Science 1992;255:1253-55.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
49
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-7.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
-
50
-
-
33745248133
-
Failure of MBNL1-dependetn post-natal splicing transitions in myotonic dystrophy
-
Lin X, Miller JW, Mankodi A, et al. Failure of MBNL1-dependetn post-natal splicing transitions in myotonic dystrophy. HumMol Genet 2006;15:2087-97.
-
(2006)
HumMol Genet
, vol.15
, pp. 2087-2097
-
-
Lin, X.1
Miller, J.W.2
Mankodi, A.3
-
51
-
-
34948834723
-
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
-
Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007;28:68-78.
-
(2007)
Mol Cell
, vol.28
, pp. 68-78
-
-
Kuyumcu-Martinez, N.M.1
Wang, G.S.2
Cooper, T.A.3
-
52
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet BN, Savkur RS, Singh G, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10:45-53.
-
(2002)
Mol Cell
, vol.10
, pp. 45-53
-
-
Charlet, B.N.1
Savkur, R.S.2
Singh, G.3
-
53
-
-
43049168361
-
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
-
Zhang Z, Lotti F, Dittmar K, et al. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 2008;133:585-600.
-
(2008)
Cell
, vol.133
, pp. 585-600
-
-
Zhang, Z.1
Lotti, F.2
Dittmar, K.3
-
54
-
-
42649144148
-
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
-
WIlkie SE, Vaclavik V, Wu H, et al. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. MolVis 2008;14:683-690.
-
(2008)
MolVis
, vol.14
, pp. 683-690
-
-
Wilkie, S.E.1
Vaclavik, V.2
Wu, H.3
-
55
-
-
17944379537
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
Vithana EN, Abu-Safieh L, Allen MJ, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 2001;8:375-81.
-
(2001)
Mol Cell
, vol.8
, pp. 375-381
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Allen, M.J.3
-
56
-
-
35848950003
-
Prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast
-
Boon KL, Grainger RJ, Ehsani P, et al. Prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast. Nat Struct Mol Biol 2007;14:1077-83.
-
(2007)
Nat Struct Mol Biol
, vol.14
, pp. 1077-1083
-
-
Boon, K.L.1
Grainger, R.J.2
Ehsani, P.3
-
57
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti E, Dork T, Zuccato E, et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001;20:1774-84.
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
Dork, T.2
Zuccato, E.3
-
58
-
-
33750716074
-
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006;351:602-11.
-
(2006)
Biochem Biophys Res Commun
, vol.351
, pp. 602-611
-
-
Arai, T.1
Hasegawa, M.2
Akiyama, H.3
-
59
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314: 130-3.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
-
60
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-72.
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
-
61
-
-
61349156118
-
Mutations in the FUS/LS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/LS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski Jr., T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
62
-
-
34447106755
-
Alternative splicing in cancer: noise, functional, or systematic?
-
Skotheim RI, Nees M. Alternative splicing in cancer: noise, functional, or systematic? Int J Biochem Cell Biol 2007;39: 1432-49.
-
(2007)
Int J Biochem Cell Biol
, vol.39
, pp. 1432-1449
-
-
Skotheim, R.I.1
Nees, M.2
-
63
-
-
2542628097
-
Cyclin-dependent kinase inhibition by the KLF6 tumor suppressor protein through interaction with cyclin D1
-
Benzeno S, Narla G, Allina J, et al. Cyclin-dependent kinase inhibition by the KLF6 tumor suppressor protein through interaction with cyclin D1. Cancer Res 2004;64: 3885-91.
-
(2004)
Cancer Res
, vol.64
, pp. 3885-3891
-
-
Benzeno, S.1
Narla, G.2
Allina, J.3
-
64
-
-
21344473196
-
Targeted inhibition of the KLF6 splice variant, KLF6-SV1, suppresses prostate cancer cell growth and spread
-
Narla G, DiFeo A, Yao S, et al. Targeted inhibition of the KLF6 splice variant, KLF6-SV1, suppresses prostate cancer cell growth and spread. Cancer Res 2005;65:5761-8.
-
(2005)
Cancer Res
, vol.65
, pp. 5761-5768
-
-
Narla, G.1
DiFeo, A.2
Yao, S.3
-
65
-
-
13944252065
-
A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk
-
Narla G, DiFeo A, Reeves HL, et al. A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Cancer Res 2005;65:1213-22.
-
(2005)
Cancer Res
, vol.65
, pp. 1213-1222
-
-
Narla, G.1
DiFeo, A.2
Reeves, H.L.3
-
66
-
-
48749088691
-
KLF6-SV1 overexpression accelerates human and mouse prostate cancer progression and metastasis
-
Narla G, DiFeo A, Fernandez Y, et al. KLF6-SV1 overexpression accelerates human and mouse prostate cancer progression and metastasis. JClin Invest 2008;118:2711-21.
-
(2008)
JClin Invest
, vol.118
, pp. 2711-2721
-
-
Narla, G.1
DiFeo, A.2
Fernandez, Y.3
-
67
-
-
0034945349
-
CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred
-
Petronzelli F, Sollima D, Coppola G, et al. CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred. Genes Chrom Can 2001;31:398-401.
-
(2001)
Genes Chrom Can
, vol.31
, pp. 398-401
-
-
Petronzelli, F.1
Sollima, D.2
Coppola, G.3
-
68
-
-
20544458054
-
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors
-
Chen LL, Sabripour M, Wu EF, et al. A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. Oncogene 2005;24:4271-80.
-
(2005)
Oncogene
, vol.24
, pp. 4271-4280
-
-
Chen, L.L.1
Sabripour, M.2
Wu, E.F.3
-
69
-
-
4644299291
-
Alternative splicing of Bcl-2-related genes: functional consequences and potential therapeutic applications
-
Akgul C, Moulding DA, Edwards SW. Alternative splicing of Bcl-2-related genes: functional consequences and potential therapeutic applications. Cell Mol Life Sci 2004;61: 2189-99.
-
(2004)
Cell Mol Life Sci
, vol.61
, pp. 2189-2199
-
-
Akgul, C.1
Moulding, D.A.2
Edwards, S.W.3
-
70
-
-
29144447982
-
Cell motility is controlled by SF2/ASF through alternative splicing of the Ron protooncogene
-
Ghigna C, Giordano S, Shen H, et al. Cell motility is controlled by SF2/ASF through alternative splicing of the Ron protooncogene. Mol Cell 2005;20:881-90.
-
(2005)
Mol Cell
, vol.20
, pp. 881-890
-
-
Ghigna, C.1
Giordano, S.2
Shen, H.3
-
71
-
-
33847630730
-
The gene encoding the splicing factor SF2/ASF is a proto-oncogene
-
Karni R, de Stanchina E, Lowe SW, et al. The gene encoding the splicing factor SF2/ASF is a proto-oncogene. Nat StructMol Biol 2007;14:185-93.
-
(2007)
Nat StructMol Biol
, vol.14
, pp. 185-193
-
-
Karni, R.1
de Stanchina, E.2
Lowe, S.W.3
-
72
-
-
38349085591
-
Regulation of alternative splicing by reversible protein phosphorylation
-
Stamm S. Regulation of alternative splicing by reversible protein phosphorylation. J BiolChem 2008;283:1223-7.
-
(2008)
J BiolChem
, vol.283
, pp. 1223-1227
-
-
Stamm, S.1
-
73
-
-
45249091505
-
Substances that can change alternative splice-site selection
-
Sumanasekera C, Watt DS, Stamm S. Substances that can change alternative splice-site selection. Biochem Soc Tran 2008;36:483-90.
-
(2008)
Biochem Soc Tran
, vol.36
, pp. 483-490
-
-
Sumanasekera, C.1
Watt, D.S.2
Stamm, S.3
-
74
-
-
73249132978
-
Pentamidine reverses the splicing defects associated with myotonic dystrophy
-
Warf MB, Nakamori M, Matthys CM, et al. Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci USA 2009;106:18551-6.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 18551-18556
-
-
Warf, M.B.1
Nakamori, M.2
Matthys, C.M.3
-
75
-
-
34748906143
-
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications
-
Aartsma-Rus A, van Ommen GJ. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA 2007;13:1609-24.
-
(2007)
RNA
, vol.13
, pp. 1609-1624
-
-
Aartsma-Rus, A.1
van Ommen, G.J.2
-
76
-
-
55349084415
-
Update on the management of Duchenne muscular dystrophy
-
Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008;93:986-90.
-
(2008)
Arch Dis Child
, vol.93
, pp. 986-990
-
-
Manzur, A.Y.1
Kinali, M.2
Muntoni, F.3
-
77
-
-
77950793623
-
RNA-targeted splice correction therapy for neuromuscular disease
-
Wood MJA, Gait MJ, Yin H. RNA-targeted splice correction therapy for neuromuscular disease. Brain 2010;133: 957-72.
-
(2010)
Brain
, vol.133
, pp. 957-972
-
-
Wood, M.J.A.1
Gait, M.J.2
Yin, H.3
-
78
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007;357:2677-86.
-
(2007)
N Engl J Med
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
-
79
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind placebo-controlled, dose-escalation, proof-of-concept study
-
Kinali M, Arechavala-Gomeza V, Feng L, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009;8:918-28.
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
Arechavala-Gomeza, V.2
Feng, L.3
-
80
-
-
0027284424
-
Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides
-
Dominski Z, Kole R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci USA 1993;90:8673-7.
-
(1993)
Proc Natl Acad SciU SA
, vol.90
, pp. 8673-8677
-
-
Dominski, Z.1
Kole, R.2
-
81
-
-
0029803547
-
Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides
-
Sierakowska H, Sambade MJ, Agrawal S, et al. Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides. Proc Natl Acad Sci USA 1996; 93:12840-4.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 12840-12844
-
-
Sierakowska, H.1
Sambade, M.J.2
Agrawal, S.3
-
82
-
-
0033579478
-
Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides
-
Friedman KJ, Kole J, Cohn JA, et al. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 1999;274:36193-9.
-
(1999)
J Biol Chem
, vol.274
, pp. 36193-36199
-
-
Friedman, K.J.1
Kole, J.2
Cohn, J.A.3
-
83
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Hua Y, Sahashi K, Hung G, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 2010;24:1634-44.
-
(2010)
Genes Dev
, vol.24
, pp. 1634-1644
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
-
84
-
-
79952348568
-
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
-
Passini MA, Bu J, Richards AM, et al. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med 2011; 3:72ra18.
-
(2011)
Sci Transl Med
, vol.3
-
-
Passini, M.A.1
Bu, J.2
Richards, A.M.3
-
85
-
-
0032574744
-
Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs
-
Gorman L, Suter D, Emerick V, et al. Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs. ProcNatl Acad SciUSA 1998;95:4929-34.
-
(1998)
ProcNatl Acad SciUSA
, vol.95
, pp. 4929-4934
-
-
Gorman, L.1
Suter, D.2
Emerick, V.3
-
86
-
-
66749140994
-
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia
-
Vega AI, Perez-Cerda C, Desviat LR, et al. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. HumMutat 2009;30:795-803.
-
(2009)
HumMutat
, vol.30
, pp. 795-803
-
-
Vega, A.I.1
Perez-Cerda, C.2
Desviat, L.R.3
-
87
-
-
59749094710
-
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
-
Davis RL, Homer VM, George PM, et al. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 2009;30: 221-7.
-
(2009)
Hum Mutat
, vol.30
, pp. 221-227
-
-
Davis, R.L.1
Homer, V.M.2
George, P.M.3
-
88
-
-
67650828361
-
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
-
Wheeler TM, Sobczak K, Lueck JD, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009;325:336-9.
-
(2009)
Science
, vol.325
, pp. 336-339
-
-
Wheeler, T.M.1
Sobczak, K.2
Lueck, J.D.3
-
89
-
-
0037388256
-
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
-
Skordis LA, Dunckley MG, Yue B, et al. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. ProcNatl Acad SciUSA 2003;100:4114-9.
-
(2003)
ProcNatl Acad SciUSA
, vol.100
, pp. 4114-4119
-
-
Skordis, L.A.1
Dunckley, M.G.2
Yue, B.3
-
90
-
-
0037313165
-
Correction of disease-associated exon skipping by synthetic exon-specific activators
-
Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 2003;10:120-5.
-
(2003)
Nat Struct Biol
, vol.10
, pp. 120-125
-
-
Cartegni, L.1
Krainer, A.R.2
-
91
-
-
2642530193
-
RNA repair using spliceosome-mediated RNA trans-splicing
-
Mansfield SG, Choa H, Walsh CE. RNA repair using spliceosome-mediated RNA trans-splicing. Trends Mol Med 2004;10:263-8.
-
(2004)
Trends Mol Med
, vol.10
, pp. 263-268
-
-
Mansfield, S.G.1
Choa, H.2
Walsh, C.E.3
-
92
-
-
0036137663
-
Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
-
Liu X, Jiang Q, Mansfield SG, et al. Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat Biotechnol 2002;20:47-52.
-
(2002)
Nat Biotechnol
, vol.20
, pp. 47-52
-
-
Liu, X.1
Jiang, Q.2
Mansfield, S.G.3
-
93
-
-
0042388694
-
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing
-
Chao H, Mansfield SG, Bartel RC, et al. Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. NatMed 2003;9:1015-9.
-
(2003)
NatMed
, vol.9
, pp. 1015-1019
-
-
Chao, H.1
Mansfield, S.G.2
Bartel, R.C.3
-
94
-
-
74849129866
-
Trans-splicing mediated improvement in a severe mouse model of spinal muscular atrophy
-
Coady TH, Lorson CL. Trans-splicing mediated improvement in a severe mouse model of spinal muscular atrophy. JNeurosci 2010;30:126-30.
-
(2010)
JNeurosci
, vol.30
, pp. 126-130
-
-
Coady, T.H.1
Lorson, C.L.2
-
95
-
-
67349204836
-
Biological gene delivery vehicles: beyond viral vectors
-
Seow Y, Wood MJ. Biological gene delivery vehicles: beyond viral vectors. MolTher 2009;17:767-77.
-
(2009)
MolTher
, vol.17
, pp. 767-777
-
-
Seow, Y.1
Wood, M.J.2
-
96
-
-
77957032442
-
Lipid and polymeric carrier-mediated nucleic acid delivery
-
Zhu L, Mahato RI. Lipid and polymeric carrier-mediated nucleic acid delivery. Expert Opin Drug Deliv 2010;7: 1209-26.
-
(2010)
Expert Opin Drug Deliv
, vol.7
, pp. 1209-1226
-
-
Zhu, L.1
Mahato, R.I.2
-
97
-
-
0030668116
-
Characterization of cationic liposome-mediated gene transfer in vivo by intravenous administration
-
Song YK, Liu F, Chu S, et al. Characterization of cationic liposome-mediated gene transfer in vivo by intravenous administration. Hum GeneTher 1997;8:1585-94.
-
(1997)
Hum GeneTher
, vol.8
, pp. 1585-1594
-
-
Song, Y.K.1
Liu, F.2
Chu, S.3
-
98
-
-
77949890248
-
Cell penetrating peptides: overview and applications to the delivery of oligonucleotides
-
Hassane FS, Saleh AF, Abes R, et al. Cell penetrating peptides: overview and applications to the delivery of oligonucleotides. CellMol Life Sci 2010;67:715-26.
-
(2010)
CellMol Life Sci
, vol.67
, pp. 715-726
-
-
Hassane, F.S.1
Saleh, A.F.2
Abes, R.3
-
99
-
-
70350697818
-
A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice
-
Yin H, Moulton HM, Betts C, et al. A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice. Hum Mol Genet 2009;18:4405-14.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4405-4414
-
-
Yin, H.1
Moulton, H.M.2
Betts, C.3
-
100
-
-
56649113066
-
Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle
-
Ivanova GD, Arzumanov A, Abes R, et al. Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle. Nucleic Acids Res 2008;36:6418-28.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6418-6428
-
-
Ivanova, G.D.1
Arzumanov, A.2
Abes, R.3
-
101
-
-
76149130971
-
Alternative splicing: global insights
-
Hallegger M, Llorian M, Smith CWJ. Alternative splicing: global insights. FEBSJ 2010;277:856-66.
-
(2010)
FEBSJ
, vol.277
, pp. 856-866
-
-
Hallegger, M.1
Llorian, M.2
Smith, C.W.J.3
|