Results 221 to 230 of about 133,000 (265)

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation. [PDF]

Hum Genet
Hull S, Mero M, Hankey W, Lee K, Sullivan LS, Ayyagari R, Benson MD, Haer-Wigman L, Hufnagel RB, Hussain HMJ, Kämpjärvi K, Sieving PA, Wang M, Wang G, Zeitz C, Lewis RA, Chen R, Worley KC, ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel.   +18 more
europepmc   +1 more source

Rescuing TP53 from nonsense: novel triazoles for translational readthrough via optimized drug design. [PDF]

Sci Rep
Ricci D, Menditto M, Culletta G, Tutone M, Rizzo C, Pace A, Lentini L, Pibiri I.   +7 more
europepmc   +1 more source

How stop codon pseudouridylation induces nonsense suppression

Computational and Theoretical Chemistry, 2021
Abstract Nonsense mutation can be an inherited disorder or caused by genetic mutation under certain conditions such as stress or exposure. Nonsense suppression, can have a broad potential as a therapeutic approach to nonsense mutation. Pseudouridine is proposed to result in nonsense suppression if induced in one of the three nonsense codons, Amber ...
Hadieh Monajemi, Sharifuddin M. Zain
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Unassigned or Nonsense Codons in Micrococcus luteus

Journal of Molecular Biology, 1993
We previously reported that in Micrococcus luteus, a Gram-positive eubacterium with high genomic G + C content, certain codons ending with A did not appear in coding frames, including termination sites, and tRNAs that translate these codons were not detected. These facts suggest that at least some of them are unassigned (nonsense) codons, i.e.
A, Kano, T, Ohama, R, Abe, S, Osawa
openaire   +2 more sources

Nonsense codons and polarity in the tryptophan operon

Journal of Molecular Biology, 1966
Abstract Amber and ochre mutants and mutants with cross-reacting material for all five genes of the tryptophan operon have been isolated and characterized. Co-ordinate enzyme formation was examined under repression conditions with a repressordeficient stock of each mutant.
C, Yanofsky, J, Ito
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Effects of surrounding sequence on the suppression of nonsense codons

Journal of Molecular Biology, 1983
Using a lacI-Z fusion system, we have determined the efficiency of suppression of nonsense codons in the I gene of Escherichia coli by assaying beta-galactosidase activity. We examined the efficiency of four amber suppressors acting on 42 different amber (UAG) codons at known positions in the I gene, and the efficiency of a UAG suppressor at 14 ...
MILLER J. H, ALBERTINI, ALESSANDRA
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Identification of nonsense codons in yeast

Journal of Molecular Biology, 1969
Abstract Two nonsense codons have been found in Saccharomyces cerevisiae . The codons differ by a single base and only one contains guanine. Accepting the universality of the genetic code, one can deduce that these are amber and ochre codons since there exist suppressors capable of acting upon either class of nonsense alleles.
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The BRCA2 polymorphic stop codon: stuff or nonsense?

Journal of Medical Genetics, 2015
Background Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. Methods We have noticed multiple co-occurrences of ...
Higgs, J E, Harkness, E F; id_orcid 0000-0001-6625-7739, Bowers, N L, Howard, E, Wallace, A J, Lalloo, F, Newman, W G; id_orcid 0000-0002-6382-4678, Evans, D G; id_orcid 0000-0002-8482-5784   +7 more
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Codon context effects on nonsense suppression in human cells

Biochemical Society Transactions, 1993
Carter, P. W., Hartkus, J. M. and Calvo, J. M. (1986) Proc.Natl.Acad.Sci. U.S.A.83,8127-8131 Gabain, A. v., Helasco, J. G.. Schottel, J. I,., Chang, A. C. Y. and Cohen. S. N. (1983) Proc. Natl. Acad. Sci. [J.S.A. 80, 653-657 Petersen, C. (1987) MGG Mol. Gen. Genet. 209, 179187 Spaniard. K. A., Chen, K., Walker, J. K. and van Lhin, J.
R, Martin, M K, Phillips-Jones, F J, Watson, L S, Hill   +3 more
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The association of nonsense codons with exon skipping

Mutation Research/Reviews in Mutation Research, 1998
Some genes that contain premature nonsense codons express alternatively-spliced mRNA that has skipped the exon containing the nonsense codon. This paradoxical association of translation signals (nonsense codons) and RNA splicing has inspired numerous explanations. The first is based on the fact that premature nonsense codons often reduce mRNA abundance.
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