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  1. 197441
    “…Also, genetic testing for CYP21A2 gene mutations was negative. Pelvic ultrasound was unremarkable. …”
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    FRI261 A Case Of Cushing Syndrome And Hyperandrogenism Secondary To An Adrenal Cortical Oncocytoma
  2. 197442
    “…The ST22 Indian isolates were analyzed in-depth, leading to the discovery of two new sublineages of hospital-acquired Staphylococcus aureus in India, both carrying antimicrobial resistance genes and mutations, which limit treatment options for patients. …”
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    Novel multidrug-resistant sublineages of Staphylococcus aureus clonal complex 22 discovered in India
  3. 197443
    “…A molecular docking analysis further revealed that three non-synonymous amino acid mutations, resulting from the polymorphic sites in three functional genes, could influence the binding properties between the enzymatic proteins and their substrates, which may subsequently alter the catalytic efficiency of enzymes. …”
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    The Identification of Functional Genes Affecting Fat-Related Meat Traits in Meat-Type Pigeons Using Double-Digest Restriction-Associated DNA Sequencing and Molecular Docking Analysis
  4. 197444
    “…In addition, the low-risk group, characterized by a higher number of infiltrating CD8+ T cells and a lower burden of tumor mutations, demonstrated a longer survival time. Our study also found that TMEscore correlated with drug susceptibility, immune cell infiltration, and the prediction of immunotherapy efficacy. …”
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    Identification and validation of a dysregulated TME-related gene signature for predicting prognosis, and immunological properties in bladder cancer
  5. 197445
    por Zhang, Genhao
    Publicado 2023
    “…Based on 146 TEXSRGs, we found two distinct clinical phenotypes with different TEX infiltration abundance, tumor stemness index, enrichment pathways, mutational landscape, and immune cell infiltration through the non-negative matrix decomposition algorithm (NMF), which were confirmed in the ICGC dataset. …”
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    Prognostic clinical phenotypes associated with tumor stemness in the immune microenvironment of T-cell exhaustion for hepatocellular carcinoma
  6. 197446
    “…Although the genetic variances of both traits fluctuated over time, in some windows, particularly between 2003 and 2020, increasing trends were observed, which warrants further research on the impact of other factors, such as novel mutations, operating on the dynamics of genetic variance.…”
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    Genetic Variance Estimation over Time in Broiler Breeding Programmes for Growth and Reproductive Traits
  7. 197447
    “…Background: Osimertinib has shown greater efficacy than standard epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) and fewer grade 3 or higher adverse drug reactions (ADRs) in patients with advanced non-small cell lung cancer (NSCLC) harboring epidermal growth factor receptor (EGFR) mutations. However, the clinical outcomes of osimertinib treatment vary depending on the patient’s ethnicity. …”
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    CYP450 and drug efflux transporters polymorphism influence clinical outcomes of Thai osimertinib-treated non-small cell lung cancer patients
  8. 197448
    por Bachmann, Cornelia
    Publicado 2023
    “…Having a family history of breast and OC is one of the main risks for developing OC. Mutations of BRCA1/2 are associated with OC risk as well. …”
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    New Achievements from Molecular Biology and Treatment Options for Refractory/Relapsed Ovarian Cancer—A Systematic Review
  9. 197449
    “…Using mcfDNA coverage, 22 mutations were identified at 10 mpoxv genomic loci in 9 case-patients. 21 of the 22 variants were G >A or C >T, consistent with the predominant variation observed in the 2022 mpoxv outbreak. …”
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    873. Detection of Monkeypox Virus Using Microbial Cell-free DNA: Demonstrating the Potential of Agnostic Sequencing for Real Time Identification of an Emerging Pathogen
  10. 197450
    “…Opportunistic infections during holding of TMP-SMZ or vGCV, incident CMV resistance mutations, and rejection events occurring when mycophenolate was held for myelosuppression were extremely rare. …”
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    2715. Toxicities and clinical consequences of valganciclovir prophylaxis in solid organ transplant recipients
  11. 197451
    “…To study the progressive propagation of Tau proteins in brain regions relevant for Alzheimer disease, we used mice expressing near-physiological levels of full-length human Tau protein carrying pro-aggregant (TauΔK280, Tau(ΔK)) or anti-aggregant (TauΔK280-PP, Tau(ΔK−PP)) mutations in the entorhinal cortex (EC). To enhance Tau expression in the EC, we performed EC injections of adeno-associated virus (AAV) particles encoding Tau(ΔK) or Tau(ΔK−PP). …”
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    Spreading of Tau Protein Does Not Depend on Aggregation Propensity
  12. 197452
    por Ong, Han Chuan, Palmer, Jeffrey D
    Publicado 2006
    “…Remarkably, nearly intact and expressed pseudogenes of rps14 have persisted in the mitochondrial genomes of most lineages of Poaceae and Cyperaceae despite the antiquity of the transfers and of the frameshift and RNA editing mutations that mark the mitochondrial genes as pseudogenes. …”
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    Pervasive survival of expressed mitochondrial rps14 pseudogenes in grasses and their relatives for 80 million years following three functional transfers to the nucleus
  13. 197453
    “…BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with monogenic mutations setting the stage for successful gene therapy treatment. …”
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    A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
  14. 197454
    “…Subsequently, the two genes sugR and cg2118 encoding for DeoR-type regulators were mutated and PTS gene transcription was found to be strongly enhanced in the presence of acetate only in the sugR deletion mutant. …”
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    The DeoR-type transcriptional regulator SugR acts as a repressor for genes encoding the phosphoenolpyruvate:sugar phosphotransferase system (PTS) in Corynebacterium glutamicum
  15. 197455
    por Christensen, Arne K, Jensen, Abbie M
    Publicado 2008
    “…In zebrafish, loss-of-function mutations in moe result in defects in brain ventricle formation, retinal pigmented epithelium and neural retinal development, pericardial edema, and tail curvature. …”
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    Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development
  16. 197456
    “…There are also reports describing a PWS-like phenotype in a subset of patients with full mutations in the FMR1 (fragile X mental retardation 1) gene. …”
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    Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
  17. 197457
    “…One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. …”
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    Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
  18. 197458
    “…One major molecular factor in the DDR is the protein, ataxia telangiectasia mutated (ATM). It is required for the rapid induction of cellular responses to DNA double-strand breaks. …”
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    ATM localization and gene expression in the adult mouse eye
  19. 197459
    “…Among the viral components, M1, M2 and NA play important roles in bud release and M1, M2 and NA mutations all affect the morphology of buds and released viruses. …”
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    Influenza virus morphogenesis and budding
  20. 197460
    “…BACKGROUND: Mutations that disrupt the open reading frame and prevent full translation of DMD, the gene that encodes dystrophin, underlie the fatal X-linked disease Duchenne muscular dystrophy. …”
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    Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
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