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Mostrando 481 - 500 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.36s Limitar resultados
  1. 481
    “…We identified a novel, nonsense mutation in one allele of ERCC2 (c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). …”
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    A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D
  2. 482
    “…Nonsense suppression therapy restored PAX6 protein to about 65%–70% of unaffected family controls. …”
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    Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia
  3. 483
    “…A search for private variants revealed a nonsense variant in HPS3, c.2420G>A or p.(Trp807*). …”
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    Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3
  4. 484
    “…An adolescent family member who had normal echocardiographic measurements was found to carry the same disease-causing mutation. LESSONS: A novel nonsense TNNT2 mutation was identified as the HCM-causing mutation in this Chinese pedigree. …”
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    A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
  5. 485
    “…Moreover, by examining the molecular basis for the short circadian period of upf-1(prd-6) mutants, we uncovered a strong influence of the Nonsense-Mediated Decay pathway on CKI levels. The finding that circadian period defects in two classically derived Neurospora clock mutants each arise from disruption of ck-1a regulation is consistent with circadian period being exquisitely sensitive to levels of casein kinase I.…”
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    PRD-2 directly regulates casein kinase I and counteracts nonsense-mediated decay in the Neurospora circadian clock
  6. 486
    “…While CF rat models have contributed significantly to our understanding of CF disease pathogenesis, there are currently no rat models available for studying CF nonsense mutations. Here we created and characterized the first homozygous CF rat model that bears the CFTR G542X nonsense mutation in the endogenous locus using CRISPR/Cas9 gene editing. …”
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    A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay
  7. 487
    “…We identified a novel nonsense variant c.385C>T; p.(R129*) in MICU1 gene by whole exome sequencing (WES) and segregation analysis. …”
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    Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
  8. 488
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    A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle
  9. 489
    “…(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).…”
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    A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
  10. 490
    por Liu, Wei, Guo, Ruru, Hao, Huijie, Ji, Jian
    Publicado 2021
    “…RESULTS: A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. …”
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    Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
  11. 491
    “…Nonsense-mediated mRNA decay (NMD) is a highly conserved cellular surveillance mechanism, commonly studied for its role in mRNA quality control because of its capacity of degrading mutated mRNAs that would produce truncated proteins. …”
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    Deciphering the nonsense-mediated mRNA decay pathway to identify cancer cell vulnerabilities for effective cancer therapy
  12. 492
    “…Nonsense-mediated mRNA decay (NMD) degrades transcripts with premature stop codons. …”
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    Molecular profiling of individual FDA-approved clinical drugs identifies modulators of nonsense-mediated mRNA decay
  13. 493
    “…CONCLUSION: Genetic testing revealed a novel epsilon-sarcoglycan (SGCE) gene nonsense mutation c.821C > A; p.Ser274* that confirmed our clinical diagnosis. …”
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    A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
  14. 494
    “…An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. …”
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    Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder
  15. 495
    “…Surprisingly, novel nonsense variants of the ATP8B1 gene (c.2989G>A and c.1547T>A) in heterozygosis were found, which were identified in each of her parents. …”
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    Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene
  16. 496
    “…RESULTS: We identified a nonsense mutation (c.1564C>T; p.Q522*) in membrane metalloendopeptidase (MME) gene as the cause of the disease condition. …”
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    A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease
  17. 497
    “…An excess of missense and/or nonsense mutations in a gene is an indicator of its cancer relevance. …”
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    Identification of lung cancer drivers by comparison of the observed and the expected numbers of missense and nonsense mutations in individual human genes
  18. 498
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    Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
  19. 499
    “…We considered both the Ti/Tv ratio, and nonsense mutation in pretermination codons, to improve estimates of synonymous (S) and non-synonymous (NS) sites. …”
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    Incorporation of transition to transversion ratio and nonsense mutations, improves the estimation of the number of synonymous and non-synonymous sites in codons
  20. 500
    “…Using whole genome sequencing and mapping to the CanFam4 (Canis lupus familiaris reference assembly 4), a nonsense variant in the EHBP1L1 gene was identified in a homozygous form in the Labrador Retriever littermates. …”
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    An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
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