-
1
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni, L., Chew, S. L., and Krainer, A. R. (2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat. Rev. Genet. 3, 285–298.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
2
-
-
0038712558
-
Missense, nonsense and neutral mutations define juxtaposed regulatory elements of splicing in CFTR Exon 9
-
Pagani, F., Buratti, E., Stuani, C., and Baralle, F. E. (2003) Missense, nonsense and neutral mutations define juxtaposed regulatory elements of splicing in CFTR Exon 9. J. Biol. Chem. 278, 26580–26588.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 26580-26588
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Baralle, F.E.4
-
3
-
-
0037899998
-
New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12
-
Pagani, F., Stuani, C., Tzetis, M., Kanavakis, E., Efthymiadou, A., Doudounakis, S. et al. (2003) 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)
Hum. Mol. Genet.
, vol.12
, pp. 1111-1120
-
-
Pagani, F.1
Stuani, C.2
Tzetis, M.3
Kanavakis, E.4
Efthymiadou, A.5
Doudounakis, S.6
-
4
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
Faustino, N. A., and Cooper, T. A. (2003) Pre-mRNA splicing and human disease. Genes Dev. 17, 419–437.
-
(2003)
Genes Dev
, vol.17
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
5
-
-
1942467065
-
Genomic variants in exons and introns: Identifying the splicing spoilers
-
Pagani, F., and Baralle, F. E. (2004) Genomic variants in exons and introns: Identifying the splicing spoilers. Nat. Rev. Genet. 5, 389–396.
-
(2004)
Nat. Rev. Genet.
, vol.5
, pp. 389-396
-
-
Pagani, F.1
Baralle, F.E.2
-
6
-
-
33746855164
-
Defective splicing, disease and therapy: Searching for master checkpoints in exon definition
-
Buratti, E., Baralle, M., and Baralle, F. E. (2006) Defective splicing, disease and therapy: Searching for master checkpoints in exon definition. Nucleic Acids Res. 34, 3494–3510.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 3494-3510
-
-
Buratti, E.1
Baralle, M.2
Baralle, F.E.3
-
7
-
-
27944439248
-
Use of minigene systems to dissect alternative splicing elements
-
Cooper, T. A. (2005) Use of minigene systems to dissect alternative splicing elements. Methods 37, 331–340.
-
(2005)
Methods
, vol.37
, pp. 331-340
-
-
Cooper, T.A.1
-
8
-
-
18144386947
-
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
-
Pagani, F., Raponi, M., and Baralle, F. E. (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc. Natl. Acad. Sci. USA 102, 6368–6372.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 6368-6372
-
-
Pagani, F.1
Raponi, M.2
Baralle, F.E.3
-
9
-
-
27944488662
-
Use of RNA interference to dissect the roles of trans-acting factors in alternative pre-mRNA splicing
-
Park, J. W., and Graveley, B. R. (2005) Use of RNA interference to dissect the roles of trans-acting factors in alternative pre-mRNA splicing. Methods 37, 341–344.
-
(2005)
Methods
, vol.37
, pp. 341-344
-
-
Park, J.W.1
Graveley, B.R.2
-
11
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regu- lator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
Cuppens, H., Lin, W., Jaspers, M., Costes, B., Teng, H., Vankeerberghen, A. J. et al. (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regu- lator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Clin. Invest. 101, 487–496.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
Costes, B.4
Teng, H.5
Vankeerberghen, A.J.6
-
12
-
-
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., and Crystal, R. G. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Genet. 3, 151–156.
-
(1993)
Nat. 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
-
13
-
-
0035965309
-
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
-
Buratti, E., and Baralle, F. E. (2001) Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J. Biol. Chem. 276, 36337–36343.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 36337-36343
-
-
Buratti, E.1
Baralle, F.E.2
-
14
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti, E., Dörk, T., Zuccato, E., Pagani, F., Romano, M., and Baralle, F. E. (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J. 20, 1774–1784.
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
Dörk, T.2
Zuccato, E.3
Pagani, F.4
Romano, M.5
Baralle, F.E.6
-
15
-
-
32344435621
-
TDP43 depletion rescues aberrant CFTR exon 9 skipping
-
Ayala, Y. M., Pagani, F., and Baralle, F. E. (2006) TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett. 580, 1339–1344.
-
(2006)
FEBS Lett
, vol.580
, pp. 1339-1344
-
-
Ayala, Y.M.1
Pagani, F.2
Baralle, F.E.3
-
16
-
-
67651151305
-
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo
-
D’Ambrogio, A., Buratti, E., Stuani, C., Guarnaccia, C., Romano, M., Ayala, Y. M. et al. (2009) Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res. 37, 4116–4126.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 4116-4126
-
-
D’Ambrogio, A.1
Buratti, E.2
Stuani, C.3
Guarnaccia, C.4
Romano, M.5
Ayala, Y.M.6
-
17
-
-
0034647916
-
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
-
Pagani, F., Buratti, E., Stuani, C., Romano, M., Zuccato, E., Niksic, M. et al. (2000) Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J. Biol. Chem. 275, 21041–21047.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 21041-21047
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Romano, M.4
Zuccato, E.5
Niksic, M.6
-
18
-
-
0032756818
-
Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
-
Niksic, M., Romano, M., Buratti, E., Pagani, F., and Baralle, F. E. (1999) Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum. Mol. Genet. 8, 2339–2349.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2339-2349
-
-
Niksic, M.1
Romano, M.2
Buratti, E.3
Pagani, F.4
Baralle, F.E.5
-
19
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
Cartegni, L., Wang, J., Zhu, Z., Zhang, M. Q., and Krainer, A. R. (2003) ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31, 3568–3571.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
20
-
-
0037047644
-
Predictive identification of exonic splicing enhancers in human genes
-
Fairbrother, W. G., Yeh, R. F., Sharp, P. A., and Burge, C. B. (2002) Predictive identification of exonic splicing enhancers in human genes. Science 297, 1007–1013.
-
(2002)
Science
, vol.297
, pp. 1007-1013
-
-
Fairbrother, W.G.1
Yeh, R.F.2
Sharp, P.A.3
Burge, C.B.4
-
21
-
-
19344367734
-
Single nucleotide polymorphism-based validation of exonic splicing enhancers
-
Fairbrother, W. G., Holste, D., Burge, C. B., and Sharp, P. A. (2004) Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol. 2, E268.
-
(2004)
Plos Biol
, vol.2
, pp. E268
-
-
Fairbrother, W.G.1
Holste, D.2
Burge, C.B.3
Sharp, P.A.4
-
22
-
-
2642525438
-
Computational definition of sequence motifs governing constitutive exon splicing
-
Zhang, X. H., and Chasin, L. A. (2004) Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev. 18, 1241–1250.
-
(2004)
Genes Dev
, vol.18
, pp. 1241-1250
-
-
Zhang, X.H.1
Chasin, L.A.2
-
23
-
-
23344437521
-
Exon inclusion is dependent on predictable exonic splicing enhancers
-
Zhang, X. H., Kangsamaksin, T., Chao, M. S., Banerjee, J. K., and Chasin, L. A. (2005) Exon inclusion is dependent on predictable exonic splicing enhancers. Mol. Cell. Biol. 25, 7323–7332.
-
(2005)
Mol. Cell. Biol.
, vol.25
, pp. 7323-7332
-
-
Zhang, X.H.1
Kangsamaksin, T.2
Chao, M.S.3
Banerjee, J.K.4
Chasin, L.A.5
-
24
-
-
52649110671
-
Multiple and specific mRNA processing targets for the major human hnRNP proteins
-
Venables, J. P., Koh, C. S., Froehlich, U., Lapointe, E., Couture, S., Inkel, L. et al. (2008) Multiple and specific mRNA processing targets for the major human hnRNP proteins. Mol. Cell. Biol. 28, 6033–6043.
-
(2008)
Mol. Cell. Biol.
, vol.28
, pp. 6033-6043
-
-
Venables, J.P.1
Koh, C.S.2
Froehlich, U.3
Lapointe, E.4
Couture, S.5
Inkel, L.6
-
25
-
-
44349135730
-
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant
-
Goina, E., Skoko, N., and Pagani, F. (2008) Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol. Cell. Biol. 28, 3850–3860.
-
(2008)
Mol. Cell. Biol.
, vol.28
, pp. 3850-3860
-
-
Goina, E.1
Skoko, N.2
Pagani, F.3
|