Results 11 to 20 of about 1,070 (210)
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.Reyka G. Jayasinghe, Song Cao, Qingsong Gao, Michael C. Wendl, Nam Sy Vo, Sheila M. Reynolds, Yanyan Zhao, Héctor Climente-González, Shengjie Chai, Fang Wang, Rajees Varghese, Mo Huang, Wen-Wei Liang, Matthew A. Wyczalkowski, Sohini Sengupta, Zhi Li, Samuel H. Payne, David Fenyö, Jeffrey H. Miner, Matthew J. Walter, Benjamin Vincent, Eduardo Eyras, Ken Chen, Ilya Shmulevich, Feng Chen, Li Ding, Samantha J. Caesar-Johnson, John A. Demchok, Ina Felau, Melpomeni Kasapi, Martin L. Ferguson, Carolyn M. Hutter, Heidi J. Sofia, Roy Tarnuzzer, Zhining Wang, Liming Yang, Jean C. Zenklusen, Jiashan (Julia) Zhang, Sudha Chudamani, Jia Liu, Laxmi Lolla, Rashi Naresh, Todd Pihl, Qiang Sun, Yunhu Wan, Ye Wu, Juok Cho, Timothy DeFreitas, Scott Frazer, Nils Gehlenborg, Gad Getz, David I. Heiman, Jaegil Kim, Michael S. Lawrence, Pei Lin, Sam Meier, Michael S. Noble, Gordon Saksena, Doug Voet, Hailei Zhang, Brady Bernard, Nyasha Chambwe, Varsha Dhankani, Theo Knijnenburg, Roger Kramer, Kalle Leinonen, Yuexin Liu, Michael Miller, Sheila Reynolds, Ilya Shmulevich, Vesteinn Thorsson, Wei Zhang, Rehan Akbani, Bradley M. Broom, Apurva M. Hegde, Zhenlin Ju, Rupa S. Kanchi, Anil Korkut, Jun Li, Han Liang, Shiyun Ling, Wenbin Liu, Yiling Lu, Gordon B. Mills, Kwok-Shing Ng, Arvind Rao, Michael Ryan, Jing Wang, John N. Weinstein, Jiexin Zhang, Adam Abeshouse, Joshua Armenia, Debyani Chakravarty, Walid K. Chatila, Ino de Bruijn, Jianjiong Gao, Benjamin E. Gross, Zachary J. Heins, Ritika Kundra, Konnor La, Marc Ladanyi, Augustin Luna, Moriah G. Nissan, Angelica Ochoa, Sarah M. Phillips, Ed Reznik, Francisco Sanchez-Vega, Chris Sander, Nikolaus Schultz, Robert Sheridan, S. Onur Sumer, Yichao Sun, Barry S. Taylor, Jioajiao Wang, Hongxin Zhang, Pavana Anur, Myron Peto, Paul Spellman, Christopher Benz, Joshua M. Stuart, Christopher K. Wong, Christina Yau, D. Neil Hayes, Joel S. Parker, Matthew D. Wilkerson, Adrian Ally, Miruna Balasundaram, Reanne Bowlby, Denise Brooks, Rebecca Carlsen, Eric Chuah, Noreen Dhalla, Robert Holt, Steven J.M. Jones, Katayoon Kasaian, Darlene Lee, Yussanne Ma, Marco A. Marra, Michael Mayo, Richard A. Moore, Andrew J. Mungall, Karen Mungall, A. Gordon Robertson, Sara Sadeghi, Jacqueline E. Schein, Payal Sipahimalani, Angela Tam, Nina Thiessen, Kane Tse, Tina Wong, Ashton C. Berger, Rameen Beroukhim, Andrew D. Cherniack, Carrie Cibulskis, Stacey B. Gabriel, Galen F. Gao, Gavin Ha, Matthew Meyerson, Steven E. Schumacher, Juliann Shih, Melanie H. Kucherlapati, Raju S. Kucherlapati, Stephen Baylin, Leslie Cope, Ludmila Danilova, Moiz S. Bootwalla, Phillip H. Lai, Dennis T. Maglinte, David J. Van Den Berg, Daniel J. Weisenberger, J. Todd Auman, Saianand Balu, Tom Bodenheimer, Cheng Fan, Katherine A. Hoadley, Alan P. Hoyle, Stuart R. Jefferys, Corbin D. Jones, Shaowu Meng, Piotr A. Mieczkowski, Lisle E. Mose, Amy H. Perou, Charles M. Perou, Jeffrey Roach, Yan Shi, Janae V. Simons, Tara Skelly, Matthew G. Soloway, Donghui Tan, Umadevi Veluvolu, Huihui Fan, Toshinori Hinoue, Peter W. Laird, Hui Shen, Wanding Zhou, Michelle Bellair, Kyle Chang, Kyle Covington, Chad J. Creighton, Huyen Dinh, HarshaVardhan Doddapaneni, Eve Shinbrot, Matthew Bailey, Michael D. McLellan, Jay Bowen, Christopher Hovens, Andre L. Carvalho, Ana C. de Carvalho, Rui M. Reis, Henrique C.S. Silveira, Matthew L. Anderson, Galiya Setdikova, Alexey Shabunin, Mikhail Tavobilov, Colleen Feltmate, Jill S. Barnholtz-Sloan, Quinn T. Ostrom, Agostino De Rose, Felice Giuliante, Hai Hu, Louis Lacombe, Alain Bergeron, Eric Lipp, Jeffrey Marks, Shannon McCall, Angeles Secord, Fadlo Khuri, Leendert Looijenga, Chiara Calatozzolo, Stefania Cuzzubbo, Francesco DiMeco, Gaetano Finocchiaro, Luca Mattei, Alessandro Perin, Bianca Pollo, Hani Gabra, Felix Beuschlein, Alan H. Bryce, Thai Ho, Lewis Roberts, Jaffer A. Ajani, Alexander J. Lazar, Peter Hersey, Valerie Jakrot, Hojabr Kakavand, Georgina Long, Graham Mann, Robyn Saw, Richard Scolyer, Kerwin Shannon, James Wilmott, Marc Moncrieff, George Thomas, Nicholas Hayward, Francesco Facciolo, Mirella Marino, Kivanc Birsoy, Nathan A. Pennell, Domenico Alvaro, Maria Consiglia Bragazzi, Vincenzo Cardinale, Guido Carpino, Eugenio Gaudio, Fedor Moiseenko, Renumathy Dhanasekaran, Karl-Friedrich Becker, Mohamed H. Abdel-Rahman, Colleen M. Cebulla, Karan Rai, Martin Fassnacht, Sylvia L. Asa, Thorsten Schlomm, Andreas von Deimling, Aaron Bossler, Deqin Ma, Mohammed Milhem, Clement Adebamowo, Sally N. Adebamowo, Alex Boussioutas, Thomas Giordano, Kathleen Moore, Jose Sebastião Dos Santos, James Catto, Elizabeth Swisher, Jenette Creaney, Kwun M. Fong, Ian Yang, W. Kimryn Rathmell, Albert J. Kovatich, Ramaswamy Govindan, Mark A. Rubin, Natália D. Aredes, Armaz Mariamidze +292 more +13 more sourcesA 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.Mark, Harland, Claire F, Taylor, Philip A, Chambers, Kairen, Kukalizch, Juliette A, Randerson-Moor, Nelleke A, Gruis, Femke A, de Snoo, Jeanet A C, ter Huurne, Alisa M, Goldstein, Margaret A, Tucker, D Timothy, Bishop, Julia A Newton, Bishop +11 moreopenaire +2 more sourcesA 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.M, Williamson, H, Cragg, J, Grant, K, Kretz, J, O'Brien, P J, Willems, E, Young, B, Winchester +7 moreopenaire +2 more sourcesA 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.Svenson, Ingrid K., Ashley-Koch, Allison E., Pericak-Vance, Margaret A., Marchuk, Douglas A. +3 moreopenaire +2 more sourcesIdentification of a novel splice‐site mutation in the CYP1A2 gene [PDF]
British Journal of Clinical Pharmacology, 2003 Aims To identify the molecular basis for a low CYP1A2 metabolic status, as determined by a caffeine phenotyping test, in a 71‐year‐old, nonsmoking, Caucasian woman who presented with very high clozapine concentrations despite being administered a standard dose of the drug.Methods The nucleotide sequence of the 7 exons, exon‐intron boundaries and 5 ...Delphine, Allorge, Dany, Chevalier, Jean-Marc, Lo-Guidice, Christelle, Cauffiez, Françoise, Suard, Pierre, Baumann, Chin B, Eap, Franck, Broly +7 moreopenaire +2 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 sourcesSplice 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 moreopenaire +5 more sourcesInformation analysis of human splice site mutations
Human Mutation, 1998 Splice site nucleotide substitutions can be analyzed by comparing the individual information contents (Ri, bits) of the normal and variant splice junction sequences [Rogan and Schneider, 1995]. In the present study, we related splicing abnormalities to changes in Ri values of 111 previously reported splice site substitutions in 41 different genes ...Rogan, Peter K., Faux, Brian M., Schneider, Thomas D. +2 moreopenaire +3 more sources
