Materias dentro de su búsqueda.
Mostrando 301 - 320 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.20s Limitar resultados
  1. 301
    “…Here we present evidence for hyperphosphorylation as a mechanism allowing UPF1, the central factor in nonsense-mediated decay (NMD), to increasingly attract downstream machinery with time of residence on target mRNAs. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hyperphosphorylation amplifies UPF1 activity to resolve stalls in nonsense-mediated mRNA decay
  2. 302
    “…Our data indicated that WS patients of the first family harbored two deletion mutations (V415del and F247fs) located in exon 8 and exon 7 respectively, with a compound heterozygous pattern of inheritance; while in the second family, we identified a novel nonsense mutation (W185X) located in exon 5 in the N-terminal cytoplasmic domain with a homozygous pattern of inheritance. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
  3. 303
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
  4. 304
    “…The affected horses were homozygous for ST14:c.388G>T, a nonsense variant that truncates >80% of the open reading frame of the ST14 gene (p.Glu130*). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome
  5. 305
    “…In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes
  6. 306
    “…Nonsense mutations leading to premature stop codons are common occurring in approximately 12% of all human genetic diseases. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia
  7. 307
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation
  8. 308
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Nonsense-mediated mRNA decay factor Upf2 exists in both the nucleoplasm and the cytoplasm
  9. 309
    “…Because many cases of FTD result from GRN nonsense mutations, an animal model for this type of mutation is highly desirable for understanding pathogenesis and testing therapies. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay
  10. 310
    “…Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy
  11. 311
    “…All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
  12. 312
    “…Faulty mRNAs with a premature stop codon (PTC) are recognized and degraded by nonsense-mediated mRNA decay (NMD). Recognition of a nonsense mRNA depends on translation and on the presence of NMD-enhancing or the absence of NMD-inhibiting factors in the 3′-untranslated region. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    New insights into the interplay between the translation machinery and nonsense-mediated mRNA decay factors
  13. 313
    “…Here we report the first female severe EV case in Bangladesh, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD26 gene.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
  14. 314
    “…RESULTS: A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
  15. 315
    “…We hypothesized that a subset of nonsense and frameshift variants in CFTR allow expression of truncated protein that might respond to FDA-approved CFTR modulators. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
  16. 316
    “…Here, we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy
  17. 317
    por Kim, Yoon Ki, Maquat, Lynne E.
    Publicado 2019
    “…Nonsense-mediated mRNA decay (NMD), which is arguably the best-characterized translation-dependent regulatory pathway in mammals, selectively degrades mRNAs as a means of post-transcriptional gene control. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    UPFront and center in RNA decay: UPF1 in nonsense-mediated mRNA decay and beyond
  18. 318
    “…A novel, homozygous FERMT3 nonsense mutation (c.286C > T, p.Q96(∗)) was found in the proband, and its co-segregation with LAD3 phenotype within the family was consistent with an autosomal recessive inheritance. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
  19. 319
    “…RESULTS: WES identified a novel homozygous nonsense variant in SLURP1, and a novel heterozygous nonsense variant in DSG1, as likely causes of the conditions in each family. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
  20. 320
    “…Premature termination codons (PTCs) can result in the production of truncated proteins or the degradation of mRNAs by nonsense-mediated mRNA decay (NMD). Which of these outcomes occurs can alter the effect of a mutation, with the engagement of NMD depending upon a series of rules. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy
Herramientas de búsqueda: RSS