Items where Subject is "splice site"

A

Andresen, B. S., Nielsen, K. B., Madsen, P. P., Corydon, T. J., Kjems, J., Krainer, A. R., Elpeleg, O. N., Schroeder, L. D., Gregersen, N. (October 2002) Simple mutations in the coding region of three acyl-CoA dehydrogenase genes may lead to skipping of the constitutive exon due to disruption of potential splice enhancer sequences or mRNA secondary structures. American Journal of Human Genetics, 71 (4). p. 196. 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

Buratti, E., Chivers, M., Královičová, J., Romano, M., Baralle, M., Krainer, Adrian R., Vořechovský, I. (June 2007) Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res, 35 (13). pp. 4250-4263. ISSN 1362-4962 (Electronic)

C

Caceres, J. F., Krainer, A. R., Kornblihtt, A. R. (August 2007) The pathology of pre-mRNA splicing: a meeting in the Italian Alps - Workshop on pre-mRNA processing and disease. Embo Reports, 8 (8). pp. 730-734. ISSN 1469-221X

Chen, Wei-Chia, Zhou, Juannan, Sheltzer, Jason M, Kinney, Justin B, McCandlish, David M (October 2021) Field-theoretic density estimation for biological sequence space with applications to 5' splice site diversity and aneuploidy in cancer. Proceedings of the National Academy of Sciences of USA, 118 (40). ISSN 1091-6490

Coutinho, G., Xie, J. Y., Du, L. T., Brusco, A., Krainer, A. R., Gatti, R. A. (2005) Functional significance of deep intronic mutation in the ATM gene and evidence for an alternative Exon 28a. Human Mutation, 25 (2). pp. 118-124. ISSN 1059-7794

D

Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., Gingeras, T. R. (January 2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics, 29 (1). pp. 15-21. ISSN 1367-4803

E

Einson, Jonah, Glinos, Dafni, Boerwinkle, Eric, Castaldi, Peter, Darbar, Dawood, de Andrade, Mariza, Ellinor, Patrick, Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, Hersh, Craig P, Johnsen, Jill, Kaplan, Robert, Konkle, Barbara A, Kooperberg, Charles, Nassir, Rami, Loos, Ruth JF, Meyers, Deborah A, Mitchell, Braxton D, Psaty, Bruce, Vasan, Ramachandran S, Rich, Stephen S, Rienstra, Michael, Rotter, Jerome I, Saferali, Aabida, Shoemaker, Moore Benjamin, Silverman, Edwin, Smith, Albert Vernon, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Mohammadi, Pejman, Castel, Stephane E, Iossifov, Ivan, Lappalainen, Tuuli (August 2023) Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics, 224 (4). iyad115. ISSN 0016-6731

Eperon, I. C., Makarova, O. V., Mayeda, A., Munroe, S. H., Caceres, J. F., Hayward, D. G., Krainer, A. R. (November 2000) Selection of alternative 5 ' splice sites: Role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1. Molecular and Cellular Biology, 20 (22). pp. 8303-8318. ISSN 0270-7306

F

Fu, X. D., Mayeda, A., Maniatis, T., Krainer, A. R. (December 1992) General splicing factors SF2 and SC35 have equivalent activities in vitro, and both affect alternative 5' and 3' splice site selection. Proceedings of the National Academy of Sciences of the United States of America, 89 (23). pp. 11224-8. ISSN 0027-8424 (Print)0027-8424

G

Gao, Yuan, Lin, Kuan-Ting, Jiang, Tao, Yang, Yang, Rahman, Mohammad A, Gong, Shuaishuai, Bai, Jialin, Wang, Li, Sun, Junjie, Sheng, Lei, Krainer, Adrian R, Hua, Yimin (January 2022) Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA. Nucleic Acids Research. ISSN 0305-1048

Guatelli, J. C., Gingeras, T. R., Richman, D. D. (1990) Alternative splice acceptor utilization during human immunodeficiency virus type 1 infection of cultured cells. Journal of Virology, 64 (9). pp. 4093-4098. ISSN 0022538X (ISSN)

H

Horowitz, D. S., Krainer, A. R. (March 1994) Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing. Trends in Genetics, 10 (3). pp. 100-106. ISSN 0168-9525

K

Koizumi, J., Okamoto, Y., Onogi, H., Mayeda, A., Krainer, A. R., Hagiwara, M. (April 1999) The subcellular localization of SF2/ASF is regulated by direct interaction with SR protein kinases (SRPKs). Journal of Biological Chemistry, 274 (16). pp. 11125-11131. ISSN 0021-9258

Krainer, A. R., Mayeda, A., Helfman, D., Conway, G. C., Kozak, D. (1991) Biochemistry of Mammalian Nuclear Pre-Messenger Rna Splicing and Splice Site Selection. Journal of Cellular Biochemistry, 47 (Suppl ). p. 45.

M

Mayeda, A., Krainer, A. R. (1999) Preparation of HeLa cell nuclear and cytosolic S100 extracts for in vitro splicing. Methods in Molecular Biology, 118. pp. 309-14. ISSN 1064-3745 (Print)1064-3745

Mayeda, A., Munroe, S. H., Caceres, J. F., Krainer, A. R. (November 1994) Function of conserved domains of hnRNP A1 and other hnRNP A/B proteins. EMBO Journal, 13 (22). pp. 5483-5495. ISSN 0261-4189

P

Park, S., Brugiolo, M., Akerman, M., Das, S., Urbanski, L., Geier, A., Kesarwani, A. K., Fan, M., Leclair, N., Lin, K. T., Hu, L., Hua, I., George, J., Muthuswamy, S. K., Krainer, A. R., Anczukow, O. (November 2019) Differential Functions of Splicing Factors in Mammary Transformation and Breast Cancer Metastasis. Cell Rep, 29 (9). 2672-2688.e7. ISSN 2211-1247 (Public Dataset)

Pollard, A. J., Krainer, A. R., Robson, S. C., Europe-Finner, G. N. (May 2002) Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3'-splice Site. Journal of Biological Chemistry, 277 (18). pp. 15241-51. ISSN 0021-9258 (Print)0021-9258

R

Rahman, M. A., Krainer, A. R., Abdel-Wahab, O. (January 2020) SnapShot: Splicing Alterations in Cancer. Cell, 180 (1). 208-208.e1. ISSN 0092-8674

Regulski, M., Lu, Z., Kendall, J., Donoghue, M. T., Reinders, J., Llaca, V., Deschamps, S., Smith, A., Levy, D., McCombie, W. R., Tingey, S., Rafalski, A., Hicks, J., Ware, D., Martienssen, R. (June 2013) The maize methylome influences mRNA splice sites and reveals widespread paramutation-like switches guided by small RNA. Genome Research, 23 (10). pp. 1651-1662. ISSN 10889051 (ISSN)

Roca, X., Krainer, A. R., Eperon, I. C. (January 2013) Pick one, but be quick: 5′ splice sites and the problems of too many choices. Genes and Development, 27 (2). pp. 129-144. ISSN 08909369 (ISSN)

Roca, X., Olson, A. J., Rao, A. R., Enerly, E., Kristensen, V. N., Borresen-Dale, A. L., Andresen, B. S., Krainer, A. R., Sachidanandam, R. (January 2008) Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res, 18 (1). pp. 77-87.

Roca, X., Sachidanandam, R., Krainer, A. R. (November 2003) Intrinsic differences between authentic and cryptic 5 ' splice sites. Nucleic Acids Research, 31 (21). pp. 6321-6333. ISSN 0305-1048

S

Sheth, N., Roca, X., Hastings, M. L., Roeder, T., Krainer, A. R., Sachidanandam, R. (2006) Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Res, 34 (14). pp. 3955-3967. ISSN 1362-4962 (Electronic)

T

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

Wong, M. S., Kinney, J. B., Krainer, A. R. (August 2018) Quantitative Activity Profile and Context Dependence of All Human 5' Splice Sites. Mol Cell, 71 (6). 1012-1026.e3. ISSN 1097-2765

X

Xu, R. M., Jokhan, L., Cheng, X., Mayeda, A., Krainer, A. R. (April 1997) Crystal structure of human UP1, the domain of hnRNP A1 that contains two RNA-recognition motifs. Structure, 5 (4). pp. 559-70. ISSN 0969-2126 (Print)0969-2126