Results 241 to 250 of about 640,277 (286)

Comparative transcriptome and mutation analyses of the pancreatic islets of a rat model of obese type 2 diabetes identifies a frequently distributed nonsense mutation in the lipocalin 2 gene. [PDF]

DNA Res
Yokoi N, Adachi N, Hirokoji T, Nakano K, Yoshihara M, Shigenaka S, Urakawa R, Taniguchi Y, Yoshida Y, Yokose S, Suyama M, Okamura T.   +11 more
europepmc   +1 more source

Correction: Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. [PDF]

PLoS Biol
Wittenstein A, Caspi M, Rippin I, Elroy-Stein O, Eldar-Finkelman H, Thoms S, Rosin-Arbesfeld R.   +6 more
europepmc   +1 more source

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Nonsense Mutations in Eukaryotes

Biochemistry (Moscow), 2022
Nonsense mutations are a type of mutations which results in a premature termination codon occurrence. In general, these mutations have been considered to be among the most harmful ones which lead to premature protein translation termination and result in shortened nonfunctional polypeptide. However, there is evidence that not all nonsense mutations are
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Immunodeficiency Associated with a Nonsense Mutation of IKBKB

Journal of Clinical Immunology, 2014
We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was ...
Nielsen, Christian, Jakobsen, Marianne A, Larsen, Martin Jakob, Müller, Amanda C, Hansen, Søren, Lillevang, Søren T, Fisker, Niels, Barington, Torben   +7 more
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A novel nonsense mutation in the human dystrophin gene

Human Mutation, 1993
Several lines of research recently pointed to- ward the identification of minor structural alter- ations and nucleotide substitutions that together are responsible for the 30% of mutations among patients affected with the X-linked Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (Bulman et al., 1991; Clemens et al.,
Saad FA, Vita G, Mora M, Morandi L, Vitiello L, OLIVIERO, Salvatore, Danieli G.A.   +6 more
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A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Journal of Medical Genetics, 2014
Background Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes.
Samer, Khateb, Lina, Zelinger, Liliana, Mizrahi-Meissonnier, Carmen, Ayuso, Robert K, Koenekoop, Uri, Laxer, Menachem, Gross, Eyal, Banin, Dror, Sharon   +8 more
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Isolation and characterization of context mutations affecting the suppressibility of nonsense mutations

Molecular and General Genetics MGG, 1980
Secondary mutations which increase the efficiency of suppression of nonsense mutations in the rIIB cistron of bacteriophage T4 have been isolated. These secondary mutations, called context mutations, map at sites very close to the nonsense codon, possibly on the promotor distal side.
M M, Fluck, R H, Epstein
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Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Human Molecular Genetics, 1993
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1.
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.   +2 more
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Therapeutic approaches for nonsense mutations in CFTR

Journal of Cystic Fibrosis
This manuscript reviews recent developments in suppressing nonsense mutations in the CFTR gene. Nonsense mutations lead to premature termination codons (PTCs)-UAG, UGA, or UAA- that cause the production of truncated, non-functional proteins and result in the degradation of transcripts by the nonsense-mediated decay (NMD) pathway, and in some cases exon
Mairead Kelly-Aubert, Kari Thrasher, Andrei A. Korostelev, John D. Lueck, Isabelle Sermet-Gaudelus   +4 more
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