Mostrando 194,461 - 194,480 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.18s Limitar resultados
  1. 194461
  2. 194462
    “…Genome editing is a novel approach which may be used to treat patients with thalassemia; it makes use of targeted nucleases to correct the mutations in specific DNA sequences and modify the sequence to the normal wild-type sequence. …”
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  3. 194463
    “…RESULTS: In total, 42 variants were detected in 27 (58.7%) cases in the FCCTX group, with BRCA1, BRCA2, POLE, POLD1, ATR, and ATM being the most frequently mutated genes. The mean onset age of colorectal cancer (CRC) was significantly older in the FCCTX group than in the LS group (53.57 ± 12.88 years vs. 44.36 ± 11.26 years, t = −9.204, p < 0.001). …”
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  4. 194464
    “…A high-throughput 127 target-gene capture technology and a high-sensitivity circulating single-molecule amplification and resequencing technology (cSMART) assay were used to detect the somatic mutations in the tumor tissues as well as the plasma of NSCLC patients before and after surgery to monitor for minimal residual disease (MRD). …”
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  5. 194465
    “…Further, an in vitro kinase assay demonstrated that Ca(2+) enhanced the phosphorylation of NS2 significantly. Importantly, mutations introduced at the Ca(2+) binding site in the viral genome by reverse genetics failed to allow recovery of viable virus, and the NS2 phosphorylation level and assembly of viral inclusion bodies (VIBs) were reduced. …”
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  6. 194466
  7. 194467
  8. 194468
    “…The prognostic efficacy of the signature remained unaffected regardless of whether BRAF or NRAS was mutated. As expected, the results were verified in the GSE65904 dataset and the TCGA-UVM dataset. …”
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  9. 194469
  10. 194470
  11. 194471
    “…Morphological evaluation of the bone marrow smears and biopsy showed no evidence of MPN. Gene mutations in Breakpoint cluster regions-Abelson murine leukemia viral oncogene homologue 1 (BCR-ABL1), Janus kinase 2 (JAK2), calreticulin (CALR), myeloproliferative leukemia virus (MPL), and colony-stimulating factor 3 receptor (CSF3R) were negative. …”
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  12. 194472
    “…Compared with the wild-type MMR subgroup, patients with MMR alterations, pathogenic MMR alterations, or MMR alterations of unknown significance showed higher rates of hotspot missense mutations or copy number amplifications in the AR gene (24/50 vs. 10/59, P = 7.8 × 10(–4); 7/7 vs. 10/59, P = 2.5 × 10(–5); 17/43 vs. 10/59, P = 0.013). …”
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  13. 194473
    “…A total of 123,711 SNPs were detected, of which 22.7% were nonsynonymous and 77.3% were synonymous mutations. The largest number of SNPs were detected on chromosomes 9 (24,007 SNPs; 19.4% of total) and 10 (16,852 SNPs, 13.6% of total). …”
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  14. 194474
  15. 194475
    “…BACKGROUND: Osteogenesis imperfecta or brittle bone disease is caused by mutations in the collegen type I gene which is a heterogeneous rare connective tissue disorder. …”
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  16. 194476
    “…Research on TTs is not limited to transgene expression but could be extended to the introduction of appropriate mutations into TTs via genome editing, paving the way for expression modulation of endogenous genes.…”
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  17. 194477
  18. 194478
    “…To this aim, 306 formalin-fixed and paraffin-embedded (FFPE) tissues from primary CM diagnosed in different geographical areas were submitted to B-RAF proto-oncogene serine/threonine kinase (BRAF) and N-RAS proto-oncogene GTPase (NRAS) mutational status detection and mRNA and miRNA profiling by qPCR. …”
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  19. 194479
  20. 194480
    “…We previously observed that patients with ovarian cancer wild-type for p53 had a poorer survival rate than did those with p53 mutations. Thus, a better understanding of the molecular changes of epithelial ovarian cancer cells with wild-type p53 in response to treatment with cisplatin could reveal novel mechanisms of chemoresistance. …”
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