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ELX-02 Generates Protein via Premature Stop Codon Read-Through without Inducing Native Stop Codon Read-Through Proteins
Crawford, Daniel K., Alroy, Iris, Sharpe, Neal, Goddeeris, Matthew M., Williams, Greg
Published in The Journal of pharmacology and experimental therapeutics (01.08.2020)
Published in The Journal of pharmacology and experimental therapeutics (01.08.2020)
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Journal Article
Gentamicin-induced readthrough of stop codons in duchenne muscular dystrophy
Malik, Vinod, Rodino-Klapac, Louise R., Viollet, Laurence, Wall, Cheryl, King, Wendy, Al-Dahhak, Roula, Lewis, Sarah, Shilling, Christopher J., Kota, Janaiah, Serrano-Munuera, Carmen, Hayes, John, Mahan, John D., Campbell, Katherine J., Banwell, Brenda, Dasouki, Majed, Watts, Victoria, Sivakumar, Kumaraswamy, Bien-Willner, Ricardo, Flanigan, Kevin M., Sahenk, Zarife, Barohn, Richard J., Walker, Christopher M., Mendell, Jerry R.
Published in Annals of neurology (01.06.2010)
Published in Annals of neurology (01.06.2010)
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Journal Article
RNA virus evasion of nonsense-mediated decay
May, Jared P., Yuan, Xuefeng, Sawicki, Erika, Simon, Anne E.
Published in PLoS pathogens (01.11.2018)
Published in PLoS pathogens (01.11.2018)
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Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Journal Article
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
Liccardo, Raffaella, De Rosa, Marina, Rossi, Giovanni Battista, Carlomagno, Nicola, Izzo, Paola, Duraturo, Francesca
Published in International journal of molecular sciences (06.05.2017)
Published in International journal of molecular sciences (06.05.2017)
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Journal Article
Gene- and genome-based analysis of significant codon patterns in yeast, rat and mice genomes with the CUT Codon UTilization tool
Doyle, Francis, Leonardi, Andrea, Endres, Lauren, Tenenbaum, Scott A., Dedon, Peter C., Begley, Thomas J.
Published in Methods (San Diego, Calif.) (01.09.2016)
Published in Methods (San Diego, Calif.) (01.09.2016)
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Journal Article
ACTN3 R577X genotypes associate with Class II and deepbite malocclusions
Zebrick, Brian, Teeramongkolgul, Teesit, Nicot, Romain, Horton, Michael J., Raoul, Gwenael, Ferri, Joel, Vieira, Alexandre R., Sciote, James J.
Published in American journal of orthodontics and dentofacial orthopedics (01.11.2014)
Published in American journal of orthodontics and dentofacial orthopedics (01.11.2014)
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Journal Article
A Stop Codon Polymorphism of Toll-Like Receptor 5 Is Associated with Resistance to Systemic Lupus Erythematosus
Hawn, Thomas R., Wu, Hui, Grossman, Jennifer M., Hahn, Bevra H., Tsao, Betty P., Aderem, Alan, Anderson, Kathryn V.
Published in Proceedings of the National Academy of Sciences - PNAS (26.07.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (26.07.2005)
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Journal Article
The effects of a HTR2B stop codon and testosterone on energy metabolism and beta cell function among antisocial Finnish males
Tikkanen, Roope, Saukkonen, Tero, Fex, Malin, Bennet, Hedvig, Rautiainen, Marja-Riitta, Paunio, Tiina, Koskinen, Mika, Panarsky, Rony, Bevilacqua, Laura, Sjöberg, Rickard L., Tiihonen, Jari, Virkkunen, Matti
Published in Journal of psychiatric research (01.10.2016)
Published in Journal of psychiatric research (01.10.2016)
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Journal Article
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease
Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Bernhard Landwehrmeyer, G., Shoulson, Ira, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Published in Biochemical and biophysical research communications (03.08.2012)
Published in Biochemical and biophysical research communications (03.08.2012)
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Journal Article
Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
Shimkets, Richard A., Warnock, David G., Bositis, Christopher M., Nelson-Williams, Carol, Hansson, Joni H., Schambelan, Morris, Gill, John R., Ulick, Stanley, Milora, Robert V., Findling, James W., Canessa, Cecilia M., Rossier, Bernard C., Lifton, Richard P.
Published in Cell (04.11.1994)
Published in Cell (04.11.1994)
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Journal Article
Knowing when not to stop: selenocysteine incorporation in eukaryotes
Low, Susan C., Berry, Marla J.
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.06.1996)
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.06.1996)
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Journal Article
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
Puisac, Beatriz, Teresa-Rodrigo, María Esperanza, Arnedo, María, Gil-Rodríguez, María Concepción, Pérez-Cerdá, Celia, Ribes, Antonia, Pié, Ángeles, Bueno, Gloria, Gómez-Puertas, Paulino, Pié, Juan
Published in Molecular genetics and metabolism (01.04.2013)
Published in Molecular genetics and metabolism (01.04.2013)
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Journal Article