Materias dentro de su búsqueda.
Mostrando 1,101 - 1,120 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.48s Limitar resultados
  1. 1101
    “…Nonsense-mediated mRNA decay (NMD) is a system that controls the quality of mRNA transcripts in eukaryotes by degradation of aberrant transcripts in a pioneer round of translation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Direct RNA sequencing dataset of SMG1 KO mutant Physcomitrella (Physcomitrium patens)
  2. 1102
    “…RESULTS: WES analysis revealed a homozygous nonsense c.405C>A (p.Y135*) mutation in CPE. Validation and segregation analysis confirmed the homozygous mutation in the index case and his affected siblings. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
  3. 1103
    “…This finding suggests that late learners of sign language may rely on visual processing more than early learners, when processing both linguistic and nonsense sign input – regardless of hearing status. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The impact of early language exposure on the neural system supporting language in deaf and hearing adults
  4. 1104
    “…We further applied ScNapBar to pools of cells with an active or a silenced nonsense-mediated RNA decay pathway. Our Nanopore read assignment distinguishes the respective cell populations and reveals characteristic nonsense-mediated mRNA decay events depending on cell status.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Single-cell transcriptome sequencing on the Nanopore platform with ScNapBar
  5. 1105
    “…Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
  6. 1106
    “…Sequential genetic testing identified a nonsense variant c.148C>T, p. Arg50(⁎) in SGMS2 previously reported in other families. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
  7. 1107
    “…More than 70% of DMD gene defects result from genomic rearrangements principally leading to large deletions, while the remaining are small nucleotide variants, including nonsense and missense variants, small insertions/deletions or splicing alterations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients
  8. 1108
    “…We identified a heterozygous nonsense variant, c.523A>T (p.K175*), in TNNI1 in the family. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis
  9. 1109
    “…CONCLUSIONS: A rare heterozygous nonsense WT1 mutant is associated with non‐syndromic POI and Wilms’ tumor. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient
  10. 1110
    “…RESULTS: Among 27 collected samples, TP53 exon 6 mutation, namely missense mutation and nonsense mutation, was observed in two samples (7.4%). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    TP53 and EGFR Mutational Status in Thymoma: A Genetic Sequencing Study
  11. 1111
    “…A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature
  12. 1112
    “…The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of children aged ≥ 2 yrs, that seems effective in slowing the disease progression. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
  13. 1113
    “…Results: Whole-exome sequencing revealed a novel nonsense variant (c.529A>T; p.Lys177*; NM_005994.4) in TBX2. 3D-TBX2 protein modeling revealed a substantial reduction of the mutated protein, which might lead to a loss of function (LOF) or nonsense-mediated decay (NMD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
  14. 1114
    por Panek, William, Wentworth, Tylor
    Publicado 2010
    “…Using a task-focused approach and clear, no-nonsense instructions, this book delivers all the information you'll need to deploy and manage Windows 7 efficiently and securely. …”
    Enlace del recurso
    Mastering Microsoft Windows 7 Administration
  15. 1115
    por Hilz, Corey
    Publicado 2011
    “…This no-nonsense, highly affordable, and inspiring guide walks photographers new to Photoshop through the end to end Photoshop workflow. …”
    Enlace del recurso
    Focus On Adobe Photoshop: Focus on the Fundamentals
  16. 1116
    “…Essential reading for experienced developers who are determined to master the latest release of C++ Although C++ is often the language of choice from game programming to major commercial software applications, it is also one of the most difficult to master. With this no-nonsense book, you will learn to conquer the latest release of C++. …”
    Enlace del recurso
    Professional C++
  17. 1117
    por Dorr, Barry
    Publicado 2014
    “…Written in a user-friendly, no-nonsense format, the book reviews practical skills using the latest tools and techniques, and features a companion website with interview practice problems and advanced material for readers wishing to pursue additional skills. …”
    Enlace del recurso
    Ten essential skills for electrical engineers
  18. 1118
    por Ryan, Lawrence M
    Publicado 2001
    “…The underlying molecular defect resulting in the abnormal calcification observed in ank/ank mice has been identified. The responsible nonsense mutation affects the protein product of ank, resulting in diminished production of extracellular inorganic pyrophosphate, an important inhibitor of nucleation and of the growth of apatite crystals. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    The ank gene story
  19. 1119
    por Saveanu, Cosmin, Jacquier, Alain
    Publicado 2016
    “…Establishing a link between the nonsense-mediated decay pathway and a gene associated with programmed cell death could explain why this pathway is essential in most, but not all, eukaryotes.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    How cells kill a "killer" messenger
  20. 1120
    “…We examined processing during the setup and punch line stages for creativity and humor, including typical forms (alternate uses for creativity and incongruity‐resolution humor), atypical forms (aesthetic uses for creativity and nonsense humor), and baseline forms. Our focus was on the mesolimbic pathway during the punch line stage. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Amygdala‐frontoparietal effective connectivity in creativity and humor processing
Herramientas de búsqueda: RSS