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  1. 197581
    “…Our study also revealed several nonsynonymous mutations in ORF1b and S-proteins and the impact on their structural stability. …”
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    Comparative Genomic Analysis of Rapidly Evolving SARS-CoV-2 Reveals Mosaic Pattern of Phylogeographical Distribution
  2. 197582
    “…Ciprofloxacin-resistant Salmonella enterica were screened for plasmid-mediated resistance genes and mutations in gyrA, gyrB, parC, and parE. S. aureus isolates were tested for the presence of mecA and Panton-Valentine Leukocidin (PVL) and further genotyped by spa typing. …”
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    Regional Variation of Extended-Spectrum Beta-Lactamase (ESBL)-Producing Enterobacterales, Fluoroquinolone-Resistant Salmonella enterica and Methicillin-Resistant Staphylococcus aureus Among Febrile Patients in Sub-Saharan Africa
  3. 197583
    “…Targeting K(Ca)3.1 channels by channel openers or L-type Ca(2+) channels by DXM or simvastatin might be valuable approaches for treatment of CHI caused by mutations of K(ATP) channels not sensitive to K(ATP) channel openers.…”
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    Possible New Strategies for the Treatment of Congenital Hyperinsulinism
  4. 197584
    “…Specifically, the acute myeloid leukemia (AML)-specific mutated NPM1 (mNPM1)-derived neoantigen CLAVEEVSL was delivered to DCs in the form of αCD40(mNPM1) and αCD40.Flg(mNPM1) antibody constructs, making this study the first to investigate mNPM1 in a DC vaccination context. …”
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    Fusion of Bacterial Flagellin to a Dendritic Cell-Targeting αCD40 Antibody Construct Coupled With Viral or Leukemia-Specific Antigens Enhances Dendritic Cell Maturation and Activates Peptide-Responsive T Cells
  5. 197585
    “…METHODS: We performed a global transcriptional analysis comparing wild type (WT) E. faecalis OG1RF and an OG1RF derivative possessing a mutated allele of the madS gene that activates the MadRS system (OG1RFmadS(A202E)). …”
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    27. The Membrane Antimicrobial Peptide Defense (MadRS) System Orchestrates Resistance Against Antibiotics and Host Innate Immune Peptides in enterococcus Faecalis
  6. 197586
    “…BACKGROUND: DHHS guidelines recommend caution when interpreting HIV-1 DNA resistance testing because not all previously identified drug resistance mutations (DRMs) may be captured. Comparison of multiple reports from the same patient was performed to assess the ability of HIV-1 DNA testing to consistently identify wild-type and drug resistance alleles. …”
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    691. Results of Repeat HIV-1 DNA Resistance Tests Are Highly Concordant
  7. 197587
    “…BACKGROUND: HIV-1 drug resistance mutations (DRMs) are lost from plasma virus in the absence of selective drug pressure. …”
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    959. HIV-1 DNA Testing Identifies Drug Resistance in Viremic Patients with Pan-Sensitive Plasma Virus
  8. 197588
    “…[Image: see text] [Image: see text] [Image: see text] CONCLUSION: Preliminary results show that RS increased in recent years; strains RS to penicillin and ampicillin remain low. Variable pbp2x mutations have emerged and predominant strains have not yet been identified. …”
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    85. Characterization of Group B streptococcus Strains with Reduced Susceptibility to Beta-lactam Antibiotics, Active Bacterial Core Surveillance, 1998–2017
  9. 197589
    “…Numerically higher clinical cure and microbiological outcomes were observed with CFDC for Enterobacterales (Table 1), especially against NDM-producing bacteria or those with porin-channel mutations (Table 1). CFDC MIC values ranged between ≤0.03 and 4 μg/mL, except for one pathogen (Table 2). …”
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    165. Cefiderocol Treatment for Serious Infections Caused by Carbapenem-resistant Bacteria: Post-hoc Analysis of Outcomes by Pathogen in the CREDIBLE-CR Study
  10. 197590
    “…Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. …”
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    Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
  11. 197591
    por Zhu, Jie, Xiao, Jiani, Wang, Min, Hu, Daixing
    Publicado 2021
    “…Meanwhile, the correlation between m(6)A regulators and tumor mutational burden (TMB) were tested. Finally, the impacts of IRGs and TME clusters in clinical characteristics and outcomes were revealed. …”
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    Pan-Cancer Molecular Characterization of m(6)A Regulators and Immunogenomic Perspective on the Tumor Microenvironment
  12. 197592
    “…ZFIN curators add the submitted phenotype and mutant information to the ZFIN database, provide mapping information about mutations, and cross reference this information across the appropriate ZFIN databases. …”
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    ZebraShare: a new venue for rapid dissemination of zebrafish mutant data
  13. 197593
    “…LAY SUMMARY: Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate‐risk pathogenic variants (mutations) and among carriers of variants of uncertain significance. …”
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    Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients
  14. 197594
    “…WHAT IS KNOWN ALREADY: Biallelic mutations in the cystinosin (CTNS) gene in INC cause dysfunction in cystine transport across lysosomal membranes and cystine accumulation throughout the body. …”
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    Testicular function in males with infantile nephropathic cystinosis
  15. 197595
    “…This poses a diagnostic challenge of PC as the histopathological features overlap and requires an expert pathologist to make the diagnosis. Inactivating CDC73 mutations, encoding parafibromin, is the most common genetic abnormality. …”
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    Ectopic Atypical Parathyroid Adenoma Presenting With Pancreatitis
  16. 197596
    “…Using luciferase to image primary tumors and metastases containing lethal ERαD538G and ERαY537S mutations seen in metastatic breast cancer, oral and injected ErSO exhibited unprecedented antitumor activity. …”
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    ERa-Dependent Lethal Hyperactivation of the Anticipatory Unfolded Protein Response Induces Complete Regression Without Recurrence of Advanced Breast Cancer
  17. 197597
    “…Introduction: Maturity onset diabetes of the young type 5 (MODY 5) is an autosomal dominant, non-autoimmune form of diabetes mellitus caused by HNF1b gene mutations/deletions. Because of a high prevalence of chronic kidney disease (CKD) and end-stage renal disease (ESRD) in MODY 5 patients, understanding the extra-pancreatic manifestations of MODY 5 can target genetic testing to provide an earlier diagnosis. …”
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    17q12 Deletion Syndrome. A Rare Association Between Diabetes and Renal/Urogenital Abnormalities
  18. 197598
    “…She was diagnosed with thyroid hormone resistance and is undergoing genetic testing to differentiate the THRB genetic mutations from Non-TR-RTH. Her symptoms improved after discontinuing her levothyroxine. …”
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    Coexistence of Thyroid Hormone Resistance and Autoimmune Thyroid Disease: Not a Mere Coincidence
  19. 197599
    “…Background: Phosphoinositide 3-kinase inhibitors (PI3Ki) are a new class of medications used to treat HR positive, HER2 negative, PIK3CA mutated advanced or metastatic breast cancer. Inhibition of PI3K, a key enzyme in the insulin signaling pathway, leads to disruption of glucose metabolism and frequently hyperglycemia. …”
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    Phosphoinositide 3-Kinase Inhibitor-Induced Hyperglycemia
  20. 197600
    “…Introduction: Alpelisib is a phosphatidylinositol-3-kinase (PI3K) inhibitor, approved for the treatment of hormone receptor positive, human epidermal growth factor receptor-2 negative, PIK3CA-mutated metastatic breast cancer. While hyperglycemia is a known side effect of this drug, diabetes ketoacidosis (DKA) is rare. …”
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    A Case of Diabetic Keto Acidosis From Alpelisib
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