Results 11 to 20 of about 159,772 (339)
U2AF1 mutations alter splice site recognition in hematological malignancies [PDF]
Genome Research, 2013 Whole-exome sequencing studies have identified common mutations affecting genes encoding components of the RNA splicing machinery in hematological malignancies. Here, we sought to determine how mutations affecting the 3′ splice site recognition factor U2AF1 alter its normal role in RNA splicing.Janine O. Ilagan, Aravind Ramakrishnan, Brian Hayes, Michele E. Murphy, Ahmad S. Zebari, Philip Bradley, Robert K. Bradley +6 moreopenalex +4 more sourcesSystematic 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., Anderson, Matthew L., 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, Beuschlein, Felix, Bryce, Alan H., Ho, Thai, Roberts, Lewis, Ajani, Jaffer A., Lazar, Alexander J., Hersey, Peter, 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, Cebulla, Colleen M., 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, Dos Santos, Jose Sebastião, Catto, James, Creaney, Jenette, Fong, Kwun M., Yang, Ian, Rathmell, W. Kimryn, Kovatich, Albert J., Rubin, Mark A., Aredes, Natália D., Mariamidze, Armaz, Eyras, Eduardo, Chen, Ken +284 more +13 more sourcesMutational 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 S, Hummel, R D, Gillespie, J, Swindleopenaire +2 more sourcesAltered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress +58 morecore +12 more sourcesNovel POLG Splice Site Mutation and Optic Atrophy [PDF]
Archives of Neurology, 2011 To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them.Clinical examination and neurophysiological, radiological, morphological, and molecular analyses.Tertiary care neuromuscular clinic and molecular genetics laboratory.A 65-year-old man (patient 1) with ...Margherita, Milone, Jing, Wang, Teerin, Liewluck, Li-Chieh, Chen, Jacqueline A, Leavitt, Lee-Jun, Wong +5 moreopenaire +2 more sources
