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Mostrando 421 - 440 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.23s Limitar resultados
  1. 421
    “…ATRX mutated diffuse gliomas). CONCLUSION: We have identified PI3K mutations as novel prognostic markers in gliomas. …”
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    PI3 kinase mutations and mutational load as poor prognostic markers in diffuse glioma patients
  2. 422
    “…The hypothesis is that the number, or the specific combinations, of mutations harbored in each patient might not be as important as the disturbance caused in biological key functions, triggered by several not necessarily recurrent mutations.…”
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    The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations
  3. 423
    “…RESULTS: We identified 333 mutation positive families, in which 211 different putative pathogenic mismatch repair mutations were found. …”
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    Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations
  4. 424
    “…Despite this, no lower level of mutation fraction was detected for which EGFR TKI should be withheld in those with activating EGFR mutations.…”
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    Clinical impact of mutation fraction in epidermal growth factor receptor mutation positive NSCLC patients
  5. 425
    “…BRAF and KRAS genes are known to play a similar role in the activation of RAS-RAF-MEK-ERK signaling pathway in colorectal tumorigenesis. However, BRAF-mutated colorectal cancers (CRCs) have distinct clinicopathologic characteristics different from those of the KRAS mutated ones as in comparison the BRAF-mutated CRCs are associated with a much worse prognosis for the afflicted patients. …”
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    MicroRNA Expression Signatures Associated With BRAF-Mutated Versus KRAS-Mutated Colorectal Cancers
  6. 426
    “…Whole exome sequencing revealed a novel homozygous missense mutation in FTO and a nonsense mutation in the cholesteryl ester transfer protein (CETP). …”
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    A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
  7. 427
    por Salvatierra, Karina, Florez, Hector
    Publicado 2016
    “…Conclusion: BMA quickly, easily and effectively analyzes mutations, including complete documentation and examples. …”
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    Biomedical Mutation Analysis (BMA): A software tool for analyzing mutations associated with antiviral resistance
  8. 428
    “…Many mutations in cancer are of unknown functional significance. …”
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    3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets
  9. 429
    “…The latter model allows the evolutionarily conservative idea of increased mutations (per cell) without increased mutation rate (by virtue of extra gene copies per cell), whereas the former requires an increase in mutation rate, potentially accelerating evolution. …”
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    Adaptive Amplification and Point Mutation Are Independent Mechanisms: Evidence for Various Stress-Inducible Mutation Mechanisms
  10. 430
    por Kumar, Runjun D., Bose, Ron
    Publicado 2017
    “…In this study we use somatic cancer mutations to identify important functional residues within sets of related genes. …”
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    Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types
  11. 431
    “…Identified co-occurring mutations were primarily ASXL1 mutations in older patients and RAS mutations in younger patients; FLT3-ITD and IDH1/2 co-mutations were also frequent. …”
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    Clinical Outcomes and Co-Occurring Mutations in Patients with RUNX1-Mutated Acute Myeloid Leukemia
  12. 432
    “…Molecular modeling was performed to predict the putative structure functional impact of the missense mutations identified in this study. RESULTS: Ten patients had mutations in FGA followed by three mutations in FGB and three mutations in FGG, respectively. …”
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    Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
  13. 433
    “…We evaluated the association of mutations in 34 candidate genes and response to azacitidine in 84 patients with myelodysplastic syndrome (MDS), with 217 somatic mutations identified by next-generation sequencing. …”
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    Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes
  14. 434
    “…MSI-positive and POLE mutations were found in 29.0% and 8.7% EC patients, respectively. …”
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    Clinical impact of endometrial cancer stratified by genetic mutational profiles, POLE mutation, and microsatellite instability
  15. 435
    “…To investigate the contribution of the β‐catenin gene to the development of ovarian carcinomas, mutational analysis of exon 3 of the β‐catenin gene was conducted. …”
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    Mutational Analysis of β‐Catenin Gene in Japanese Ovarian Carcinomas: Frequent Mutations in Endometrioid Carcinomas
  16. 436
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    Epidermal Growth Factor Receptor Mutation Status: Does Younger Mean More Frequently Mutated?
  17. 437
    “…Here we used a mutation accumulation approach combined with whole-genome sequencing to investigate the temperature dependence of spontaneous mutation in an Escherichia coli strain. …”
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    Temperature responses of mutation rate and mutational spectrum in an Escherichia coli strain and the correlation with metabolic rate
  18. 438
    “…We directly estimated the spontaneous mutation rate and the mutational spectrum in the nonbiting midge C. riparius with a new approach. …”
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    Direct estimation of the spontaneous mutation rate by short‐term mutation accumulation lines in Chironomus riparius
  19. 439
    por Ahn, Eun Hyun, Lee, Seung Hyuk
    Publicado 2019
    “…Rare mutation context spectra obtained from NGS significantly vary across independent experiments, and it is not possible to identify a dominant mutation context. …”
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    Detection of Low-Frequency Mutations and Identification of Heat-Induced Artifactual Mutations Using Duplex Sequencing
  20. 440
    “…Of the 34 patients for whom total mutation burden (TMB; mutations/megabase [Mb]) was assessed, 5 (15%) had high TMB (≥20 mutations/Mb), 18 (53%) had intermediate TMB (6–19 mutations/Mb), and 11 (32%) had low TMB (≤5 mutations/Mb). …”
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    Comprehensive Genomic Profiling of Hodgkin Lymphoma Reveals Recurrently Mutated Genes and Increased Mutation Burden
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