Mostrando 2,361 - 2,380 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.68s Limitar resultados
  1. 2361
    por Dahl, Erika S., Aird, Katherine M.
    Publicado 2017
    “…The ataxia-telangiectasia mutated (ATM) protein kinase has been extensively studied for its role in the DNA damage response and its association with the disease ataxia telangiectasia. …”
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  2. 2362
  3. 2363
    “…An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. …”
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  4. 2364
    “…We then conducted MYLK3 gene screening of 15 DCM patients (7 familial and 8 sporadic) who were negative for mutation screening of the previously-reported cardiomyopathy-causing genes, and identified another case with a MYLK3 frameshift mutation (c.1879_1885del; p.L627fs*41). …”
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  5. 2365
    “…Nuclear organization of genomic DNA affects DNA damage and repair processes, and yet its impact on mutational landscapes in cancer genomes remains unclear. …”
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  6. 2366
    “…PURPOSE: There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). …”
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  7. 2367
    “…Although CAMT is genetically heterogeneous, mutations of MPL, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease‐causing alterations. …”
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  8. 2368
    “…Recent studies show that mutations in protein-coding mitochondrial DNA (mtDNA) genes and/or mitochondrial genes in nuclear DNA (nDNA) are associated with hepatocellular dysfunction. …”
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  9. 2369
  10. 2370
  11. 2371
    “…Acute myeloid leukemia (AML) patients with mutated FLT3 have a large disease burden at presentation and a dismal prognosis. …”
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  12. 2372
  13. 2373
  14. 2374
    “…BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. …”
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  15. 2375
  16. 2376
    “…Individuals harboring BRCA mutations are at a higher risk of developing breast and/or ovarian cancers. …”
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  17. 2377
    “…Nevertheless, many therapeutic approaches have been developed potentially useful to treat NSCLC patients mutated for KRAS and refractory to both standard chemotherapy and targeted therapies. …”
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  18. 2378
    “…After genome-wide linkage mapping, fine mapping, and high-throughput targeted sequencing, a recessive frameshift mutation of the heterogeneous nuclear ribonucleoprotein A1 (Hnrnpa1) gene was confirmed (Hnrnpa1(ct)). …”
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  19. 2379
    “…RESULTS: NSAID use reduced overall frequency of point mutations across the spectrum of mutation types, lowered the frequency of mutations even when adjusted for both TP53 mutation and smoking status, and decreased the prevalence of clones with high variant allele frequency. …”
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  20. 2380
    “…A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77%) of mutations that lead to defective splicing. …”
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