Results 11 to 20 of about 83,578 (286)

Mutational Analysis of 3′ Splice Site Selection duringtrans-Splicing [PDF]

Journal of Biological Chemistry, 2000
trans-Splicing is essential for mRNA maturation in trypanosomatids. A conserved AG dinucleotide serves as the 3' splice acceptor site, and analysis of native processing sites suggests that selection of this site is determined according to a 5'-3' scanning model. A series of stable gene replacement lines were generated that carried point mutations at or
H. Hummel, R. Dean Gillespie, John Swindle   +2 more
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A novel splice site mutation in a Becker muscular dystrophy patient. [PDF]

Journal of Medical Genetics, 1996
A Becker muscular dystrophy patient was found to have a single base substitution at the 5' end of intron 54. This single base substitution disrupts the invariant GT dinucleotide within the 5' donor splice site and was shown to cause an out of frame deletion of exon 54 during mRNA processing.
C Bartolo, A C Papp, P J Snyder, M S Sedra, Arthur H.M. Burghes, C D Hall, Jerry R. Mendell, Thomas W. Prior   +7 more
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A mutation hotspot at the p14ARF splice site [PDF]

Oncogene, 2005
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare.
Claire Taylor, Mark Harland, Juliette Randerson-Moor, Philip A. Chambers, D. Timothy Bishop, Julia A. Newton Bishop, Kairen Kukalizch, Alisa M. Goldstein, Femke A. de Snoo, Nelleke A. Gruis, Jeanet A.C. ter Huurne, Margaret A. Tucker   +11 more
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A 5' splice site mutation in fucosidosis. [PDF]

Journal of Medical Genetics, 1993
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable.
J Grant, K Kretz, H Cragg, Patrick Willems, B Winchester, Magali Williamson, E Young, J O'Brien   +7 more
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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation [PDF]

Kidney International, 2000
Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder, predominantly affecting the type IV collagen alpha 3/alpha 4/alpha 5 network of the glomerular basement membrane (GBM). AS can be caused by mutations in any of the three genes encoding these type IV collagen chains.
Frank T.L. Van Der Loop, Laurence Heidet, Erika Timmer, B.J.C. van den Bosch, Anu Leinonen, Corinne Antignac, J. Ashley Jefferson, Alexander P. Maxwell, L.A.H. Monnens, Cornelis H. Schröder, Hubert J.M. Smeets   +10 more
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Systematic Analysis of Splice-Site-Creating Mutations in Cancer [PDF]

Cell Reports, 2018
For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations (SCMs) across 8,656 TCGA tumors.
Jayasinghe, Reyka G., Cao, Song, Gao, Qingsong, Wendl, Michael C., Vo, Nam Sy, Reynolds, Sheila M., Zhao, Yanyan, Climente-González, Héctor, Chai, Shengjie, Wang, Fang, Varghese, Rajees, Huang, Mo, Liang, Wen-Wei, Wyczalkowski, Matthew A., Sengupta, Sohini, Li, Zhi, Payne, Samuel H., Fenyö, David, Miner, Jeffrey H., Walter, Matthew J., Caesar-Johnson, Samantha J., Demchok, John A., Felau, Ina, Kasapi, Melpomeni, Ferguson, Martin L., Hutter, Carolyn M., Sofia, Heidi J., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Zenklusen, Jean C., Zhang, Jiashan (Julia), Chudamani, Sudha, Liu, Jia, Lolla, Laxmi, Naresh, Rashi, Pihl, Todd, Sun, Qiang, Wan, Yunhu, Wu, Ye, Cho, Juok, DeFreitas, Timothy, Frazer, Scott, Gehlenborg, Nils, Getz, Gad, Heiman, David I., Kim, Jaegil, Lawrence, Michael S., Lin, Pei, Meier, Sam, Noble, Michael S., Saksena, Gordon, Voet, Doug, Zhang, Hailei, Bernard, Brady, Chambwe, Nyasha, Dhankani, Varsha, Knijnenburg, Theo, Kramer, Roger, Leinonen, Kalle, Liu, Yuexin, Miller, Michael, Reynolds, Sheila, Shmulevich, Ilya, Thorsson, Vesteinn, Zhang, Wei, Akbani, Rehan, Broom, Bradley M., Hegde, Apurva M., Ju, Zhenlin, Kanchi, Rupa S., Korkut, Anil, Li, Jun, Liang, Han, Ling, Shiyun, Liu, Wenbin, Lu, Yiling, Mills, Gordon B., Ng, Kwok-Shing, Rao, Arvind, Ryan, Michael, Wang, Jing, Weinstein, John N., Zhang, Jiexin, Abeshouse, Adam, Armenia, Joshua, Chakravarty, Debyani, Chatila, Walid K., de Bruijn, Ino, Gao, Jianjiong, Gross, Benjamin E., Heins, Zachary J., Kundra, Ritika, La, Konnor, Ladanyi, Marc, Luna, Augustin, Nissan, Moriah G., Ochoa, Angelica, Phillips, Sarah M., Reznik, Ed, Sanchez-Vega, Francisco, Sander, Chris, Schultz, Nikolaus, Sheridan, Robert, Sumer, S. Onur, Sun, Yichao, Taylor, Barry S., Wang, Jioajiao, Zhang, Hongxin, Anur, Pavana, Peto, Myron, Spellman, Paul, Benz, Christopher, Stuart, Joshua M., Wong, Christopher K., Yau, Christina, Hayes, D. Neil, Parker, Joel S., Wilkerson, Matthew D., Ally, Adrian, Balasundaram, Miruna, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Holt, Robert, Jones, Steven J. M., Kasaian, Katayoon, Lee, Darlene, Ma, Yussanne, Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Mungall, Karen, Robertson, A. Gordon, Sadeghi, Sara, Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Thiessen, Nina, Tse, Kane, Wong, Tina, Berger, Ashton C., Beroukhim, Rameen, Cherniack, Andrew D., Cibulskis, Carrie, Gabriel, Stacey B., Gao, Galen F., Ha, Gavin, Meyerson, Matthew, Schumacher, Steven E., Shih, Juliann, Kucherlapati, Melanie H., Kucherlapati, Raju S., Baylin, Stephen, Cope, Leslie, Danilova, Ludmila, Bootwalla, Moiz S., Lai, Phillip H., Maglinte, Dennis T., Van Den Berg, David J., Weisenberger, Daniel J., Auman, J. Todd, Balu, Saianand, Bodenheimer, Tom, Fan, Cheng, Hoadley, Katherine A., Hoyle, Alan P., Jefferys, Stuart R., Jones, Corbin D., Meng, Shaowu, Mieczkowski, Piotr A., Mose, Lisle E., Perou, Amy H., Perou, Charles M., Roach, Jeffrey, Shi, Yan, Simons, Janae V., Skelly, Tara, Soloway, Matthew G., Tan, Donghui, Veluvolu, Umadevi, Fan, Huihui, Hinoue, Toshinori, Laird, Peter W., Shen, Hui, Zhou, Wanding, Bellair, Michelle, Chang, Kyle, Covington, Kyle, Creighton, Chad J., Dinh, Huyen, Doddapaneni, HarshaVardhan, Donehower, Lawrence A., Drummond, Jennifer, Gibbs, Richard A., Glenn, Robert, Hale, Walker, Shinbrot, Eve, Bailey, Matthew, McLellan, Michael D., Bowen, Jay, Hovens, Christopher, Carvalho, Andre L., de Carvalho, Ana C., Reis, Rui M., Silveira, Henrique C. S., Setdikova, Galiya, Shabunin, Alexey, Tavobilov, Mikhail, Feltmate, Colleen, Barnholtz-Sloan, Jill S., De Rose, Agostino, Giuliante, Felice, Hu, Hai, Lacombe, Louis, Bergeron, Alain, Lipp, Eric, McCall, Shannon, Khuri, Fadlo, Looijenga, Leendert, Calatozzolo, Chiara, Cuzzubbo, Stefania, DiMeco, Francesco, Finocchiaro, Gaetano, Mattei, Luca, Perin, Alessandro, Pollo, Bianca, Gabra, Hani, Bryce, Alan H., Ho, Thai, Roberts, Lewis, Ajani, Jaffer A., Lazar, Alexander J., Jakrot, Valerie, Kakavand, Hojabr, Long, Georgina, Mann, Graham, Scolyer, Richard, Shannon, Kerwin, Wilmott, James, Moncrieff, Marc, Thomas, George, Hayward, Nicholas, Facciolo, Francesco, Marino, Mirella, Birsoy, Kivanc, Pennell, Nathan A., Alvaro, Domenico, Bragazzi, Maria Consiglia, Cardinale, Vincenzo, Moiseenko, Fedor, Dhanasekaran, Renumathy, Becker, Karl-Friedrich, Rai, Karan, Fassnacht, Martin, Asa, Sylvia L., Schlomm, Thorsten, von Deimling, Andreas, Bossler, Aaron, Ma, Deqin, Milhem, Mohammed, Adebamowo, Clement, Adebamowo, Sally N., Boussioutas, Alex, Giordano, Thomas, Carlotti, Carlos Gilberto, Catto, James, Creaney, Jenette, Fong, Kwun M., Yang, Ian, Rathmell, W. Kimryn, Kovatich, Albert J., Rubin, Mark A., Mariamidze, Armaz, Eyras, Eduardo, Chen, Ken   +278 more
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Effect of 5′ Splice Site Mutations on Splicing of the Preceding Intron [PDF]

Molecular and Cellular Biology, 1990
Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either ...
Susan M. Berget, M Talerico
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MSH2 splice site mutation and endometrial cancer

International Journal of Gynecological Cancer, 2006
Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs.
Francesca Bianchi, S. Rosati, Laura Belvederesi, Cristian Loretelli, Romina Catalani, Alessandra Mandolesi, R. Bracci, Italo Bearzi, Emilio Porfiri, R. Cellerino   +9 more
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A Second Leaky Splice-Site Mutation in the Spastin Gene [PDF]

The American Journal of Human Genetics, 2001
To the Editor: Mutations in the gene encoding spastin, an ATPase of unknown function, cause the most common form of autosomal dominant hereditary spastic paraplegia (SPG4 [MIM 182601]; Hazan et al. 1999), a neurodegenerative disorder characterized by progressive spasticity of the lower limbs.
Allison E. Ashley-Koch, Ingrid K. Svenson, Margaret A. Pericak-Vance, Douglas A. Marchuk   +3 more
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Splice Site Mutations in the ATP7A Gene

PLoS ONE, 2011
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations.
Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk   +2 more
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