Items where Subject is "exon splicing"

A

Anczukow, O., Akerman, M., Clery, A., Wu, J., Shen, C., Shirole, N. H., Raimer, A., Sun, S., Jensen, M. A., Hua, Y., Allain, F. H., Krainer, A. R. (October 2015) SRSF1-Regulated Alternative Splicing in Breast Cancer. Mol Cell, 60 (1). pp. 105-17. ISSN 1097-4164 (Electronic)1097-2765 (Linking)

Andersen, L., Ballester, R., Marchuk, D., Saulino, A., Wigler, M. H., Collins, F. (October 1991) Alternative Splicing in the Proposed Catalytic Domain of the Type-1 Neurofibromatosis Gene. American Journal of Human Genetics, 49 (4). p. 21. ISSN 0002-9297

B

Balvay, L., Pret, A. M., Libri, D., Helfman, D. M., Fiszman, M. Y. (August 1994) Splicing of the Alternative Exons of the Chicken, Rat, and Xenopus Beta-Tropomyosin Transcripts Requires Class-Specific Elements. Journal of Biological Chemistry, 269 (31). pp. 19675-19678. ISSN 0021-9258

Bilodeau, P. S., Domsic, J. K., Mayeda, A., Krainer, A. R., Stoltzfus, C. M. (September 2001) RNA splicing at human immunodeficiency virus type 1 3 ' splice site A2 is regulated by binding of hnRNP A/B proteins to an exonic splicing silencer element. Journal of Virology, 75 (18). pp. 8487-8497. ISSN 0022-538X

Brown, Anna-Leigh, Wilkins, Oscar G, Keuss, Matthew J, Hill, Sarah E, Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora CY, Masino, Laura, Qi, Yue A, Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, NYGC ALS Consortium, Newcombe, Jia, Gustavsson, Emil K, Seddighi, Sahba, Reyes, Joel F, Coon, Steven L, Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth MC, Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E, Fratta, Pietro (February 2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603 (7899). pp. 131-137. ISSN 0028-0836

C

Cartegni, L., Chew, S. L., Krainer, A. R. (April 2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nature Reviews Genetics, 3 (4). pp. 285-298. ISSN 1471-0056

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (January 2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet, 78 (1). pp. 63-77. ISSN 0002-9297 (Print)

Cartegni, L., Krainer, A. R. (April 2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature Genetics, 30 (4). pp. 377-384. ISSN 1061-4036

Cartegni, L., Wang, J. H., Zhu, Z. W., Zhang, M. Q., Krainer, A. R. (July 2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Research, 31 (13). pp. 3568-3571. ISSN 0305-1048

Chew, S. L., Liu, H. X., Mayeda, A., Krainer, A. R. (September 1999) Evidence for the function of an exonic splicing enhancer after the first catalytic step of pre-mRNA splicing. Proceedings of the National Academy of Sciences of the United States of America, 96 (19). pp. 10655-10660. ISSN 0027-8424

D

Dirksen, W. P., Li, X. L., Mayeda, A., Krainer, A. R., Rottman, F. M. (September 2000) Mapping the SF2/ASF binding sites in the bovine growth hormone exonic splicing enhancer. Journal of Biological Chemistry, 275 (37). pp. 29170-29177. ISSN 0021-9258

Domsic, J. K., Wang, Y. B., Mayeda, A., Krainer, A. R., Stoltzfus, C. M. (December 2003) Human immunodeficiency virus type 1 hnRNP A/B-Dep endent exonic splicing silencer ESSV antagonizes binding of U2AF65 to viral polypyrimidine tracts. Molecular and Cellular Biology, 23 (23). pp. 8762-8772. ISSN 0270-7306

F

Fridman, J. S., Hernando, E., Hemann, M. T., de Stanchina, E., Cordon-Cardo, C., Lowe, S. W. (September 2003) Tumor promotion by Mdm2 splice variants unable to bind p53. Cancer Research, 63 (18). pp. 5703-5706. ISSN 0008-5472

G

Grellscheid, S., Dalgliesh, C., Storbeck, M., Best, A., Liu, Y., Jakubik, M., Mende, Y., Ehrmann, I., Curk, T., Rossbach, K., Bourgeois, C. F., Stévenin, J., Grellscheid, D., Jackson, M. S., Wirth, B., Elliott, D. J. (2011) Identification of evolutionarily conserved exons as regulated targets for the splicing activator Tra2β in development. PLoS Genetics, 7 (12). ISSN 15537390 (ISSN)

H

Hastings, M. L., Berniac, J., Liu, Y. H., Abato, P., Jodelka, F. M., Barthel, L., Kumar, S., Dudley, C., Nelson, M., Larson, K., Edmonds, J., Bowser, T., Draper, M., Higgins, P., Krainer, A. R. (November 2009) Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy. Science Translational Medicine, 1 (5). ISSN 1946-6234

Hou, V. C., Gee, S. L., Wu, M., Turck, C. W., Koury, M., Krainer, A. R., Mayeda, A., Conboy, J. G. (November 2001) Characterization of a second hnRNP A/B-dependent exonic splicing silencer in protein 4.1R exon 16. Blood, 98 (11). 436A-436A. ISSN 0006-4971

L

Liu, H. X., Chew, S. L., Cartegni, L., Zhang, M. Q., Krainer, A. R. (February 2000) Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Molecular and Cellular Biology, 20 (3). pp. 1063-1071. ISSN 0270-7306

Liu, H. X., Zhang, M., Krainer, A. R. (July 1998) Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes & Development, 12 (13). pp. 1998-2012. ISSN 0890-9369

M

Marasco, Luciano E, Dujardin, Gwendal, Sousa-Luís, Rui, Liu, Ying Hsiu, Stigliano, Jose N, Nomakuchi, Tomoki, Proudfoot, Nick J, Krainer, Adrian R, Kornblihtt, Alberto R (June 2022) Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell, 185 (12). 2057-2070.e15. ISSN 0092-8674

N

Nielsen, K. B., Sorensen, S., Cartegni, L., Corydon, T. J., Doktor, T. K., Schroeder, L. D., Reinert, L. S., Elpeleg, O., Krainer, A. R., Gregersen, N., Kjems, J., Andresen, B. S. (March 2007) 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. American Journal of Human Genetics, 80 (3). pp. 416-432. ISSN 0002-9297

P

Pang, Grace SY, Wang, Jingbo, Wang, Zihua, Goh, Cynthia, Lee, Caroline GL (July 2009) The G allele of SNP E1/A118G at the µ-opioid receptor gene locus shows genomic evidence of recent positive selection. Pharmacogenomics, 10 (7). pp. 1101-1109. ISSN 1462-2416

Pittenger, M. F., Kistler, A., Helfman, D. M. (October 1995) Alternatively spliced exons of the beta tropomyosin gene exhibit different affinities for F-actin and effects with nonmuscle caldesmon. J Cell Sci, 108 ( . pp. 3253-65. ISSN 0021-9533 (Print)

Prior, T. W., Krainer, A. R., Hua, Y., Swoboda, K. J., Snyder, P. C., Bridgeman, S. J., Burghes, A. H. M., Kissel, J. T. (September 2009) A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene. The American Journal of Human Genetics, 85 (3). pp. 408-413.

R

Rigo, F., Chun, S. J., Norris, D. A., Hung, G., Lee, S., Matson, J., Fey, R. A., Gaus, H., Hua, Y., Grundy, J. S., Krainer, A. R., Henry, S. P., Bennett, C. F. (July 2014) Pharmacology of a central nervous system delivered 2′-O-methoxyethyl- modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates. Journal of Pharmacology and Experimental Therapeutics, 350 (1). pp. 46-55. ISSN 15210103

S

Sahashi, K., Ling, K. K., Hua, Y., Wilkinson, J. E., Nomakuchi, T., Rigo, F., Hung, G., Xu, D., Jiang, Y. P., Lin, R. Z., Ko, C. P., Bennett, C. F., Krainer, A. R. (September 2013) Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Molecular Medicine, 5 (10). pp. 1586-1601. ISSN 17574676 (ISSN)

Smith, P. J., Spurrell, E. L., Coakley, J., Hinds, C. J., Ross, R. J. M., Krainer, A. R., Chew, S. L. (January 2002) An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor. Endocrinology, 143 (1). pp. 146-154. ISSN 0013-7227

Smith, P. J., Zhang, C., Wang, J., Chew, S. L., Zhang, M. Q., Krainer, A. R. (August 2006) An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet, 15 (16). pp. 2490-508. ISSN 0964-6906 (Print)

Stamm, S., Zhang, M. Q., Marr, T. G., Helfman, D. M. (May 1994) A sequence compilation and comparison of exons that are alternatively spliced in neurons. Nucleic Acids Res, 22 (9). pp. 1515-26. ISSN 0305-1048 (Print)

Stamm, S., Zhu, J., Nakai, K., Stoilov, P., Stoss, O., Zhang, M. Q. (December 2000) An alternative-exon database and its statistical analysis. DNA and Cell Biology, 19 (12). pp. 739-756. ISSN 1044-5498

Sun, Q., Mayeda, A., Hampson, R. K., Krainer, A. R., Rottman, F. M. (December 1993) General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer. Genes & Development, 7 (12b). pp. 2598-608. ISSN 0890-9369 (Print)0890-9369

T

Thorsen, K., Mansilla, F., Schepeler, T., Oster, B., Rasmussen, M. H., Dyrskjot, L., Karni, R., Akerman, M., Krainer, A. R., Laurberg, S., Andersen, C. L., Orntoft, T. F. (January 2011) Alternative splicing of SLC39A14 in colorectal cancer is regulated by the Wnt pathway. Molecular and Cellular Proteomics, 10 (1).

Thorsen, K., Sorensen, K. D., Brems-Eskildsen, A. S., Modin, C., Gaustadnes, M., Hein, A. M. K., Kruhoffer, M., Laurberg, S., Borre, M., Wang, K., Brunak, S., Krainer, A. R., Torring, N., Dyrskjot, L., Andersen, C. L., Orntoft, T. F. (July 2008) Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Molecular & Cellular Proteomics, 7 (7). pp. 1214-1224. ISSN 1535-9476

Tsukahara, T., Casciato, C., Helfman, D. M. (June 1994) Alternative splicing of beta-tropomyosin pre-mRNA: multiple cis-elements can contribute to the use of the 5'- and 3'-splice sites of the nonmuscle/smooth muscle exon 6. Nucleic Acids Res, 22 (12). pp. 2318-25. ISSN 0305-1048 (Print)

W

Wang, Z. X., Chatterjee, D., Jeon, H. Y., Akerman, M., Vander Heiden, M. G., Cantley, L. C., Krainer, A. R. (2012) Exon-centric regulation of pyruvate kinase M alternative splicing via mutually exclusive exons. Journal of Molecular Cell Biology, 4 (2). pp. 79-87.

Wang, Zhenxun (June 2012) The mechanism and manipulation of PK-M alternative splicing. PhD thesis, Cold Spring Harbor Laboratory.

Wu, J., Akerman, M., Sun, S., McCombie, W. R., Krainer, A. R., Zhang, M. Q. (November 2011) SpliceTrap: a method to quantify alternative splicing under single cellular conditions. Bioinformatics, 27 (21). 3010-3016 . ISSN 1367-4803

Wu, Q., Krainer, A. R. (December 1998) Purine-rich enhancers function in the AT-AC pre-mRNA splicing pathway and do so independently of intact U1 snRNP. RNA, 4 (12). pp. 1664-1673. ISSN 1355-8382

Z

Zatkova, A., Messiaen, L., Vandenbroucke, I., Wieser, R., Fonatsch, C., Krainer, A. R., Wimmer, K. (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Human Mutation, 24 (6). pp. 491-501. ISSN 1059-7794

Zhang, C., Li, W. H., Krainer, A. R., Zhang, M. Q. (April 2008) RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci U S A, 105 (15). 5797-5802 .

Zhu, J., Mayeda, A., Krainer, A. R. (December 2001) Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Molecular Cell, 8 (6). pp. 1351-1361. ISSN 1097-2765