Found: 18
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Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2014, v. 50, n. 4, p. 805, doi. 10.1165/rcmb.2013-0282OC
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- Publication type:
- Article
Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model.
- Published in:
- Journal of Molecular Medicine, 2006, v. 84, n. 7, p. 573, doi. 10.1007/s00109-006-0045-5
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- Publication type:
- Article
Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene.
- Published in:
- Journal of Molecular Medicine, 2002, v. 80, n. 9, p. 595, doi. 10.1007/s00109-002-0363-1
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- Publication type:
- Article
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system.
- Published in:
- Journal of Molecular Medicine, 2002, v. 80, n. 6, p. 367, doi. 10.1007/s00109-001-0317-z
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- Publication type:
- Article
Finding sense in the context: Ribosomal profiling has shed new light on how ribosomes can ignore stop codons in messenger RNA.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.55960
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- Publication type:
- Article
Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells.
- Published in:
- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0295009
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- Publication type:
- Article
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 30, doi. 10.1002/humu.24290
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- Publication type:
- Article
Heterozygosity for the F508del Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Anion Channel Attenuates Influenza Severity.
- Published in:
- Journal of Infectious Diseases, 2013, v. 208, n. 5, p. 780, doi. 10.1093/infdis/jit251
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- Publication type:
- Article
Hexose phosphorylation and the putative calcium channel component Mid1p are required for the hexose-induced transient elevation of cytosolic calcium response in Saccharomyces cerevisiae.
- Published in:
- Molecular Microbiology, 2002, v. 44, n. 5, p. 1299, doi. 10.1046/j.1365-2958.2002.02956.x
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- Publication type:
- Article
Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 16, p. 3116, doi. 10.1093/hmg/ddx196
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- Publication type:
- Article
Characterization of Defects in Ion Transport and Tissue Development in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Knockout Rats.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091253
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- Publication type:
- Article
Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060478
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- Publication type:
- Article
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α -l -iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 291, doi. 10.1093/hmg/10.3.291
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- Publication type:
- Article
Extended stop codon context predicts nonsense codon readthrough efficiency in human cells.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46703-z
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- Publication type:
- Article
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.
- Published in:
- Wiley Interdisciplinary Reviews: RNA, 2011, v. 2, n. 6, p. 837, doi. 10.1002/wrna.95
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- Publication type:
- Article
Aminoglycosides as Potential Pharmacogenetic Agents in the Treatment of Hailey–Hailey Disease.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4521, doi. 10.3390/ijms24054521
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- Publication type:
- Article