-
1
-
-
12244307905
-
Heterogous dystrophin mRNAs produced by a novel splice acceptor site mutation in intermediate dystrophinopathy
-
Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M (2003) Heterogous dystrophin mRNAs produced by a novel splice acceptor site mutation in intermediate dystrophinopathy. Pediatr Res 53:125-131
-
(2003)
Pediatr Res
, vol.53
, pp. 125-131
-
-
Adachi, K.1
Takeshima, Y.2
Wada, H.3
Yagi, M.4
Nakamura, H.5
Matsuo, M.6
-
2
-
-
0027470203
-
The structural and functional diversity of dystrophin
-
Ahn AH, Kunkel LM (1993) The structural and functional diversity of dystrophin. Nat Genet 3:283-291
-
(1993)
Nat Genet
, vol.3
, pp. 283-291
-
-
Ahn, A.H.1
Kunkel, L.M.2
-
3
-
-
24644493193
-
Sequence conservation, relative isoform frequencies, and nonsense-mediated decay in evolutionarily conserved alternative splicing
-
Baek D, Green P (2005) Sequence conservation, relative isoform frequencies, and nonsense-mediated decay in evolutionarily conserved alternative splicing. Proc Natl Acad Sci USA 102:12813-12818
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 12813-12818
-
-
Baek, D.1
Green, P.2
-
4
-
-
0030015988
-
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts
-
Barbieri AM, Soriani N, Ferlini A, Michelato A, Ferrari M, Carrera P (1996) Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. Eur J Hum Genet 4:183-187
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 183-187
-
-
Barbieri, A.M.1
Soriani, N.2
Ferlini, A.3
Michelato, A.4
Ferrari, M.5
Carrera, P.6
-
5
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
6
-
-
10744219888
-
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
-
Beroud C, Carrie A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carre-Pigeon F, Mayer M, Bellance R, Recan D, Chelly J, Kaplan JC, Leturcq F (2004) Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord 14:10-18
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 10-18
-
-
Beroud, C.1
Carrie, A.2
Beldjord, C.3
Deburgrave, N.4
Llense, S.5
Carelle, N.6
Peccate, C.7
Cuisset, J.M.8
Pandit, F.9
Carre-Pigeon, F.10
Mayer, M.11
Bellance, R.12
Recan, D.13
Chelly, J.14
Kaplan, J.C.15
Leturcq, F.16
-
8
-
-
22144486964
-
Subdivision of large introns in Drosophila by recursive splicing at nonexonic elements
-
Burnette JM, Miyamoto-Sato E, Schaub MA, Conklin J, Lopez AJ (2005) Subdivision of large introns in Drosophila by recursive splicing at nonexonic elements. Genetics 170:661-674
-
(2005)
Genetics
, vol.170
, pp. 661-674
-
-
Burnette, J.M.1
Miyamoto-Sato, E.2
Schaub, M.A.3
Conklin, J.4
Lopez, A.J.5
-
9
-
-
0027214837
-
An alternative dystrophin transcript specific to peripheral nerve
-
Byers TJ, Lidov HG, Kunkel LM (1993) An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 4:77-81
-
(1993)
Nat Genet
, vol.4
, pp. 77-81
-
-
Byers, T.J.1
Lidov, H.G.2
Kunkel, L.M.3
-
10
-
-
24644519490
-
The transcriptional landscape of the mammalian genome
-
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R et al. (2005) The transcriptional landscape of the mammalian genome. Science 309:1559-1563
-
(2005)
Science
, vol.309
, pp. 1559-1563
-
-
Carninci, P.1
Kasukawa, T.2
Katayama, S.3
Gough, J.4
Frith, M.C.5
Maeda, N.6
Oyama, R.7
-
11
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
12
-
-
0026018070
-
Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients
-
Chelly J, Gilgenkrantz H, Hugnot JP, Hamard G, Lambert M, Recan D, Akli S, Cometto M, Kahn A, Kaplan JC (1991) Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. J Clin Invest 88:1161-1166
-
(1991)
J Clin Invest
, vol.88
, pp. 1161-1166
-
-
Chelly, J.1
Gilgenkrantz, H.2
Hugnot, J.P.3
Hamard, G.4
Lambert, M.5
Recan, D.6
Akli, S.7
Cometto, M.8
Kahn, A.9
Kaplan, J.C.10
-
13
-
-
24644505259
-
Fewer genes, more noncoding RNA
-
Claverie JM (2005) Fewer genes, more noncoding RNA. Science 309:1529-1530
-
(2005)
Science
, vol.309
, pp. 1529-1530
-
-
Claverie, J.M.1
-
14
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847
-
(1989)
Am J Hum Genet
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.4
Ginjaar, H.B.5
Wapenaar, M.C.6
Van Paassen, H.M.7
Van Broeckhoven, C.8
Pearson, P.L.9
Van Ommen, G.J.10
-
15
-
-
0343851128
-
A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution
-
Dwi Pramono ZA, Takeshima Y, Surono A, Ishida T, Matsuo M (2000) A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution. Biochem Biophys Res Commun 267:321-328
-
(2000)
Biochem Biophys Res Commun
, vol.267
, pp. 321-328
-
-
Dwi Pramono, Z.A.1
Takeshima, Y.2
Surono, A.3
Ishida, T.4
Matsuo, M.5
-
16
-
-
0347988093
-
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths
-
Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dork T, Burge C, Gatti RA (2004) Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat 23:67-76
-
(2004)
Hum Mutat
, vol.23
, pp. 67-76
-
-
Eng, L.1
Coutinho, G.2
Nahas, S.3
Yeo, G.4
Tanouye, R.5
Babaei, M.6
Dork, T.7
Burge, C.8
Gatti, R.A.9
-
17
-
-
0026641794
-
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
-
Gangopadhyay SB, Sherratt TG, Heckmatt JZ, Dubowitz V, Miller G, Shokeir M, Ray PN, Strong PN, Worton RG (1992) Dystrophin in frameshift deletion patients with Becker muscular dystrophy. Am J Hum Genet 51:562-570
-
(1992)
Am J Hum Genet
, vol.51
, pp. 562-570
-
-
Gangopadhyay, S.B.1
Sherratt, T.G.2
Heckmatt, J.Z.3
Dubowitz, V.4
Miller, G.5
Shokeir, M.6
Ray, P.N.7
Strong, P.N.8
Worton, R.G.9
-
18
-
-
0026937998
-
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
-
Gorecki DC, Monaco AP, Derry JMJ, Walker AP, Barnard EA, Barnard PJ (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1:505-510
-
(1992)
Hum Mol Genet
, vol.1
, pp. 505-510
-
-
Gorecki, D.C.1
Monaco, A.P.2
Derry, J.M.J.3
Walker, A.P.4
Barnard, E.A.5
Barnard, P.J.6
-
19
-
-
0032247577
-
Generation of alternative Ultrabithorax isoforms and stepwise removal of a large intron by resplicing at exon-exon junctions
-
Hatton AR, Subramaniam V, Lopez AJ (1998) Generation of alternative Ultrabithorax isoforms and stepwise removal of a large intron by resplicing at exon-exon junctions. Mol Cell 2:787-796
-
(1998)
Mol Cell
, vol.2
, pp. 787-796
-
-
Hatton, A.R.1
Subramaniam, V.2
Lopez, A.J.3
-
21
-
-
0030025402
-
Expression and regulation of the dystrophin purkinje promoter in human skeletal muscle, heart, and brain
-
Holder E, Maeda M, Bies RD (1996) Expression and regulation of the dystrophin purkinje promoter in human skeletal muscle, heart, and brain. Hum Genet 97:232-239
-
(1996)
Hum Genet
, vol.97
, pp. 232-239
-
-
Holder, E.1
Maeda, M.2
Bies, R.D.3
-
22
-
-
0031955191
-
Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
-
Ikezawa M, Minami N, Takahashi M, Goto Y, Miike T, Nonaka I (1998) Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis. Brain Dev 20:165-168
-
(1998)
Brain Dev
, vol.20
, pp. 165-168
-
-
Ikezawa, M.1
Minami, N.2
Takahashi, M.3
Goto, Y.4
Miike, T.5
Nonaka, I.6
-
23
-
-
33744903637
-
Novel cryptic exons identified in introns 2 and 3 of the human dystroiphin gene with duplication of exons 8-11
-
Ishibashi K, Takeshima Y, Yagi M, Nishiyama A, Matsuo M (2006) Novel cryptic exons identified in introns 2 and 3 of the human dystroiphin gene with duplication of exons 8-11. Kobe J Med Sci 52:61-75
-
(2006)
Kobe J Med Sci
, vol.52
, pp. 61-75
-
-
Ishibashi, K.1
Takeshima, Y.2
Yagi, M.3
Nishiyama, A.4
Matsuo, M.5
-
24
-
-
0036201584
-
Alternative splicing in the alpha-galactosidase a gene: Increased exon inclusion results in the Fabry cardiac phenotype
-
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ (2002) Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 70:994-1002
-
(2002)
Am J Hum Genet
, vol.70
, pp. 994-1002
-
-
Ishii, S.1
Nakao, S.2
Minamikawa-Tachino, R.3
Desnick, R.J.4
Fan, J.Q.5
-
25
-
-
0025181885
-
Molecular and functional analysis of the muscle specific promoter region of the Duchenne muscular dystrophy gene
-
Klamut HJ, Gangopadhyay SB, Worton RG, Ray PN (1990) Molecular and functional analysis of the muscle specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol 10:193-205
-
(1990)
Mol Cell Biol
, vol.10
, pp. 193-205
-
-
Klamut, H.J.1
Gangopadhyay, S.B.2
Worton, R.G.3
Ray, P.N.4
-
26
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
27
-
-
0036429269
-
Finding signals that regulate alternative splicing in the post-genomic era
-
Ladd AN, Cooper TA (2002) Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol 3:8.1-8.16
-
(2002)
Genome Biol
, vol.3
, pp. 81-816
-
-
Ladd, A.N.1
Cooper, T.A.2
-
29
-
-
0027504687
-
A housekeeping type promoter, located in the 3′ region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene
-
Lederfein D, Yaffe D, Nudel U (1993) A housekeeping type promoter, located in the 3′ region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene. Hum Mol Genet 2:1883-1888
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1883-1888
-
-
Lederfein, D.1
Yaffe, D.2
Nudel, U.3
-
30
-
-
0038701605
-
The birth of an alternatively spliced exon: 3′ splice-site selection in Alu exons
-
Lev-Maor G, Sorek R, Shomron N, Ast G (2003) The birth of an alternatively spliced exon: 3′ splice-site selection in Alu exons. Science 300:1288-1291
-
(2003)
Science
, vol.300
, pp. 1288-1291
-
-
Lev-Maor, G.1
Sorek, R.2
Shomron, N.3
Ast, G.4
-
31
-
-
0028937525
-
Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
-
Lidov HG, Selig S, Kunkel LM (1995) Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 4:329-335
-
(1995)
Hum Mol Genet
, vol.4
, pp. 329-335
-
-
Lidov, H.G.1
Selig, S.2
Kunkel, L.M.3
-
32
-
-
0023812570
-
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
-
Malhotra SB, Hart KA, Klamut HJ, Thomas NST, Bodrug E, Burghes AHM, Borrow M, Harper PS, Thompson W, Ray PN (1988) Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242:755-759
-
(1988)
Science
, vol.242
, pp. 755-759
-
-
Malhotra, S.B.1
Hart, K.A.2
Klamut, H.J.3
Thomas, N.S.T.4
Bodrug, E.5
Burghes, A.H.M.6
Borrow, M.7
Harper, P.S.8
Thompson, W.9
Ray, P.N.10
-
33
-
-
0742323558
-
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
-
Maquat LE (2004) Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:89-99
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 89-99
-
-
Maquat, L.E.1
-
34
-
-
0025102166
-
A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene
-
Matsuo M, Masumura T, Nakajima T, Kitoh Y, Takumi T, Nishio H, Koga J, Nakamura H (1990) A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene. Biochem Biophys Res Commun 170:963-967
-
(1990)
Biochem Biophys Res Commun
, vol.170
, pp. 963-967
-
-
Matsuo, M.1
Masumura, T.2
Nakajima, T.3
Kitoh, Y.4
Takumi, T.5
Nishio, H.6
Koga, J.7
Nakamura, H.8
-
35
-
-
0026046262
-
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
-
Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H (1991) Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest 87:2127-2131
-
(1991)
J Clin Invest
, vol.87
, pp. 2127-2131
-
-
Matsuo, M.1
Masumura, T.2
Nishio, H.3
Nakajima, T.4
Kitoh, Y.5
Takumi, T.6
Koga, J.7
Nakamura, H.8
-
36
-
-
0031105604
-
The evolution of an intron: Analysis of a long, deletion-prone intron in the human dystrophin gene
-
McNaughton JC, Hughes G, Jones WA, Stockwell PA, Klamut HJ, Petersen GB (1997) The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene. Genomics 40:294-304
-
(1997)
Genomics
, vol.40
, pp. 294-304
-
-
McNaughton, J.C.1
Hughes, G.2
Jones, W.A.3
Stockwell, P.A.4
Klamut, H.J.5
Petersen, G.B.6
-
37
-
-
0034892609
-
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
-
Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ (2001) Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 69:641-646
-
(2001)
Am J Hum Genet
, vol.69
, pp. 641-646
-
-
Metherell, L.A.1
Akker, S.A.2
Munroe, P.B.3
Rose, S.J.4
Caulfield, M.5
Savage, M.O.6
Chew, S.L.7
Clark, A.J.8
-
38
-
-
0027936780
-
Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter
-
Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1994) Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest 94:1037-1042
-
(1994)
J Clin Invest
, vol.94
, pp. 1037-1042
-
-
Nishio, H.1
Takeshima, Y.2
Narita, N.3
Yanagawa, H.4
Suzuki, Y.5
Ishikawa, Y.6
Minami, R.7
Nakamura, H.8
Matsuo, M.9
-
39
-
-
0036544858
-
A new type of mutation causes a splicing defect in ATM
-
Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE (2002) A new type of mutation causes a splicing defect in ATM. Nature Genet 30:426-429
-
(2002)
Nature Genet
, vol.30
, pp. 426-429
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Bendix, R.4
Dork, T.5
Baralle, F.E.6
-
40
-
-
0027172743
-
Dystrophin expression in the human retina is required for normal function as defined by electroretinography
-
Pillers D-AM, Bulman DE, Welber RG, Sigesmund DA, Musarella MA, Powell BR, Murphey WH, Westall C, Panton C, Becker LE, Worton RG, Ray PN (1993) Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nature Genet 4:82-86
-
(1993)
Nature Genet
, vol.4
, pp. 82-86
-
-
D-Am, P.1
Bulman, D.E.2
Welber, R.G.3
Sigesmund, D.A.4
Musarella, M.A.5
Powell, B.R.6
Murphey, W.H.7
Westall, C.8
Panton, C.9
Becker, L.E.10
Worton, R.G.11
Ray, P.N.12
-
41
-
-
22544469467
-
Silencers regulate both constitutive and alternative splicing events in mammals
-
Pozzoli U, Sironi M (2005) Silencers regulate both constitutive and alternative splicing events in mammals. Cell Mol Life Sci 62:1579-1604
-
(2005)
Cell Mol Life Sci
, vol.62
, pp. 1579-1604
-
-
Pozzoli, U.1
Sironi, M.2
-
42
-
-
0027976166
-
An explanation for the constitutive exon 9 cassette splicing of the DMD gene
-
Reiss J, Rininsland F (1994) An explanation for the constitutive exon 9 cassette splicing of the DMD gene. Hum Mol Genet 3:295-298
-
(1994)
Hum Mol Genet
, vol.3
, pp. 295-298
-
-
Reiss, J.1
Rininsland, F.2
-
43
-
-
0026343877
-
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
-
Roberts RG, Barby TF, Manners E, Bobrow M, Bentley DR (1991) Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 49:298-310
-
(1991)
Am J Hum Genet
, vol.49
, pp. 298-310
-
-
Roberts, R.G.1
Barby, T.F.2
Manners, E.3
Bobrow, M.4
Bentley, D.R.5
-
44
-
-
0027198584
-
Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts
-
Roberts RG, Bentley DR, Bobrow M (1993) Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts. Hum Mutat 2:293-299
-
(1993)
Hum Mutat
, vol.2
, pp. 293-299
-
-
Roberts, R.G.1
Bentley, D.R.2
Bobrow, M.3
-
45
-
-
0344011094
-
Intrinsic differences between authentic and cryptic 5′ splice sites
-
Roca X, Sachidanandam R, Krainer AR (2003) Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res 31:6321-6333
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 6321-6333
-
-
Roca, X.1
Sachidanandam, R.2
Krainer, A.R.3
-
46
-
-
0025321246
-
Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project
-
Senapathy P, Shapiro MB, Harris NL (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol 183:252-278
-
(1990)
Methods Enzymol
, vol.183
, pp. 252-278
-
-
Senapathy, P.1
Shapiro, M.B.2
Harris, N.L.3
-
47
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
48
-
-
0030725216
-
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
-
Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M (1997) Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 100:2204-2210
-
(1997)
J Clin Invest
, vol.100
, pp. 2204-2210
-
-
Shiga, N.1
Takeshima, Y.2
Sakamoto, H.3
Inoue, K.4
Yokota, Y.5
Yokoyama, M.6
Matsuo, M.7
-
49
-
-
2642513654
-
Silencer elements as possible inhibitors of pseudoexon splicing
-
Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U (2004) Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res 32:1783-1791
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 1783-1791
-
-
Sironi, M.1
Menozzi, G.2
Riva, L.3
Cagliani, R.4
Comi, G.P.5
Bresolin, N.6
Giorda, R.7
Pozzoli, U.8
-
50
-
-
0034904757
-
Analysis of splicing parameters in the dystrophin gene: Relevance for physiological and pathogenetic splicing mechanisms
-
Sironi M, Pozzoli U, Cagliani R, Comi GP, Bardoni A, Bresolin N (2001) Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms. Hum Genet 109:73-84
-
(2001)
Hum Genet
, vol.109
, pp. 73-84
-
-
Sironi, M.1
Pozzoli, U.2
Cagliani, R.3
Comi, G.P.4
Bardoni, A.5
Bresolin, N.6
-
51
-
-
1942534661
-
Minimal conditions for exonization of intronic sequences: 5′ splice site formation in alu exons
-
Sorek R, Lev-Maor G, Reznik M, Dagan T, Belinky F, Graur D, Ast G (2004) Minimal conditions for exonization of intronic sequences: 5′ splice site formation in alu exons. Mol Cell 14:221-231
-
(2004)
Mol Cell
, vol.14
, pp. 221-231
-
-
Sorek, R.1
Lev-Maor, G.2
Reznik, M.3
Dagan, T.4
Belinky, F.5
Graur, D.6
Ast, G.7
-
52
-
-
0036246289
-
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
-
Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M (2002) A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5. J Hum Genet 47:196-201
-
(2002)
J Hum Genet
, vol.47
, pp. 196-201
-
-
Suminaga, R.1
Takeshima, Y.2
Adachi, K.3
Yagi, M.4
Nakamura, H.5
Matsuo, M.6
-
53
-
-
0033846543
-
Multiple splicing defects in an intronic false exon
-
Sun H, Chasin LA (2000) Multiple splicing defects in an intronic false exon. Mol Cell Biol 20:6414-6425
-
(2000)
Mol Cell Biol
, vol.20
, pp. 6414-6425
-
-
Sun, H.1
Chasin, L.A.2
-
54
-
-
0032976697
-
Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
-
Surono A, Takeshima Y, Wibawa T, Ikezawa M, Nonaka I, Matsuo M (1999) Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. Hum Mol Genet 8:493-500
-
(1999)
Hum Mol Genet
, vol.8
, pp. 493-500
-
-
Surono, A.1
Takeshima, Y.2
Wibawa, T.3
Ikezawa, M.4
Nonaka, I.5
Matsuo, M.6
-
55
-
-
0031590418
-
Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5′ region of the dystrophin gene in human skeletal muscle
-
Surono A, Takeshima Y, Wibawa T, Pramono ZA, Matsuo M (1997) Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5′ region of the dystrophin gene in human skeletal muscle. Biochem Biophys Res Commun 239:895-899
-
(1997)
Biochem Biophys Res Commun
, vol.239
, pp. 895-899
-
-
Surono, A.1
Takeshima, Y.2
Wibawa, T.3
Pramono, Z.A.4
Matsuo, M.5
-
56
-
-
20544472586
-
A G-to-A transition at the fifth position of intron 32 of the dystrophin gene inactivates a splice donor site both in vivo and in vitro
-
Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M (2005) A G-to-A transition at the fifth position of intron 32 of the dystrophin gene inactivates a splice donor site both in vivo and in vitro. Mol Genet Metab 85:213-219
-
(2005)
Mol Genet Metab
, vol.85
, pp. 213-219
-
-
Thi Tran, H.T.1
Takeshima, Y.2
Surono, A.3
Yagi, M.4
Wada, H.5
Matsuo, M.6
-
57
-
-
0029947228
-
Alternative splicing of dystrophin exon 4 in normal human muscle
-
Torelli S, Muntoni F (1996) Alternative splicing of dystrophin exon 4 in normal human muscle. Hum Genet 97:521-523
-
(1996)
Hum Genet
, vol.97
, pp. 521-523
-
-
Torelli, S.1
Muntoni, F.2
-
58
-
-
25444529489
-
A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene
-
Tran VK, Zhang Z, Yagi M, Nishiyama A, Habara Y, Takeshima Y, Matsuo M (2005) A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene. J Hum Genet 50:425-433
-
(2005)
J Hum Genet
, vol.50
, pp. 425-433
-
-
Tran, V.K.1
Zhang, Z.2
Yagi, M.3
Nishiyama, A.4
Habara, Y.5
Takeshima, Y.6
Matsuo, M.7
-
59
-
-
0038657626
-
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
-
Tuffery-Giraud S, Saquet C, Chambert S, Claustres M (2003) Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat 21:608-614
-
(2003)
Hum Mutat
, vol.21
, pp. 608-614
-
-
Tuffery-Giraud, S.1
Saquet, C.2
Chambert, S.3
Claustres, M.4
-
60
-
-
0037318192
-
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy
-
Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M (2003) Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy. Hum Genet 112:164-170
-
(2003)
Hum Genet
, vol.112
, pp. 164-170
-
-
Yagi, M.1
Takeshima, Y.2
Wada, H.3
Nakamura, H.4
Matsuo, M.5
-
61
-
-
14544277546
-
Identification and analysis of alternative splicing events conserved in human and mouse
-
Yeo GW, Van Nostrand E, Holste D, Poggio T, Burge CB (2005) Identification and analysis of alternative splicing events conserved in human and mouse. Proc Natl Acad Sci USA 102:2850-2855
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 2850-2855
-
-
Yeo, G.W.1
Van Nostrand, E.2
Holste, D.3
Poggio, T.4
Burge, C.B.5
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