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Mostrando 201 - 220 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.61s Limitar resultados
  1. 201
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    Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma – retraction
  2. 202
    “…BACKGROUND: A verifiable consequence of the mutator hypothesis is that even low grade neoplasms would accumulate a large number of mutations that do not influence the tumor phenotype (clonal mutations). …”
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    Clonal mutations in primary human glial tumors: evidence in support of the mutator hypothesis
  3. 203
    “…BACKGROUND: Several founder mutations leading to increased risk of cancer among Ashkenazi Jewish individuals have been identified, and some estimates of the age of the mutations have been published. …”
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    How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
  4. 204
    “…Alterations in genes involved in the repair of DNA mutations (mut genes) result in an increased mutation frequency and better adaptability of the bacterium to stressful conditions. …”
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    Mutations in Putative Mutator Genes of Mycobacterium tuberculosis Strains of the W-Beijing Family
  5. 205
    “…It is still an open question whether mutation rate can vary across the bacterial chromosome. …”
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    Mutation Frequency and Spectrum of Mutations Vary at Different Chromosomal Positions of Pseudomonas putida
  6. 206
    “…In addition to environmental factors and intrinsic variations in base substitution rates, specific genome-destabilizing mutations can shape the mutational trajectory of genomes. …”
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    Genome Destabilizing Mutator Alleles Drive Specific Mutational Trajectories in Saccharomyces cerevisiae
  7. 207
    “…Analysis of the transmission of RNU2 arrays associated with one ‘private’ mutation in an extended kindred and four founder mutations in multiple kindreds gave an estimation by maximum likelihood of 5 × 10(−3) mutations per generation, which is close to that of microsatellites.…”
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    Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing
  8. 208
    “…We propose a mutation set enrichment analysis (MSEA) implemented by two novel methods, MSEA-clust and MSEA-domain, to predict cancer genes based on mutation hotspot patterns. …”
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    MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis
  9. 209
    “…RESULTS: Seven significantly mutated genes, including four reported (APC, TP53, KRAS and SMAD4) and three novel recurrently mutated genes (CDH10, FAT4 and DOCK2), exhibited high mutation prevalence (6–14% for novel cancer genes) and higher-than-expected number of non-silent mutations in our CRC cohort. …”
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    Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer
  10. 210
    “…Mutations in ASXL1 are frequent in patients with myelodysplastic syndrome (MDS) and associated with adverse survival yet the molecular pathogenesis of ASXL1 mutations are not fully understood. …”
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    SETBP1 Mutations Drive Leukemic Transformation in ASXL1-Mutated MDS
  11. 211
    “…By the 1 (st) of August 2015, the dataset contained 300 mutations detected in over 150 different genes. More than half of the data collected reflect novel genetic variations that were first described in the Omani population, and most disorders with known mutations are inherited in an autosomal recessive fashion. …”
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    Repository of mutations from Oman: The entry point to a national mutation database
  12. 212
    “…The MutationAligner web resource, available at http://www.mutationaligner.org, enables discovery and exploration of somatic mutation hotspots identified in protein domains in currently (mid-2015) more than 5000 cancer patient samples across 22 different tumor types. …”
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    MutationAligner: a resource of recurrent mutation hotspots in protein domains in cancer
  13. 213
    “…An approach to detect significantly mutated residues, rather than methods that identify recurrently mutated genes, may uncover new biologically and therapeutically relevant driver mutations. …”
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    Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity
  14. 214
    “…We also first report the correlation between EYS mutations and RPSP. The genotypic-phenotypic relationship in all Chinese patients carrying mutations in the EYS gene were also reviewed and summarized.…”
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    Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations
  15. 215
    “…In this study, we investigated the mutation tendency of a mutator rodent malaria parasite, Plasmodium berghei, with proofreading-deficient DNA polymerase δ. …”
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    Mutation tendency of mutator Plasmodium berghei with proofreading-deficient DNA polymerase δ
  16. 216
    “…Lung cancer is the leading cause of cancer deaths, and effective treatments are urgently needed. Loss-of-function mutations in the DNA damage response kinase ATM are common in lung adenocarcinoma but directly targeting these with drugs remains challenging. …”
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    MEK inhibitors block growth of lung tumours with mutations in ataxia–telangiectasia mutated
  17. 217
    “…Genetic alterations of TERT and CTNNB1 have been documented in hepatocellular carcinoma. TERT promoter mutations are the earliest genetic events in the multistep process of hepatocarcinogenesis related to cirrhosis. …”
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    Frequent somatic TERT promoter mutations and CTNNB1 mutations in hepatocellular carcinoma
  18. 218
    por Lowdon, Rebecca F., Wang, Ting
    Publicado 2017
    “…However, it is more difficult to assign molecular biological consequences to noncoding mutations than to coding mutations, and a typical cancer genome contains many more noncoding mutations than protein-coding mutations. …”
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    Epigenomic annotation of noncoding mutations identifies mutated pathways in primary liver cancer
  19. 219
    “…Sequencing of whole tumor genomes holds the promise of revealing functional somatic regulatory mutations, such as those described in the TERT promoter. …”
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    Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature
  20. 220
    por Du, Chuance, Wu, Xiaoyuan, Li, Jia
    Publicado 2017
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    Retraction Note to: Mutation pattern is an influential factor on functional mutation rates in cancer
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