Results 211 to 220 of about 69,317 (259)

A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications. [PDF]

BMC Pulm Med
Franco G, Bertola F, Aloisi F, Promi S, Zanini U, Faverio P, Bentivegna A, Borie R, Crestani B, Cazzaniga G, Luppi F.   +10 more
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The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis. [PDF]

J Cancer Res Clin Oncol
Jelsig AM, Boelman MB, Birkedal U, Hübertz J, Al-Zehawi L, Lautrup C, Karstensen JG, van Overeem Hansen T.   +7 more
europepmc   +1 more source

Mechanisms of fosfomycin resistance observed in clinical isolates of <i>Escherichia coli</i> from Canada: CANWARD 2007-2022. [PDF]

JAC Antimicrob Resist
Mataseje LF, Lysak C, Lerminiaux N, Baxter M, Karlowsky JA, Zhanel GG.   +5 more
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Mechanistic insights into coordinated var transcriptional switching in malaria parasites. [PDF]

EMBO J
Visone JE, Florini F, Hadjimichael E, Patel V, Deitsch KW.   +4 more
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Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough. [PDF]

Cells
Miao KL, Huynh R, Woodley D, Chen M.
europepmc   +1 more source

An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in "Blonde d'Aquitaine" calves. [PDF]

BMC Vet Res
Floriot S, Fritz S, Herry V, Beauvallet C, Boussaha M, Egidy G, Duchesne A, Vilotte M, Cadiergues MC, Boichard D, Schelcher F, Vilotte JL.   +11 more
europepmc   +1 more source

Stop codon context modulates NMD efficiency through translation termination kinetics. [PDF]

Cell Genom
Longman D, Monaghan L, Cáceres JF.
europepmc   +1 more source

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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
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