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Mostrando 541 - 560 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.50s Limitar resultados
  1. 541
    “…BACKGROUND: A subset of lung adenocarcinoma with EGFR-tyrosine kinase inhibitor sensitizing mutations (mEGFR) is common in non-smokers and women, suggesting that mutational stressors other than smoking are involved. …”
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    Different mutational characteristics of the subsets of EGFR-tyrosine kinase inhibitor sensitizing mutation-positive lung adenocarcinoma
  2. 542
    “…Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.…”
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    Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
  3. 543
    “…Subsequently, family segregation of identified mutations was performed by Sanger sequencing in all available family members. …”
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    Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report
  4. 544
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    Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
  5. 545
    “…Mutualisms can be promoted by pleiotropic win-win mutations which directly benefit self (self-serving) and partner (partner-serving). …”
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    Disentangling strictly self-serving mutations from win-win mutations in a mutualistic microbial community
  6. 546
    “…Ataxia-telangiectasia (A-T) syndrome is a rare autosomal recessive disorder mainly caused by mutations in the A-T mutated (ATM) gene. However, the genomic abnormalities and their consequences associated with the pathogenesis of A-T syndrome remain to be fully elucidated. …”
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    Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T
  7. 547
    “…We identified two novel mutations of PSEN1 (Y256N and H214R) in samples from these families, and a de novo mutation of PSEN1 (G206V) in a patient with very early-onset sporadic Alzheimer’s disease. …”
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    Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease
  8. 548
    “…We extensively characterized the associations of TP53 mutations and HRAS mutations with HNSCC immunity based on multiple cancer genomics datasets. …”
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    Correlate the TP53 Mutation and the HRAS Mutation with Immune Signatures in Head and Neck Squamous Cell Cancer
  9. 549
    “…Most adaptive mutations occurred elsewhere in the genome. Some mutations increase expression of the enzyme upstream of the weak-link enzyme, pushing material through the dysfunctional metabolic pathway. …”
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    Mutations that improve efficiency of a weak-link enzyme are rare compared to adaptive mutations elsewhere in the genome
  10. 550
    “…Due to rarity and heterogenicity of the condition the mutational spectrum, even in classical CHH genes, have yet to be fully characterized. …”
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    Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
  11. 551
    por Zhu, Gongmin, Pei, Lijiao, Li, Yuan, Gou, Xin
    Publicado 2020
    “…Bladder cancer is reported to have the third highest mutation rate. However, whether these gene mutations are related to TMB and immune response remain unknown. …”
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    EP300 mutation is associated with tumor mutation burden and promotes antitumor immunity in bladder cancer patients
  12. 552
    “…A higher TMB was observed in DNAH10-mutated cell lines. Taken together, DNAH10 mutations may have a potential value in prediction of cisplatin resistance and poor survival in SCLC. …”
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    DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer
  13. 553
    “…We previously described how four deleterious synonymous mutations in the Salmonella enterica rpsT gene (encoding ribosomal protein S20) result in low S20 levels that can be compensated by mutations that restore [S20]. …”
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    Synonymous Mutations in rpsT Lead to Ribosomal Assembly Defects That Can Be Compensated by Mutations in fis and rpoA
  14. 554
    por Wu, Guang, Yan, Shao-min
    Publicado 2006
    “…Using these approaches, we can monitor new mutations from influenza virus hemagglutinins and may predict their mutations in the future.…”
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    Mutation trend of hemagglutinin of influenza A virus: a review from a computational mutation viewpoint
  15. 555
    por Wu, Guang, Yan, Shaomin
    Publicado 2005
    “…With the determined 183 translation probabilities and amino-acid composition of eight highly mutated proteins, we construct the theoretical distributions of mutated amino acids in these proteins and then compare them with their actual distributions affected by mutations. …”
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    Determination of mutation trend in proteins by means of translation probability between RNA codes and mutated amino acids
  16. 556
    “…Seventy-six percent of patients with LGG express mutated isocitrate dehydrogenase (mIDH) enzyme. Survival of these patients ranges from 1 to 15 years, and tumor mutational burden ranges from 0.28 to 3.85 somatic mutations/megabase per tumor. …”
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    Tumor mutational burden predicts survival in patients with low-grade gliomas expressing mutated IDH1
  17. 557
    “…Bulk whole genome sequencing (WGS) enables the analysis of tumor evolution but, because of depth limitations, can only identify old mutational events. The discovery of current mutational processes for predicting the tumor’s evolutionary trajectory requires dense sequencing of individual clones or single cells. …”
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    A highly accurate platform for clone-specific mutation discovery enables the study of active mutational processes
  18. 558
    por Booker, Tom R.
    Publicado 2020
    “…Such methods perform well when beneficial mutations are mildly selected and frequent. However, when beneficial mutations are strongly selected and rare, they may make little contribution to standing variation and will thus be difficult to detect from the uSFS. …”
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    Inferring Parameters of the Distribution of Fitness Effects of New Mutations When Beneficial Mutations Are Strongly Advantageous and Rare
  19. 559
    por Choi, Seunghyuk, Paek, Eunok
    Publicado 2020
    “…RESULTS: We propose MutCombinator, which enables us to practically identify mutated peptides from tandem mass spectra allowing combinatorial mutations during the database search. …”
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    MutCombinator: identification of mutated peptides allowing combinatorial mutations using nucleotide-based graph search
  20. 560
    “…By analyzing 1,661 ICI-treated patients, we show that deletions and mutations in nucleotide excision repair (NER) and homologous repair (HR) pathways are predictors of ICI benefit independent of tumor mutation burden and tumor type. …”
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    DNA Repair Gene Mutations as Predictors of Immune Checkpoint Inhibitor Response beyond Tumor Mutation Burden
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