Results 41 to 50 of about 154,659 (331)

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

npj Precision Oncology, 2020
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with ...
Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam   +52 more
doaj   +1 more source

Activity-regulated RNA editing in select neuronal subfields in hippocampus [PDF]

, 2012
RNA editing by adensosine deaminases is a widespread mechanism to alter genetic information in metazoa. In addition to modifications in non-coding regions, editing contributes to diversification of protein function, in analogy to alternative splicing ...
Ales Balik, Altschul, Andrew C. Penn, Aruscavage, Bass, Birney, Bratt, Brorson, Coleman, Coleman, Daniel, Darty, Dawson, de la Mata, Feldmeyer, Feng, Fisahn, Gahwiler, Gainey, Gallo, Ge, Goodman, Greger, Greger, Greger, Gurevich, Hamada, Hideyama, Hideyama, Higuchi, Higuchi, Hoopengardner, Hundley, Ingo H. Greger, Jepson, Katoh, Kent, Lee, Lein, Li, Liu, Lomeli, Maas, Marcucci, Palladino, Paul, Peng, Peng, Penn, Penn, Penn, Pozo, Rosenthal, Rueter, Ryman, Sanjana, Schoft, Seeburg, Seeburg, Sommer, Sommer, Stefl, Stefl, Tariq, Toth, Traynelis, Turrigiano, Turrigiano, Valente, Venkatesh, Wang, Witter, Xie, Zsofia Nemoda   +73 more
core   +1 more source

Incorporating evolutionary information and functional domains for identifying RNA splicing factors in humans. [PDF]

PLoS ONE, 2011
Regulation of pre-mRNA splicing is achieved through the interaction of RNA sequence elements and a variety of RNA-splicing related proteins (splicing factors).
Justin Bo-Kai Hsu, Neil Arvin Bretaña, Tzong-Yi Lee, Hsien-Da Huang   +3 more
doaj   +1 more source

Gene expression and splicing alterations analyzed by high throughput RNA sequencing of chronic lymphocytic leukemia specimens. [PDF]

, 2015
BackgroundTo determine differentially expressed and spliced RNA transcripts in chronic lymphocytic leukemia specimens a high throughput RNA-sequencing (HTS RNA-seq) analysis was performed.MethodsTen CLL specimens and five normal peripheral blood CD19+ B ...
A Ameur, A Choudhury, A Hidalgo, A Rosenwald, AS Kamiguti, C Haslinger, C Soo, C Trapnell, C Trapnell, CJ David, DC Gilby, E Moon, E Moravcikova, F Colotta, F Talab, FC Kelleher, Gwen Jordaan, H Dohner, H Jiang, J Eswaran, J Vilpo, JC Marioni, JJ Dongen van, JP Venables, K Inada, K Zen, L Chen, L Wang, L Yang, LQ Zhang, M Crespo, M Rehli, M Shinohara, M Sultan, Matteo Pelegrini, ML Hermiston, MW Pfaffl, N Chiorazzi, NA Twine, O Bermudez, P Guglielmi, P Kapranov, PG Ferreira, Phillipp Nham, Q Huang, RA Higgins, RI Fernando, RK Gandhirajan, RN Damle, Ryan T. Phan, S Anders, S Courtois, S Decker, S Falt, S Ibrahim, S Liu, S Ma, S Ren, S Shen, Sanjai Sharma, SM Russell, SP Shah, SR Gunn, T Ormsby, TJ Hamblin, U Klein, V Quesada, Wei Liao, XS Puente, Y Pawitan, Y Pekarsky, Y Yu, Z Wang   +72 more
core   +1 more source

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

The Application of Clinical Genetics, 2021
Erica Aristizábal,1 Lorena Diaz-Ordóñez,1 Estephania Candelo,1,2 Harry Pachajoa1,2 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia ...
Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H   +3 more
doaj  

AKT3-mediated IWS1 phosphorylation promotes the proliferation of EGFR-mutant lung adenocarcinomas through cell cycle-regulated U2AF2 RNA splicing

Nature Communications, 2021
IWS1 regulates multiple steps in RNA metabolism, including RNA elongation and alternative RNA splicing. Here the authors show that AKT3 phosphorylates IWS1, which alters U2AF2 RNA splicing and promotes growth of lung adenocarcinomas via a Sororin/ERK ...
Georgios I. Laliotis, Evangelia Chavdoula, Maria D. Paraskevopoulou, Abdul Kaba, Alessandro La Ferlita, Satishkumar Singh, Vollter Anastas, Keith A. Nair, Arturo Orlacchio, Vasiliki Taraslia, Ioannis Vlachos, Marina Capece, Artemis Hatzigeorgiou, Dario Palmieri, Christos Tsatsanis, Salvatore Alaimo, Lalit Sehgal, David P. Carbone, Vincenzo Coppola, Philip N. Tsichlis   +19 more
doaj   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons [PDF]

, 2014
Alternative splicing—the production of multiple messenger RNA isoforms from a single gene—is regulated in part by RNA binding proteins. While the RBPs transformer2 alpha (Tra2α) and Tra2β have both been implicated in the regulation of alternative ...
Austin, Caroline A., Best, Andrew, Chabot, Benoit, Cheong Lee, Ka, Cowell, Ian G., Curk, Tomaz, Dalgliesh, Caroline, Danilenko, Marina, Elliott, David J., Hong, Elaine, Hussain, Rafiq, James, Katherine, Keavney, Bernard, Kheirolahi-Kouhestani, Mahsa, Klinck, Roscoe, Santibanez Koref, Mauro, Tyson-Capper, Alison, Venables, Julian P., Wipat, Anil, Xu, Yaobo   +19 more
core   +2 more sources

Akt-ivation of RNA Splicing [PDF]

Molecular Cell, 2014
Cells must tightly control alternative splicing of RNA to maintain homeostasis; in this issue of Molecular Cell, Sanidas et al. (2014) provide new insights into the regulation of RNA splicing by Akt isoforms through phosphorylation of histone modification machinery.
John Blenis, Gina Lee
openaire   +3 more sources

Latent rank change detection for analysis of splice-junction microarrays with nonlinear effects [PDF]

Annals of Applied Statistics 2011, Vol. 5, No. 1, 364-380, 2011
Alternative splicing of gene transcripts greatly expands the functional capacity of the genome, and certain splice isoforms may indicate specific disease states such as cancer. Splice junction microarrays interrogate thousands of splice junctions, but data analysis is difficult and error prone because of the increased complexity compared to ...
arxiv   +1 more source