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Mostrando 401 - 420 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.54s Limitar resultados
  1. 401
    “…Final failure samples (weeks 14 to 48) typically showed a dominant strain with multiple mutations or N155H alone. Single N155H or multiple mutations were also observed in RAL-treated patients at virologic failure. …”
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    Development of Elvitegravir Resistance and Linkage of Integrase Inhibitor Mutations with Protease and Reverse Transcriptase Resistance Mutations
  2. 402
    “…If poor condition results from pre-existing deleterious mutations, the result is “fitness-dependent mutation rate,” which has interesting theoretical implications. …”
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    Invariance (?) of Mutational Parameters for Relative Fitness Over 400 Generations of Mutation Accumulation in Caenorhabditis elegans
  3. 403
    “…Mitochondrial DNA (mtDNA) mutator mice are proposed to express premature aging phenotypes including kyphosis and hair loss (alopecia) due to their carrying a nuclear-encoded mtDNA polymerase with a defective proofreading function, which causes accelerated accumulation of random mutations in mtDNA, resulting in expression of respiration defects. …”
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    Mitochondrial DNA Mutations in Mutator Mice Confer Respiration Defects and B-Cell Lymphoma Development
  4. 404
    “…Current estimates of the mutation rate and the mutational spectra in mismatch repair defective cells are primarily limited to a small number of individual reporter loci. …”
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    Mutation Rates, Spectra, and Genome-Wide Distribution of Spontaneous Mutations in Mismatch Repair Deficient Yeast
  5. 405
    “…Genome sizes and mutation rates covary across all domains of life. In unicellular organisms and DNA viruses, they show an inverse relationship known as Drake’s rule. …”
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    Correlation Between Mutation Rate and Genome Size in Riboviruses: Mutation Rate of Bacteriophage Qβ
  6. 406
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    Correction: Normal Mutation Rate Variants Arise in a Mutator (Mut S) Escherichia coli Population
  7. 407
    “…BACKGROUND: Increased number of single nucleotide substitutions is seen in breast and ovarian cancer genomes carrying disease-associated mutations in BRCA1 or BRCA2. The significance of these genome-wide mutations is unknown. …”
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    Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations
  8. 408
    “…Mutations in MYH10 have not been previously described in association with human disease. …”
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    A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice
  9. 409
    “…Identified mutations included a large deletion, nonsense and missense mutations. …”
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    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
  10. 410
    “…These programs also address the detection of sSNVs at low allele frequencies, allowing for the study of tumor heterogeneity, cancer subclones, and mutation evolution in cancer development. METHODS: We used whole genome sequencing (Illumina Genome Analyzer IIx platform) of a melanoma sample and matched blood, whole exome sequencing (Illumina HiSeq 2000 platform) of 18 lung tumor-normal pairs and seven lung cancer cell lines to evaluate six tools for sSNV detection: EBCall, JointSNVMix, MuTect, SomaticSniper, Strelka, and VarScan 2, with a focus on MuTect and VarScan 2, two widely used publicly available software tools. …”
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    Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers
  11. 411
    “…METHODS: Mutation screening of altogether 70 MED12 mutation-negative uterine leiomyomas was carried out by direct sequencing. …”
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    Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas
  12. 412
    “…Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. One of the hallmarks of NF1 is the high mutation rate in this gene. …”
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    Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing
  13. 413
    “…Our understanding of the evolutionary consequences of mutation relies heavily on estimates of the rate and fitness effect of spontaneous mutations generated by mutation accumulation (MA) experiments. …”
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    Fitness Is Strongly Influenced by Rare Mutations of Large Effect in a Microbial Mutation Accumulation Experiment
  14. 414
    “…In order to provide accurate and reliable genetic counseling and prenatal diagnosis, we screened DMD mutations in a cohort of 119 Chinese patients using multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) followed by Sanger sequencing. …”
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    Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients
  15. 415
    “…CONCLUSIONS: The two mutations identified in the present case were novel. …”
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    Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene
  16. 416
    “…BACKGROUND: Massively parallel sequencing studies have led to the identification of a large number of mutations present in a minority of cancers of a given site. …”
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    Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations
  17. 417
    “…Our data point to two independent and additive effects of FLG mutations: i) carrying a mutation and ii) having a mutation carrier mother. …”
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    Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance
  18. 418
    “…But little is known about the response to EGFR TKIs and the prognostic role of compound mutations. This study compared the uncommon EGFR exon 21 L858R compound mutations with single mutation to characterize EGFR compound mutations and investigated their response to EGFR TKI treatment. …”
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    Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation
  19. 419
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    Differences in disease activity in cryopyrin-associated periodic syndrome in mutation-positive and mutation-negative patients
  20. 420
    “…Remarkably, all but one TERT promoter-mutated tumor also contained MED12 mutations, indicating that these mutations are strongly associated (P=8.4 × 10(−6)). …”
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    TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors of the breast
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