-
1
-
-
0029067113
-
A point mutation in the human CD45 gene associated with defective splicing of exon A
-
Thude, H., Hundrieser, J., Wonigeit, K. & Schwinzer, R. A point mutation in the human CD45 gene associated with defective splicing of exon A. Eur. J. Immunol. 25, 2101-2106 (1995).
-
(1995)
Eur. J. Immunol.
, vol.25
, pp. 2101-2106
-
-
Thude, H.1
Hundrieser, J.2
Wonigeit, K.3
Schwinzer, R.4
-
2
-
-
0033529304
-
Structure of tau exon 1A0 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
-
Varani, L. et al. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl Acad. Sci. USA 96, 8229-8234 (1999).
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 8229-8234
-
-
Varani, L.1
-
3
-
-
0033966774
-
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
-
Ars, E. et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet. 9, 237-247 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 237-247
-
-
Ars, E.1
-
4
-
-
0039108539
-
Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
-
Teraoka, S. N. et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am. J. Hum. Genet. 64, 1617-1631 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1617-1631
-
-
Teraoka, S.N.1
-
5
-
-
0037899998
-
New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12
-
Pagani, F. et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum. Mol. Genet. 12, 1111-1120 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1111-1120
-
-
Pagani, F.1
-
6
-
-
0036544858
-
A new type of mutation causes a splicing defect in ATM
-
Pagani, F. et al. A new type of mutation causes a splicing defect in ATM. Nature Genet. 30, 426-429 (2002).
-
(2002)
Nature Genet.
, vol.30
, pp. 426-429
-
-
Pagani, F.1
-
7
-
-
0038712558
-
Missense, nonsense and neutral mutations define juxtaposed regulatory elements of splicing in CFTR exon 9
-
Pagani, F., Buratti, E., Stuani, C. & Baralle, F. E. Missense, nonsense and neutral mutations define juxtaposed regulatory elements of splicing in CFTR exon 9. J. Biol. Chem. 278, 26580-26588 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 26580-26588
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Baralle, F.E.4
-
8
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni, L., Chew, S. L. & Krainer, A. R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nature Rev. Genet. 3, 285-298 (2002).
-
(2002)
Nature Rev. Genet.
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
9
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima, T. & Manley, J. L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nature Genet. 34, 460-463 (2003).
-
(2003)
Nature Genet.
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
10
-
-
0035158730
-
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
-
Liu, H. X., Cartegni, L., Zhang, M. Q. & Krainer, A. R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genet. 27, 55-58 (2001).
-
(2001)
Nature Genet.
, vol.27
, pp. 55-58
-
-
Liu, H.X.1
Cartegni, L.2
Zhang, M.Q.3
Krainer, A.R.4
-
11
-
-
0038819945
-
Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 β
-
Jiang, Z. et al. Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 β. J. Biol. Chem. 278, 18997-19007 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 18997-19007
-
-
Jiang, Z.1
-
12
-
-
0036201584
-
Alternative splicing in the α-galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype
-
Ishii, S., Nakao, S., Minamikawa-Tachino, R., Desnick, R. J. & Fan, J. Q. Alternative splicing in the α-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am. J. Hum. Genet. 70, 994-1002 (2002).
-
(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
-
13
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
Faustino, N. A. & Cooper, T. A. Pre-mRNA splicing and human disease. Genes Dev. 17, 419-437 (2003).
-
(2003)
Genes Dev.
, vol.17
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
14
-
-
0345659221
-
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease
-
Fernandez-Cadenas, I. et al. Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. Neurology 81, 1432-1434 (2003).
-
(2003)
Neurology
, vol.81
, pp. 1432-1434
-
-
Fernandez-Cadenas, I.1
-
15
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
Black, D. L. Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem. 72, 291-336 (2003).
-
(2003)
Annu. Rev. Biochem.
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
16
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
17
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon, M. et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 332, 1475-1480 (1995).
-
(1995)
N. Engl. J. Med.
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
-
18
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu, C. S., Trapnell, B. C., Curristin, S., Cutting, G. R. & Crystal, R. G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet. 3, 151-156 (1993).
-
(1993)
Nature Genet.
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
Cutting, G.R.4
Crystal, R.G.5
-
19
-
-
0031660122
-
Testicular CFTR splice variants in patients with congenital absence of the vas deferens
-
Larriba, S. et al. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum. Mol. Genet. 7, 1739-1743 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1739-1743
-
-
Larriba, S.1
-
20
-
-
0030687683
-
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
-
Mak, V., Jarvi, K. A., Zielenski, J., Durie, P. & Tsui, L. C. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum. Mol. Genet. 8, 2099-2107 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.8
, pp. 2099-2107
-
-
Mak, V.1
Jarvi, K.A.2
Zielenski, J.3
Durie, P.4
Tsui, L.C.5
-
21
-
-
0034625379
-
Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
-
D'Souza, I. & Schellenberg, G. D. Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion. J. Biol. Chem. 275, 17700-17709 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 17700-17709
-
-
D'Souza, I.1
Schellenberg, G.D.2
-
22
-
-
0031921640
-
Statistical features of human exons and their flanking regions
-
Zhang, M. Q. Statistical features of human exons and their flanking regions. Hum. Mol. Genet. 7, 919-932 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 919-932
-
-
Zhang, M.Q.1
-
23
-
-
0037337527
-
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay
-
Baralle, M. et al. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. J. Med. Genet. 40, 220-222 (2003).
-
(2003)
J. Med. Genet.
, vol.40
, pp. 220-222
-
-
Baralle, M.1
-
24
-
-
0344011094
-
Intrinsic differences between authentic and cryptic 5′ splice sites
-
Roca, X., Sachidanandam, R. & Krainer, A. R. Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res. 31, 6321-6333 (2003).
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 6321-6333
-
-
Roca, X.1
Sachidanandam, R.2
Krainer, A.R.3
-
25
-
-
0028865866
-
Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: Four germline mutations, but no evidence of somatic mutation
-
Matsushima, M. et al. Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. Hum. Mol. Genet. 4, 1953-1956 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1953-1956
-
-
Matsushima, M.1
-
26
-
-
0030743391
-
G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection
-
McCullough, A. J. & Berget, S. M. G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol. Cell. Biol. 17, 4562-4571 (1997).
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 4562-4571
-
-
McCullough, A.J.1
Berget, S.M.2
-
27
-
-
0033636996
-
The apoptosis-promoting factor TIA-1 is a regulator of alternative pre- mRNA splicing
-
Forch, P. et al. The apoptosis-promoting factor TIA-1 is a regulator of alternative pre- mRNA splicing. Mol. Cell 6, 1089-1098 (2000).
-
(2000)
Mol. Cell
, vol.6
, pp. 1089-1098
-
-
Forch, P.1
-
28
-
-
0034892609
-
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
-
Metherell, L. A. et al. Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am. J. Hum. Genet. 69, 641-646 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 641-646
-
-
Metherell, L.A.1
-
29
-
-
0034891901
-
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene
-
Christie, P. T., Harding, B., Nesbit, M. A., Whyte, M. P. & Thakker, R. V. X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J. Clin. Endocrinol. Metab. 86, 3840-3844 (2001).
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 3840-3844
-
-
Christie, P.T.1
Harding, B.2
Nesbit, M.A.3
Whyte, M.P.4
Thakker, R.V.5
-
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. The birth of an alternatively spliced exon: 3′ splice-site selection in Alu exons. Science 300, 1286-1291 (2003).
-
(2003)
Science
, vol.300
, pp. 1286-1291
-
-
Lev-Maor, G.1
Sorek, R.2
Shomron, N.3
Ast, G.4
-
31
-
-
1642458353
-
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon
-
Buratti, E. et al. RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol. Cell. Biol. 24, 1387-1400 (2004).
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 1387-1400
-
-
Buratti, E.1
-
32
-
-
0032913877
-
Regulation of fibronectin EDA exon alternative splicing: Possible role of RNA secondary structure for enhancer display
-
Muro, A. F. et al. Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display. Mol. Cell. Biol. 19, 2657-2671 (1999).
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 2657-2671
-
-
Muro, A.F.1
-
33
-
-
0033529188
-
Single-nucleotide polymorphisms can cause different structural folds of mRNA
-
Shen, L. X., Basilion, J. P. & Stanton, V. P. Jr. Single-nucleotide polymorphisms can cause different structural folds of mRNA. Proc. Natl Acad. Sci. USA 96, 7871-7876 (1999).
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 7871-7876
-
-
Shen, L.X.1
Basilion, J.P.2
Stanton Jr., V.P.3
-
34
-
-
0031984931
-
Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55
-
Nagel, R. J., Lancaster, A. M. & Zahler, A. M. Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55. RNA 4, 11-23 (1998).
-
(1998)
RNA
, vol.4
, pp. 11-23
-
-
Nagel, R.J.1
Lancaster, A.M.2
Zahler, A.M.3
-
35
-
-
0030953470
-
A specific RNA hairpin loop structure binds the RNA recognition motifs of the Drosophila SR protein B52
-
Shi, H., Hoffman, B. E. & Lis, J. T. A specific RNA hairpin loop structure binds the RNA recognition motifs of the Drosophila SR protein B52. Mol. Cell. Biol. 17, 2649-2657 (1997).
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 2649-2657
-
-
Shi, H.1
Hoffman, B.E.2
Lis, J.T.3
-
36
-
-
0036849108
-
hnRNP A1 controls HIV-1 mRNA splicing through cooperative binding to intron and exon splicing silencers in the context of a conserved secondary structure
-
Damgaard, C. K., Tange, T. O. & Kjems, J. hnRNP A1 controls HIV-1 mRNA splicing through cooperative binding to intron and exon splicing silencers in the context of a conserved secondary structure. RNA 8, 1401-1415 (2002).
-
(2002)
RNA
, vol.8
, pp. 1401-1415
-
-
Damgaard, C.K.1
Tange, T.O.2
Kjems, J.3
-
37
-
-
0033591225
-
5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
-
Grover, A. et al. 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J. Biol. Chem. 274, 15134-15143 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 15134-15143
-
-
Grover, A.1
-
38
-
-
0034073995
-
Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
-
Jiang, Z., Cote, J., Kwon, J. M., Goate, A. M. & Wu, J. Y. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol. Cell. Biol. 20, 4036-4048 (2000).
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 4036-4048
-
-
Jiang, Z.1
Cote, J.2
Kwon, J.M.3
Goate, A.M.4
Wu, J.Y.5
-
39
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti, E. et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J. 20, 1774-1784 (2001).
-
(2001)
EMBO J.
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
-
40
-
-
0034647916
-
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
-
Pagani, F. et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J. Biol. Chem. 275, 21041-21047 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 21041-21047
-
-
Pagani, F.1
-
41
-
-
1942461608
-
Why does a variation in the number of TG repeats in CFTR intron 8 influence disease penetrance?
-
in the press
-
Buratti, E., Brindisi, A., Pagani, F. & Baralle, F. E. Why does a variation in the number of TG repeats in CFTR intron 8 influence disease penetrance? Am. J. Hum. Genet. (in the press).
-
Am. J. Hum. Genet.
-
-
Buratti, E.1
Brindisi, A.2
Pagani, F.3
Baralle, F.E.4
-
42
-
-
0043244855
-
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
-
Buchner, D. A., Trudeau, M. & Meisler, M. H. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-969 (2003).
-
(2003)
Science
, vol.301
, pp. 967-969
-
-
Buchner, D.A.1
Trudeau, M.2
Meisler, M.H.3
-
43
-
-
0042318559
-
Genetics. Modifying the message
-
Nadeau, J. H. Genetics. Modifying the message. Science 301, 927-928 (2003).
-
(2003)
Science
, vol.301
, pp. 927-928
-
-
Nadeau, J.H.1
-
45
-
-
0347623371
-
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
-
Johnson, J. M. et al. Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 302, 2141-2144 (2003).
-
(2003)
Science
, vol.302
, pp. 2141-2144
-
-
Johnson, J.M.1
-
46
-
-
0037041395
-
An extensive network of coupling among gene expression machines
-
Maniatis, T. & Reed, R. An extensive network of coupling among gene expression machines. Nature 416, 499-506 (2002).
-
(2002)
Nature
, vol.416
, pp. 499-506
-
-
Maniatis, T.1
Reed, R.2
-
47
-
-
0037154967
-
Integrating mRNA processing with transcription
-
Proudfoot, N. J., Furger, A. & Dye, M. J. Integrating mRNA processing with transcription. Cell 108, 501-512 (2002).
-
(2002)
Cell
, vol.108
, pp. 501-512
-
-
Proudfoot, N.J.1
Furger, A.2
Dye, M.J.3
-
48
-
-
0032534537
-
Co-transcriptional commitment to alternative splice site selection
-
Roberts, G. C., Gooding, C., Mak, H. Y., Proudfoot, N. J. & Smith, C. W. Co-transcriptional commitment to alternative splice site selection. Nucleic Acids Res. 26, 5568-5572 (1998).
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 5568-5572
-
-
Roberts, G.C.1
Gooding, C.2
Mak, H.Y.3
Proudfoot, N.J.4
Smith, C.W.5
-
49
-
-
0242490558
-
Dawdling polymerases allow introns time to splice
-
Proudfoot, N. J. Dawdling polymerases allow introns time to splice. Nature Struct. Biol. 10, 876-878 (2003).
-
(2003)
Nature Struct. Biol.
, vol.10
, pp. 876-878
-
-
Proudfoot, N.J.1
-
50
-
-
0037370902
-
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen α gene (FGA)
-
Attanasio, C., David, A. & Neerman-Arbez, M. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen α gene (FGA). Blood 101, 1851-1856 (2003).
-
(2003)
Blood
, vol.101
, pp. 1851-1856
-
-
Attanasio, C.1
David, A.2
Neerman-Arbez, M.3
-
51
-
-
0033365194
-
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: Influence of intron splice order on outcome of splice-site mutation
-
Schwarze, U., Starman, B. J. & Byers, P. H. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am. J. Hum. Genet. 65, 336-344 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 336-344
-
-
Schwarze, U.1
Starman, B.J.2
Byers, P.H.3
-
52
-
-
0042359360
-
Functional analysis of human promoter polymorphisms
-
Hoogendoorn, B. et al. Functional analysis of human promoter polymorphisms. Hum. Mol. Genet. 12, 2249-2254 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2249-2254
-
-
Hoogendoorn, B.1
-
53
-
-
0037449704
-
Promoter architecture modulates CFTR exon 9 skipping
-
Pagani, F., Stuani, C., Zuccato, E., Kornblihtt, A. R. & Baralle, F. E. Promoter architecture modulates CFTR exon 9 skipping. J. Biol. Chem. 278, 1511-1517 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 1511-1517
-
-
Pagani, F.1
Stuani, C.2
Zuccato, E.3
Kornblihtt, A.R.4
Baralle, F.E.5
-
54
-
-
0033180615
-
Coupling of transcription with alternative splicing: RNA pol II promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer
-
Cramer, P. et al. Coupling of transcription with alternative splicing: RNA pol II promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer. Mol. Cell 4, 251-258 (1999).
-
(1999)
Mol. Cell
, vol.4
, pp. 251-258
-
-
Cramer, P.1
-
55
-
-
0030761276
-
Functional association between promoter structure and transcript alternative splicing
-
Cramer, P., Pesce, C. G., Baralle, F. E. & Kornblihtt, A. R. Functional association between promoter structure and transcript alternative splicing. Proc. Natl Acad. Sci. USA 94, 11456-11460 (1997).
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 11456-11460
-
-
Cramer, P.1
Pesce, C.G.2
Baralle, F.E.3
Kornblihtt, A.R.4
-
56
-
-
0033638283
-
Direct coupling of transcription and mRNA processing through the thermogenic co-activator PGC-1
-
Monsalve, M. et al. Direct coupling of transcription and mRNA processing through the thermogenic co-activator PGC-1. Mol. Cell 6, 307-316 (2000).
-
(2000)
Mol. Cell
, vol.6
, pp. 307-316
-
-
Monsalve, M.1
-
57
-
-
0042818072
-
Nuclear co-activator-62 kDa/Ski-interacting protein is a nuclear matrix-associated co-activator that may couple vitamin D receptor-mediated transcription and RNA splicing
-
Zhang, C. et al. Nuclear co-activator-62 kDa/Ski-interacting protein is a nuclear matrix-associated co-activator that may couple vitamin D receptor-mediated transcription and RNA splicing. J. Biol. Chem. 278, 35325-35336 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 35325-35336
-
-
Zhang, C.1
-
58
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22, 231-238 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
-
59
-
-
0032990407
-
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
-
Halushka, M. K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet. 22, 239-247 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 239-247
-
-
Halushka, M.K.1
-
60
-
-
0037047644
-
Predictive identification of exonic splicing enhancers in human genes
-
Fairbrother, W. G., Yeh, R. F., Sharp, P. A. & Burge, C. B. Predictive identification of exonic splicing enhancers in human genes. Science 297, 1007-1013 (2002).
-
(2002)
Science
, vol.297
, pp. 1007-1013
-
-
Fairbrother, W.G.1
Yeh, R.F.2
Sharp, P.A.3
Burge, C.B.4
-
61
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni, L. & Krainer, A. R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature Genet. 30, 377-384 (2002).
-
(2002)
Nature Genet.
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
62
-
-
0027185151
-
A splicing enhancer complex controls alternative splicing of doublesex pre-mRNA
-
Tian, M. & Maniatis, T. A splicing enhancer complex controls alternative splicing of doublesex pre-mRNA. Cell 74, 105-114 (1993).
-
(1993)
Cell
, vol.74
, pp. 105-114
-
-
Tian, M.1
Maniatis, T.2
-
63
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson, C. L. & Androphy, E. J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9, 259-265 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
|