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  1. 197461
    “…In addition, a comparison of the genome sequences of the two strains showed that BL21 possesses two mutations in the promoter region of iclR and rare codons are present in arcA implying a lower tRNA acceptance. …”
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    Effect of iclR and arcA knockouts on biomass formation and metabolic fluxes in Escherichia coli K12 and its implications on understanding the metabolism of Escherichia coli BL21 (DE3)
  2. 197462
    “…We show that the Sulfolobus solfataricus P2 DNA polymerase IV (Dpo4) bypasses AFB(1)–N7-dG in an error-free manner but conducts error-prone replication past the AFB(1)–FAPY adduct, including misinsertion of dATP, consistent with the G→T mutations observed in E. coli. Three ternary (Dpo4–DNA–dNTP) structures with AFB(1)–N7-dG adducted template:primers have been solved. …”
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    Bypass of Aflatoxin B(1) Adducts by the Sulfolobus solfataricus DNA Polymerase IV
  3. 197463
    “…BACKGROUND: Aberrant Wnt/β-catenin signaling is associated with breast cancer even though genetic mutations in Wnt signaling components are rare. We have previously demonstrated that Rad6B, an ubiquitin conjugating enzyme, stabilizes β-catenin via polyubiqutin modifications that render β-catenin insensitive to proteasomal degradation. …”
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    Rad6B acts downstream of Wnt signaling to stabilize β-catenin: Implications for a novel Wnt/β-catenin target
  4. 197464
    “…The radiological, histopathologic and clinical phenotypes of age-related cerebral small vessel disease remarkably resemble autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, which is caused by mutations in NOTCH3. We hypothesized that genetic variations in NOTCH3 also play a role in age-related cerebral small vessel disease. …”
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    Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
  5. 197465
    “…Deletion of the caveolin-binding domain on striatin abolishes striatin family oligomerization and PP2A binding. Point mutations in striatin that disrupt PP2A association cause hyperphosphorylation and activation of striatin-associated Mst3. …”
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    Protein phosphatase 2a (PP2A) binds within the oligomerization domain of striatin and regulates the phosphorylation and activation of the mammalian Ste20-Like kinase Mst3
  6. 197466
    “…Such individuals may have an underlying skeletal dysplasia, as seen in LRP5 mutations. We aimed to characterize unexplained HBM and determine the potential for an underlying skeletal dysplasia. …”
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    ‘Sink or swim’: an evaluation of the clinical characteristics of individuals with high bone mass
  7. 197467
    “…The latter event would predict low levels of Gua → Thy mutations during replication bypass when the template 5′-neighbor base is dThy. …”
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    Replication Bypass of the trans-4-Hydroxynonenal-Derived (6S,8R,11S)-1,N(2)-Deoxyguanosine DNA Adduct by the Sulfolobus solfataricus DNA Polymerase IV
  8. 197468
    “…IPA for the 2,437 genes with > 1.5-fold induction identified the mitotic roles of polo-like kinase, aryl hydrocarbon receptor, cell cycle control, and ATM (Ataxia Telangiectasia Mutated Protein) signaling pathways; transcription factors identified included KLF1, GATA1 and NFE2 among others. …”
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    Characterization of the transcriptome profiles related to globin gene switching during in vitro erythroid maturation
  9. 197469
    “…BACKGROUND: In hereditary angioedema (HAE), diverse mutations in the C1-inhibitor gene may produce either normal C1-inhibitor protein in insufficient quantities (HAE type I), or a dysfunctional protein in normal or even excessive amounts (HAE type II). …”
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    458 Differences of Complement Activation Profile between Type I and Type II of Hereditary Angioedema Due to C1-inhibitor Deficiency
  10. 197470
    “…The aim of our study was to evaluate the relationship between genetic mutations leading to coagulation disorders and ONFH in Polish patients. …”
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    Prevalence of genetic risk factors related with thrombophilia and hypofibrinolysis in patients with osteonecrosis of the femoral head in Poland
  11. 197471
    “…METHODS: To gain insight into the function and evolutionary conservation of a gene interaction network that regulates biogenesis of a misfolded ABC transporter, we employed yeast genetics to develop a 'phenomic' model, in which the CFTR-ΔF508-equivalent residue of a yeast homolog is mutated (Yor1-ΔF670), and where the genome is scanned quantitatively for interaction. …”
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    A yeast phenomic model for the gene interaction network modulating CFTR-ΔF508 protein biogenesis
  12. 197472
    “…Nox4 mRNA and protein, ROS production, cell migration, and focal adhesion kinase (FAK) activation were examined in three different cell models based on their p53 mutational status. H1299, a p53-null lung epithelial cell line, was used for heterologous expression of WT-p53 or mutant p53. …”
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    Wild-type and mutant p53 differentially regulate NADPH oxidase 4 in TGF-β-mediated migration of human lung and breast epithelial cells
  13. 197473
    “…This approach allowed the detection of ADORA3 as a potential target for antibody-based therapy in p53 mutated tumors.…”
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    Characterization of a genetic mouse model of lung cancer: a promise to identify Non-Small Cell Lung Cancer therapeutic targets and biomarkers
  14. 197474
    “…The with-no-lysine (K)–1 (WNK1) kinase has been shown to be an important regulator of NKCC1 phosphorylation in many systems, including nocioception. Mutations in a neuronal-specific exon of WNK1 (HSN2) was identified in patients that have hereditary sensory neuropathy type II (HSANII) also implicates WNK1 in nocioception, such that these patients have loss of perception to pain, touch and heat. …”
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    Pathogenesis of spinal cord injury induced edema and neuropathic pain: expression of multiple isoforms of wnk1
  15. 197475
    “…No treatment-emergent primary PI mutations were detected in three patients with sustained elevations in HIV-1 RNA at least 400 copies/mL (two on PI monotherapy, one on triple therapy). …”
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    The PROTEA trial: darunavir/ritonavir with or without nucleoside analogues, for patients with HIV-1 RNA below 50 copies/mL
  16. 197476
    “…Patients with acute AIDS events, HBV, pregnancy, drug addiction or previous selected mutations to DRV or ETR were excluded. RESULTS: Ninety-nine patients were included, mean age: 47 years (r: 22–79); 70% men, 40.4% previous AIDS event and 39.3% HCV. …”
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    Dual therapy with darunavir/r plus etravirine is safe and effective as switching therapy in antiretroviral experienced HIV-patients. The BITER Study
  17. 197477
    “…A GRT was performed in 6/14 patients (one not amplifiable; four without mutations; one showed E138A). CONCLUSIONS: Compared to maintaining a PI/r-based triple ARV regimen, LPV/r QD monotherapy tended to have higher rate of virological failure and of discontinuation due to adverse event. …”
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    Randomized trial of DRV/r or LPV/r QD monotherapy vs maintaining a PI/r-based antiretroviral regimen in persons with suppressed HIV replication
  18. 197478
    “…One patient had virological failure after 14 months (HIV RNA 39,300 copies/mL); no mutations were detected and after introduction of DRV/r 600 mg b.i.d., he returned aviremic. …”
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    Efficacy of a reduced dose of DARUNAVIR/RTV in a cohort of antiretroviral-naïve and experienced HIV-infected patients: a medium-term follow-up
  19. 197479
    “…Four virus strains were isolated and genome analyses showed 99.6 ~100% genetic homology, with two amino mutations (V192I in NS and V280A in NP). 42% (11/26) of environmental samples collected in January were H7N9 positive. …”
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    A family cluster of three confirmed cases infected with avian influenza A (H7N9) virus in Zhejiang Province of China
  20. 197480
    “…BACKGROUND: Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 fusion proteins often show upregulation of wild type or mutated KIT receptor. However, also non-CBF-AML frequently displays upregulated KIT expression. …”
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    miR-17 deregulates a core RUNX1-miRNA mechanism of CBF acute myeloid leukemia
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