Mostrando 2,961 - 2,980 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.14s Limitar resultados
  1. 2961
    “…Objective: The developmental maturation of forward and backward digit spans—indices of working memory—in boys with nonsense (nm) Duchenne muscular dystrophy (DMD) (nmDMD) was assessed using prospective, longitudinal data. …”
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  2. 2962
  3. 2963
  4. 2964
    “…HRM scanning revealed 17 polymorphisms: eight in the exons (including five missense variants and one point-nonsense mutation) and nine in the intron sequences (eight single nucleotide polymorphisms (SNPs) and one deletion variant). …”
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  5. 2965
    “…Whole-exome sequencing identified this primary ciliary dyskinesia only (Pcdo) allele to be a nonsense mutation (c.5236A>T) in the Spag17 coding sequence creating a premature stop codon (K1746*). …”
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  6. 2966
    “…RESULTS: The deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. …”
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  7. 2967
    “…A total of three of these were nonsense mutations (novel Gln1072X and recurrent Trp97X and Arg921X), and one was a frameshift mutation (novel Val357Aspfs*15). …”
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  8. 2968
    “…Using a matching-to-sample task, artificial stimulus categories were established using physically dissimilar nonsense shapes. A member of one category (conditioned stimulus; CS1) was then associated with an aversive outcome in an Acquisition context, unless an avoidance response was made. …”
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  9. 2969
  10. 2970
    “…Rbs1 also binds to Upf1 protein, a key component in nonsense-mediated mRNA decay (NMD) and levels of RPB10 mRNA were increased in a upf1Δ strain. …”
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  11. 2971
    “…RESULTS: Three different point mutations (two nonsense, one frameshift) and one whole SHOX gene deletion were detected in 15 patients from four different families. …”
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  12. 2972
  13. 2973
    “…RESULTS: WES revealed a previously unreported homozygous nonsense variant (NM_017755.5: c.1004T>A, p.Leu335*) in exon 9 of NSUN2, which was consistent with the clinical phenotype of the patients and co‐segregated with the disease in their family. …”
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  14. 2974
    “…About 10% of cases are due to heterozygous non‐PARM missense, nonsense or frameshift mutations. METHODS: We describe a three‐generation Maltese‐Caucasian family with a variable respiratory/Hirschsprung phenotype, characterized by chronic constipation, three siblings with Hirschsprung disease necessitating surgery, chronic hypoxia, and alveolar hypoventilation requiring non‐invasive ventilation. …”
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  15. 2975
    “…(Trp778*) was reported as a nonsense variant causing prelingual ARNSHL. CONCLUSION: These findings can, in turn, endorse how TMC1 and CDH23 screening is critical to detecting HL in Iranian patients. …”
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  16. 2976
    por Wu, Jian, Bisaro, David M.
    Publicado 2020
    “…To minimize this concern, lethal mutations, including nonsense and non-synonymous mutations, have been used to determine mutation rates for several viruses and viroids, including Potato spindle tuber viroid (PSTVd). …”
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  17. 2977
    “…Alternative splicing generates multiple transcript and protein isoforms from a single gene and controls transcript intracellular localization and stability by coupling to mRNA export and nonsense-mediated mRNA decay (NMD). RNA interference (RNAi) is a potent mechanism to modulate gene expression. …”
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  18. 2978
    “…RESULTS: Three frameshift variants, two nonsense variants, one missense variant, and one splicing variant of TCOF1 were identified in the seven TCS probands. …”
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  19. 2979
    “…We report here that ana3m19 is a suppressor of lethality induced by the overexpression of Sol narae (Sona), a metalloprotease in a disintegrin and metalloprotease with thrombospondin motif (ADAMTS) family. ana3m19 has a nonsense mutation that truncates the highly conserved carboxyl terminal region containing multiple Armadillo repeats. …”
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  20. 2980
    “…In the two siblings, we identified a known frameshift (c.1601_1602delAT) and a novel nonsense mutation (c.1036C>T) in the GP1BA gene that abrogated the production of GP1bα. …”
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