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Mostrando 901 - 920 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.53s Limitar resultados
  1. 901
    “…The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX. …”
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    PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
  2. 902
    “…We analyzed the Imatinib binding affinity to the native and mutated KIT (mutations V560G, S628N and D816V) and CSF-1R (mutation D802V) by using molecular dynamics simulations and energy calculations of Imatinib•target complexes. …”
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    Insight on Mutation-Induced Resistance from Molecular Dynamics Simulations of the Native and Mutated CSF-1R and KIT
  3. 903
    “…Nevertheless, the order of the adaptive steps was strongly affected by a mutational hotspot with an exceptionally high mutation rate of 10(−5). …”
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    A Mutational Hotspot and Strong Selection Contribute to the Order of Mutations Selected for during Escherichia coli Adaptation to the Gut
  4. 904
    “…Mutation rates and recombination rates vary between species and between regions within a genome. …”
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    Mutation rate analysis via parent–progeny sequencing of the perennial peach. II. No evidence for recombination-associated mutation
  5. 905
    “…Genome instability arises either due to defects in genes that cause an increased mutation rate (mutator phenotype), or defects in genes that cause chromosome instability (CIN). …”
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    Dosage Mutator Genes in Saccharomyces cerevisiae: A Novel Mutator Mode-of-Action of the Mph1 DNA Helicase
  6. 906
    “…More than 80% of patients had at least one mutation in the genes tested. DNMT3A mutation was significantly associated with adverse outcome in addition to conventional risk stratification such as the European LeukemiaNet (ELN) classification. …”
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    Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations
  7. 907
    “…RESULTS: Two recurrent PALB2 mutations, c.172_175delTTGT and c.509_510delGA, were identified, along with one novel mutation, c.347insT. …”
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    PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland
  8. 908
    “…BACKGROUND: Mutations in the estrogen receptor alpha (ERα) 1 gene (ESR1) are frequently detected in ER+ metastatic breast cancer, and there is increasing evidence that these mutations confer endocrine resistance in breast cancer patients with advanced disease. …”
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    Mutation site and context dependent effects of ESR1 mutation in genome-edited breast cancer cell models
  9. 909
    “…RESULTS: We discovered pathogenic or likely pathogenic germline mutations in 13.1% of our cohort. Pathogenic mutations were highly enriched for genes involved with DNA damage repair and for genes associated with cancer predisposition syndromes. …”
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    Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma Germline mutations in Ewing sarcoma
  10. 910
    “…However, all the patients subsequently developed a T315I mutation after treatment with TKIs. The rate of the BCR-ABL fusion gene in most of the patients who developed the T315I mutation was significantly higher than that before the mutation. …”
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    Characteristics and mutation analysis of Ph-positive leukemia patients with T315I mutation receiving tyrosine kinase inhibitors
  11. 911
    “…Somatic telomerase reverse transcriptase (TERT) promoter mutations have been recently identified in several types of malignant tumors, including thyroid neoplasia; however, the actual role of TERT mutations in thyroid tumorigenesis is still under debate. …”
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    TERT promoter mutations and their correlation with BRAF and RAS mutations in a consecutive cohort of 145 thyroid cancer cases
  12. 912
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    EZH2 mutations in chronic myelomonocytic leukemia cluster with ASXL1 mutations and their co-occurrence is prognostically detrimental
  13. 913
    “…Mutation rate is a crucial evolutionary parameter that has typically been treated as a constant in population genetic analyses. …”
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    Population Heterogeneity in Mutation Rate Increases the Frequency of Higher-Order Mutants and Reduces Long-Term Mutational Load
  14. 914
    “…Renal cell carcinomas induced in male Wistar rats by iron chelate of nitrilotriacetate (Fe‐NTA) were examined for mutations in ras oncogenes and p53 tumor suppressor gene. …”
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    Absence of ras Mutations and Low Incidence of p53 Mutations in Renal Cell Carcinomas Induced by Ferric Nitrilotriacetate
  15. 915
    “…BACKGROUND: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). …”
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    Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients
  16. 916
    “…However, the efficacy may be impaired by driver mutations in other genes. METHODS: Five hundred and fourteen consecutive patients with NSCLC of all stages were tested for EGFR-mutations by cobas® EGFR Mutation Test. …”
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    Concomitant driver mutations in advanced EGFR-mutated non-small-cell lung cancer and their impact on erlotinib treatment
  17. 917
    “…We found that the postzygotic mutation rate per cell division during early embryogenesis, especially during the first cell division, was higher than the average mutation rate in either male or female gametes. …”
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    A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations
  18. 918
    “…All mutated cases were smokers except a woman who was none. …”
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    EGFR mutation status in Tunisian non-small-cell lung cancer patients evaluated by mutation-specific immunohistochemistry
  19. 919
    “…Both of these mutations and associated phenotypes were discovered in the same family. …”
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    SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
  20. 920
    “…We prospectively collected family pedigrees of 443 Austrian ovarian cancer patients who had been tested for the presence of a germline BRCA or 2 mutations and correlated the familial breast and ovarian cancer burden with the prevalence of BRCA mutations and disease onset. …”
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    Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients
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