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  1. 196701
    “…Whole-genome sequencing identified the outer capsid σ3 protein as the determinant of uncoating proficiency between wild reoviruses. Interestingly, mutations that permitted intracellular uncoating were found in 0.01% of the parental quasispecies, suggesting that variants with altered protease sensitivity were rapidly selected for during cell culture propagation. …”
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    Reovirus genomic diversity confers plasticity for protease utility during adaptation to intracellular uncoating
  2. 196702
    “…Frailty phenotypes overlap the spectrum of diseases (“laminopathies”) caused by mutations in LMNA. LMNA encodes nuclear intermediate filament proteins lamin A and lamin C (“lamin A/C”), important for tissue-specific signaling, metabolism and chromatin regulation. …”
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    Native lamin A/C proteomes and novel partners from heart and skeletal muscle in a mouse chronic inflammation model of human frailty
  3. 196703
    “…BACKGROUND: The tumor mutational burden (TMB) is high in melanomas owing to UV-induced oncogenesis. …”
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    Differential gradients of immunotherapy vs targeted therapy efficacy according to the sun-exposure pattern of the site of occurrence of primary melanoma: a multicenter prospective cohort study (MelBase)
  4. 196704
    “…NGS using a 25-gene panel (TumorSec) was performed to identify specific genomic mutations. The patients were then classified into one of the four CMS categories according to the clinical consensus of a Tumour Board. …”
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    Classification of patients with metastatic colorectal cancer into consensus molecular subtypes into real-world: A pilot study
  5. 196705
    “…METHODS: Gene expression profiles and clinical information of HCC datasets were obtained from International Cancer Genome Consortium and The Cancer Genome Atlas. Genes with somatic mutations and copy number variations were identified by cBioPortal analysis. …”
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    Identification of tumor antigens and immune subtypes of hepatocellular carcinoma for mRNA vaccine development
  6. 196706
    “…Ongoing molecular analysis will show if there is a role of mutational landscape in the definition of the oligometastatic state.…”
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    Investigating Nutritional and Inflammatory Status as Predictive Biomarkers in Oligoreccurent Prostate Cancer—A RADIOSA Trial Preliminary Analysis
  7. 196707
    “…However, it is suggested that HS mutations may disrupt the development of the lymphatic system leading to further complication. complications can be compound heterozygous, and there is a need for further research to identify nearby genes that can cause concomitant co‐morbidity.…”
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    Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia–Lymphedema–Intellectual–Disability Syndrome) complicated with comorbid Waldmann's Disease resulting in Celiac Disease
  8. 196708
    “…In the surgical piece, it is useful to determine the Ki 67 (carcinomas: >5%) (8). Somatic mutations in the TP53 gene are associated with aggressive phenotypes(9). …”
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    Androgen-secreting adenoma – a possibility in hyperandrogenism differential diagnosis
  9. 196709
    “…Using knock-in mice engineered to express the murine homologs of these human TLR4 mutations (“TLR4-SNP” mice), we have shown that TLR4-SNP mice develop significantly more severe colitis induced by dextran sodium sulfate (DSS) than wild-type (WT) mice, similar to IBD in humans expressing these SNPs. …”
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    M2a macrophages facilitate resolution of chemically-induced colitis in TLR4-SNP mice
  10. 196710
    “…Differences in patient characteristics were noted, with more BRCA1/2 mutations and higher mastectomy rates in the HER2-low group (p = 0.002, p < 0.001, respectively). …”
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    The Impact of HER2-Low Expression on Oncologic Outcomes in Hormone Receptor-Positive Breast Cancer
  11. 196711
    “…PLWH with known resistance mutations to DOR were excluded. Clinical and laboratory data were collected at the time of the switch and after 48 weeks. …”
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    1986. Switching to DOR/3TC/TDF Improves Renal Function and Decreases Lipid Levels in People Living With HIV: a Real-Life Multicentric Study
  12. 196712
    “…Subconsensus genome analysis revealed that differences of 1 nucleotide were due to subconsensus mutations fluctuating below and above 50%, suggesting all 7 individuals were part of a transmission cluster. …”
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    2285. Using Genomic Sequencing to Describe SARS-CoV-2 Transmission Dynamics in U.S. Major League Soccer Clubs
  13. 196713
    “…It is induced by driver (JAK2/CALR/MPL) and high molecular risk mutations coupled to a sustained inflammatory state that contributes to disease pathogenesis. …”
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    High cell-free DNA is associated with disease progression, inflammasome activation and elevated levels of inflammasome-related cytokine IL-18 in patients with myelofibrosis
  14. 196714
    “…We bilaterally injected adeno-associated viral vectors encoding A53T-mutated human α-synuclein into the substantia nigra of rats, and evaluated them 1, 2, 4 and 16 weeks post-inoculation by immunohistochemistry and immunofluorescence to study degeneration and distribution of α-synuclein in the midbrain and hippocampus. …”
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    Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit
  15. 196715
    por Roner, Michael R, Roehr, Joanne
    Publicado 2006
    “…Within the 3' sequence we discovered three regions that when mutated prevent the ssRNA from being replicated to dsRNA and subsequently incorporated into progeny virions. …”
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    The 3' sequences required for incorporation of an engineered ssRNA into the Reovirus genome
  16. 196716
    “…For high-affinity binding of wild-type IL-4 to its receptor IL-4Rα, only two of these clusters (i.e. cluster 1 centered around Glu9 and cluster 2 around Arg88) contribute significantly to the free binding energy. Mutating residues Thr13 or Phe82 located in cluster 3 to aspartate results in super-agonistic IL-4 variants. …”
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    A modular interface of IL-4 allows for scalable affinity without affecting specificity for the IL-4 receptor
  17. 196717
    “…Furthermore, reporter gene assay demonstrated that hypoxia markedly activated MCP-1 transcription but not the mutated MCP-1 promoter in transfected astrocytes. …”
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    Hypoxia-inducible factor-1 (HIF-1) is involved in the regulation of hypoxia-stimulated expression of monocyte chemoattractant protein-1 (MCP-1/CCL2) and MCP-5 (Ccl12) in astrocytes
  18. 196718
    Publicado 1996
    “…Additionally, in contrast to the situation for S. cerevisiae catalase A, which contains an internal PTS in addition to a COOH-terminal PTS1, human catalase lacks such a redundant PTS, as evidenced by the exclusive cytosolic location of human catalase mutated in the COOH-terminal PTS. Consistent with this species difference, fusions between catalase A and human catalase which include the catalase A internal PTS are targeted, at least in part, to peroxisomes regardless of whether the COOH-terminal human catalase PTS is intact.…”
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    Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting sequence
  19. 196719
    “…This scan yielded two valine residues in γ ENaC at positions 182 and 193 that resulted in inhibited responses to NE when simultaneously changed to other amino acids. The mutations resulted in decreased rates of activation and decreased activated steady-state current levels. …”
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    A Segment of γ ENaC Mediates Elastase Activation of Na(+) Transport
  20. 196720
    por Dirksen, Robert T., Beam, Kurt G.
    Publicado 1999
    “…We have examined the functional properties of skeletal (SkEIIIK) and cardiac (CEIIIK) DHPRs in which a highly conserved glutamate residue in the pore region of repeat III was mutated to a positively charged lysine residue. Using expression in dysgenic myotubes, we have characterized macroscopic ionic currents, intramembrane gating currents, and intracellular Ca(2+) transients attributable to these two mutant DHPRs. …”
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    Role of Calcium Permeation in Dihydropyridine Receptor Function: Insights into Channel Gating and Excitation–Contraction Coupling
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