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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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Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family
Palmirotta, Raffaele, Lovero, Domenica, Stucci, Luigia, Silvestris, Erica, Quaresmini, Davide, Cardascia, Angela, Silvestris, Franco
Published in International journal of molecular sciences (18.01.2018)
Published in International journal of molecular sciences (18.01.2018)
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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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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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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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Stop codon mutations in the flavin-containing monooxygenase 3 ( FMO3) gene responsible for trimethylaminuria in a Japanese population
Yamazaki, Hiroshi, Fujita, Haruka, Gunji, Takaaki, Zhang, Jun, Kamataki, Tetsuya, Cashman, John R., Shimizu, Makiko
Published in Molecular genetics and metabolism (2007)
Published in Molecular genetics and metabolism (2007)
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Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria
Shimizu, Makiko, Hirose, Nagisa, Kato, Mao, Sango, Haruna, Uenuma, Yumi, Makiguchi, Miaki, Hishinuma, Eiji, Saito, Sakae, Hiratsuka, Masahiro, Yamazaki, Hiroshi
Published in Drug metabolism and pharmacokinetics (01.10.2022)
Published in Drug metabolism and pharmacokinetics (01.10.2022)
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Importin β1 mediates nuclear import of the factors associated with nonsense-mediated RNA decay
Hu, Jianran, Li, Ping, Shi, Baozhong, Tie, Jun
Published in Biochemical and biophysical research communications (26.02.2021)
Published in Biochemical and biophysical research communications (26.02.2021)
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Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity
Considine, R V, Considine, E L, Williams, C J, Nyce, M R, Magosin, S A, Bauer, T L, Rosato, E L, Colberg, J, Caro, J F
Published in The Journal of clinical investigation (01.06.1995)
Published in The Journal of clinical investigation (01.06.1995)
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Translation regulation of mammalian selenoproteins
Vindry, Caroline, Ohlmann, Théophile, Chavatte, Laurent
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
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Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene
Marchitelli, Cinzia, Savarese, Maria Carmela, Crisà, Alessandra, Nardone, Alessandro, Marsan, Paolo Ajmone, Valentini, Alessio
Published in Mammalian genome (01.06.2003)
Published in Mammalian genome (01.06.2003)
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Hepatitis B virus genotypes, core promoter variants, and precore stop codon variants in patients infected chronically in North-Eastern Italy
Dal Molin, Gianna, Poli, Albino, Crocè, Lory S., D'Agaro, Pierlanfranco, Biagi, Claudia, Comar, Manola, Tiribelli, Claudio, Campello, Cesare
Published in Journal of medical virology (01.06.2006)
Published in Journal of medical virology (01.06.2006)
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Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy
Finkel, Richard S., Flanigan, Kevin M., Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H. Lee, Reha, Allen, Northcutt, Valerie J., Elfring, Gary, Barth, Jay, Peltz, Stuart W.
Published in PloS one (11.12.2013)
Published in PloS one (11.12.2013)
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Molecular mechanism of selenoprotein P synthesis
Shetty, Sumangala, Copeland, Paul R.
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
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Comparison of ATP sulfurylase 2 from selenium hyperaccumulator Stanleya pinnata and non-accumulator Stanleya elata reveals differential intracellular localization and enzyme activity levels
Jiang, Ying, Schiavon, Michela, Lima, Leonardo W., Tripti, Jones, Rachel R., El Mehdawi, Ali F., Royer, Suzanne, Zeng, Zhaohai, Hu, Yuegao, Pilon-Smits, Elizabeth A.H., Pilon, Marinus
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
Published in Biochimica et biophysica acta. General subjects (01.11.2018)
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Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
Beyltjens, Tessi, Boudin, Eveline, Revencu, Nicole, Boeckx, Nele, Bertrand, Miriam, Schütz, Leon, Haack, Tobias B, Weber, Axel, Biliouri, Eleni, Vinkšel, Mateja, Zagožen, Anja, Peterlin, Borut, Pai, Shashidhar, Telegrafi, Aida, Henderson, Lindsay B, Ells, Courtney, Turner, Lesley, Wuyts, Wim, Van Hul, Wim, Hendrickx, Gretl, Mortier, Geert R
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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