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Mostrando 241 - 260 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.37s Limitar resultados
  1. 241
    “…Nonsense-mediated mRNA decay (NMD) typifies an mRNA surveillance pathway. …”
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    Nonsense-mediated mRNA decay factor UPF1 promotes aggresome formation
  2. 242
    “…Since approximately 28% of FA, 24% of SCN, 21% of DBA, 20% of SDS, and 17% of DC patients harbor nonsense mutations in the respective IBMFS-related genes, we discuss the use of the nonsense suppression therapy in these diseases. …”
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    Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes
  3. 243
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    Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs
  4. 244
    “…A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. …”
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    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
  5. 245
    “…CONCLUSIONS: This study found the first nonsense TNNI3K mutation associated with CCD in a Chinese family. …”
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    Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease
  6. 246
    “…METHODS: Clinical-genetic and biomarker study of a first family with early- and late-onset AD associated with a nonsense ADAM10 mutation (p.Tyr167*). CSF analysis included AD core biomarkers, as well as Western blot of ADAM10 species and sAPPα and sAPPβ peptides. …”
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    α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease
  7. 247
    “…We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.…”
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    A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke
  8. 248
    “…Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients have at least one nonsense allele, which may be amenable to readthrough therapy. …”
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    Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
  9. 249
    “…In human cells, BlaS inhibits nonsense-mediated mRNA decay and, at subinhibitory concentrations, modulates translation dynamics at premature termination codons leading to enhanced protein production.…”
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    Blasticidin S inhibits mammalian translation and enhances production of protein encoded by nonsense mRNA
  10. 250
    “…We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio‐exome sequencing. …”
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    A novel nonsense variant in MED12 associated with malformations in a female fetus
  11. 251
    “…However, viable strains with nonsense mutations in both the SUP35 and SUP45 genes were previously obtained in several groups. …”
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    Gene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes
  12. 252
    “…With whole exome sequencing, we identified a novel INS nonsense mutation resulting in an early termination at the 46th residue of PPI (PPI-R46X) in two unrelated patients with early-onset diabetes. …”
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    A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum
  13. 253
    “…The biological functions of intron retention (IR) and nonsense-mediated mRNA decay (NMD) in filamentous fungi is lack of study, let alone their roles in cellulase biosynthesis. …”
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    Intron retention coupled with nonsense-mediated decay is involved in cellulase biosynthesis in cellulolytic fungi
  14. 254
    “…Nonsense mutations or premature termination codons (PTCs) comprise ∼11% of all genetic lesions, which result in over 7,000 distinct genetic diseases. …”
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    Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs
  15. 255
    “…Low CFTR mRNA expression due to nonsense-mediated mRNA decay (NMD) is a major hurdle in developing a therapy for cystic fibrosis (CF) caused by the W1282X mutation in the CFTR gene. …”
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    Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy
  16. 256
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    2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases
  17. 257
    por Zhang, Xinyi, Kebaara, Bessie W.
    Publicado 2022
    “…The highly conserved Nonsense-mediated mRNA decay (NMD) pathway is a translation dependent mRNA degradation pathway. …”
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    Nonsense-mediated mRNA decay and metal ion homeostasis and detoxification in Saccharomyces cerevisiae
  18. 258
    “…TP53 nonsense mutations in cancer produce truncated inactive p53 protein. …”
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    Translational readthrough of nonsense mutant TP53 by mRNA incorporation of 5-Fluorouridine
  19. 259
    “…This current case report describes a 1-month-old male infant that had a nonsense mutation in the KAT6A gene. Neither of his parents had the mutation. …”
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    The clinical spectrum of a nonsense mutation in KAT6A: a case report
  20. 260
    “…Nonsense mutations are involved in multiple peripheral neuropathies. …”
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    Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene
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