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  1. 1961
    “…Here, we identified a frameshift variant (c.201_202insAC, p.Tyr68Thrfs∗17) and two nonsense variants (c.1897C>T, p.Gln633∗; c.2005C>T, p.Gln669∗) in KCTD19 (potassium channel tetramerization domain containing 19) from two unrelated infertile Chinese men and a consanguineous Pakistani family with three infertile brothers. …”
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    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
  2. 1962
    “…This variant is predicted to have a nonsense effect, p.(Cys51Ter), resulting in a premature stop codon. …”
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    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma
  3. 1963
    “…In conclusion, our study identifies a novel hERG mutation leading to impaired Kv11.1 function due to trafficking and nonsense-mediated RNA decay defects. These findings shed light on the mechanisms underlying LQT2 and offer potential therapeutic avenues.…”
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    A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome
  4. 1964
    “…We offer the view that different meanings of the concept of causal factors in obesity research are regularly being conflated, leading to confusion, unclear thinking and sometimes nonsense. We emphasize the idea of different kinds of studies for evaluating various aspects of causal effects and discuss experimental methods, assumptions and evaluations. …”
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    Causal models and causal modelling in obesity: foundations, methods and evidence
  5. 1965
    “…However, pathways related to translation fidelity, such as nonsense‐mediated decay and eukaryotic translation elongation, correlated with longevity across mammals. …”
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    Large‐scale across species transcriptomic analysis identifies genetic selection signatures associated with longevity in mammals
  6. 1966
    “…UPF-1-UPF-2-UPF-3 complex-orchestrated nonsense-mediated mRNA decay (NMD) is a well-characterized eukaryotic cellular surveillance mechanism that not only degrades aberrant transcripts to protect the integrity of the transcriptome but also eliminates normal transcripts to facilitate appropriate cellular responses to physiological and environmental changes. …”
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    Sensing of H(2)O(2)-induced oxidative stress by the UPF factor complex is crucial for activation of catalase-3 expression in Neurospora
  7. 1967
    “…Stop-gain mutations (SGMs) (i.e., nonsense mutations) were strongly enriched in SBS signatures of tobacco smoking, APOBEC cytidine deaminases, and reactive oxygen species. …”
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    Mutational processes of tobacco smoking and APOBEC activity generate protein-truncating mutations in cancer genomes
  8. 1968
    “…RESULTS: In total, 34 different mutations were found in 36 patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 frameshifts and 17 nonsense mutations. There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar. …”
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    Mutation spectrum of retinoblastoma patients in Vietnam
  9. 1969
    “…Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants’ associated transcripts.…”
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    Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
  10. 1970
    “…We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy was admitted because of short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead, and inverted triangular face. …”
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    A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
  11. 1971
    “…Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. …”
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    DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
  12. 1972
    “…The ank (progressive ankylosis) mutant mouse, which has a nonsense mutation in exon 12 of the inorganic pyrophosphate regulator gene (ank), exhibits aberrant joint ankylosis similar to human ankylosing spondylitis (AS). …”
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    ANKH variants associated with ankylosing spondylitis: gender differences
  13. 1973
    “…Truncated proteins are usually not expressed since nonsense mRNAs are most often degraded. However, high Kv1.1 mRNA levels in mceph/mceph brain indicated that it escaped this control mechanism. …”
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    A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction
  14. 1974
    “…RESULTS: The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor. …”
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    Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
  15. 1975
    “…To probe further an effect involving RNA degradation pathways, the inhibition by RNA interference of Rent1, a factor essential for nonsense-mediated decay and Exosc10, a specific nuclear component of the exosome, was analysed and shown to similarly impair Xist upregulation and XCI. …”
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    Nuclear mRNA Degradation Pathway(s) Are Implicated in Xist Regulation and X Chromosome Inactivation
  16. 1976
    “…Genomic sequence analysis of Poli led to the serendipitous discovery that 129-derived strains of mice have a nonsense codon mutation in exon 2 that abrogates production of polι. …”
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    129-derived Strains of Mice Are Deficient in DNA Polymerase ι and Have Normal Immunoglobulin Hypermutation
  17. 1977
    por Harrison, Paul, Yu, Zhan
    Publicado 2007
    “…We analysed the distribution of initial frame disruptions in dmRNAs with respect to positions of: (i) protein domains, (ii) alternatively-spliced exons, and (iii) regions susceptible to nonsense-mediated decay (NMD). We find significant avoidance of protein-domain disruption (indicating a selection pressure for this), and highly significant overrepresentation of disruptions in alternatively-spliced exons, and 'non-NMD' regions. …”
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    Frame disruptions in human mRNA transcripts, and their relationship with splicing and protein structures
  18. 1978
    “…Of 10 mutants of MDA5, two exhibited loss of function. A nonsense mutation, E627*, resulted in deletion of the C-terminal region and double-stranded RNA (dsRNA) binding activity. …”
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    Identification of Loss of Function Mutations in Human Genes Encoding RIG-I and MDA5: IMPLICATIONS FOR RESISTANCE TO TYPE I DIABETES
  19. 1979
    “…They mostly affect existing splice sites, but synonymous, non-synonymous or nonsense mutations can also create or disrupt splice sites or auxiliary cis-splicing sequences. …”
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    Human Splicing Finder: an online bioinformatics tool to predict splicing signals
  20. 1980
    “…The mutations included 10 single base substitutions (3 missense and 7 nonsense), 10 splice site mutations, and 1 single base deletion. …”
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    The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
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