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  1. 197141
    “…Due to the continuously mutating nature of the H3N2 virus, two aspects were considered when preparing the H3N2 microneedle vaccines: (1) rapid preparation and (2) cross-protection against multiple antigenic variants. …”
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    Development of the H3N2 influenza microneedle vaccine for cross-protection against antigenic variants
  2. 197142
    “…We evaluated thymomas and thymic carcinomas by next-generation sequencing (NGS) of somatic or germline single nucleotide variants (SNVs) in genes commonly mutated in solid tumours. In total, 19 thymomas and 34 thymic carcinomas were analysed for nonsynonymous SNVs in 15 genes by targeted NGS (reference genome: hg19/GRCh37). …”
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    Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas
  3. 197143
    “…Furthermore, our findings demonstrated that mutations and sCNA of the KCNQ1OT1/miR-378a-3p/RBMS1 axis were associated with increased immune infiltration, while the abnormal upregulation of the axis was primarily a result of hypomethylation. …”
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    Identification of the KCNQ1OT1/ miR-378a-3p/ RBMS1 Axis as a Novel Prognostic Biomarker Associated With Immune Cell Infiltration in Gastric Cancer
  4. 197144
    “…Immunotherapy response was measured using tumor mutational burden (TMB) and tumor immune dysfunction and rejection (TIDE) scores. …”
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    Cuproptosis-Associated lncRNA Establishes New Prognostic Profile and Predicts Immunotherapy Response in Clear Cell Renal Cell Carcinoma
  5. 197145
    “…Tumors with homologous recombination repair alterations were associated with clinical benefit from treatment with avelumab and talazoparib. Tumor mutational burden, tumor-infiltrating lymphocytes, and PD-L1 status were not associated with clinical benefit. …”
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    Evaluation of Treatment With Talazoparib and Avelumab in Patients With Recurrent Mismatch Repair Proficient Endometrial Cancer
  6. 197146
    “…The common cellular mechanisms shared by the mutant γ-amino butyric acid transporter 1 and cystic fibrosis transmembrane conductance regulator led us to hypothesize that 4-phenylbutyrate could be a potential treatment option for solute carrier Family 6 Member 1 mutations. We examined the impact of 4-phenylbutyrate across a library of variants in cell and knockin mouse models. …”
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    4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models
  7. 197147
    “…Rare deep-intron variants (n = 6), putatively acting as pseudo-exon activating mutations, have been characterized as pathogenic. Some variants have been characterized as benign/likely benign/of uncertain significance (n = 74). …”
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    SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
  8. 197148
    “…The sequencing of 13 specimens, which included 1 mother-newborn dyad, indicated clustering to the same phylogenetic lineage with identical mutations. In assessing for factors contributing to this outbreak, it was found that spaces between beds were less than 1 m and mothers had their meals around the same table at the same time. …”
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    An outbreak of infection due to severe acute respiratory corona virus-2 in a neonatal unit from a low and middle income setting
  9. 197149
    “…Since first reported in 2019, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is rapidly acquiring mutations, particularly in the spike protein, that can modulate pathogenicity, transmission and antibody evasion leading to successive waves of COVID19 infections despite an unprecedented mass vaccination necessitating continuous adaptation of therapeutics. …”
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    BSL2-compliant lethal mouse model of SARS-CoV-2 and variants of concern to evaluate therapeutics targeting the Spike protein
  10. 197150
    por Buisson, Yves
    Publicado 2022
    “…Its genome, an RNA of 29,903 nucleotides, shows strong homogeneity with bat coronaviruses from southern China, but the conditions for its passage in humans have yet to be elucidated. Mutations can give rise to variants of concern (VOC) that are more transmissible and able to evade the host's immune response. …”
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    Covid-19, an unfinished story
  11. 197151
    “…The results showed that tumor cells presenting mutations in mitochondrial DNA (mtDNA) (L929dt and L929(dt) cybrid cells) and reliant on glycolysis for survival were more sensitive to cell death induced by PT-112 compared to the parental and cybrid cells with an intact oxidative phosphorylation (OXPHOS) pathway (L929 and dt(L929) cybrid cells). …”
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    PT-112 Induces Mitochondrial Stress and Immunogenic Cell Death, Targeting Tumor Cells with Mitochondrial Deficiencies
  12. 197152
    “…For example, inactivating mutations of TRAF2 have been associated with tumor development, e.g., in multiple myeloma and mantle cell lymphoma. …”
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    TNF Receptor Associated Factor 2 (TRAF2) Signaling in Cancer
  13. 197153
    “…A comparative genomics analysis of all ST220 A. pittii strains from the public database was carried out. Point mutations, average nucleotide identity (ANI), DNA–DNA hybridization (DDH) distances, and pan-genome analysis were performed. …”
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    Emergence of uncommon KL38-OCL6-ST220 carbapenem-resistant Acinetobacter pittii strain, co-producing chromosomal NDM-1 and OXA-820 carbapenemases
  14. 197154
    “…ST17 isolates from China fell into Clade IV with part of isolates from the United Kingdom, the United States, South Korea, and Thailand, suggesting their close genetic relationship. Mutations in quinolone resistance-determining regions (QRDR) of GyrA and ParC, and plasmid-mediated quinolone resistance (PMQR) genes aac(6′)-Ib-cr, oqxAB, and qnrS as well as extended spectrum β-lactamases (ESBL) genes bla(CTX-M), bla(OXA), and bla(TEM) in isolates from Clade IV were much higher than those from other three clades. …”
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    Phylogenomic Analysis of Salmonella enterica Serovar Indiana ST17, an Emerging Multidrug-Resistant Clone in China
  15. 197155
    “…Illumina and nanopore sequencing were employed to examine their capsule loci and revealed unique mutations. Lastly, when incubated with sera from vaccinated individuals, the 14-like isolates evaded serotype-specific opsonophagocytic killing. …”
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    Variants of Streptococcus pneumoniae Serotype 14 from Papua New Guinea with the Potential to Be Mistyped and Escape Vaccine-Induced Protection
  16. 197156
    “…Further studies showed that MM102 effectively inhibited cisplatin-triggered DNA damage response (DDR), as indicated by dephosphorylation of ataxia telangiectasia mutated (ATM) and ATM and Rad-3 related (ATR) proteins, dephosphorylation of checkpoint kinase 1 and 2 (Chk1 and Chk2); depression of γ-H2AX; and restrained cell cycle arrest, as evidenced by decreased expression of p21 and phospho-histone H3 at serine 10 in vitro and in vivo. …”
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    Histone methyltransferase MLL1 drives renal tubular cell apoptosis by p53-dependent repression of E-cadherin during cisplatin-induced acute kidney injury
  17. 197157
    “…After that, E2F1 promotor methylation, mutations and copy number alterations were analyzed with UALCAN and cBioPortal. …”
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    E2F1 as a potential prognostic and therapeutic biomarker by affecting tumor development and immune microenvironment in hepatocellular carcinoma
  18. 197158
    “…This analysis pooled prospective data to compare the survival benefits of the two regimens for advanced NSCLC without targetable genetic mutations. METHODS: Data were pooled from three randomised phase III clinical trials: NCT03607539, NCT03134872 and NCT02954172. 466 patients received PD-1 inhibitor (200 mg) plus pemetrexed (500 mg/m²) and platinum (cisplatin 75 mg/m(2) or carboplatin area under the curve (AUC) 5 mg/mL/min), while 432 patients received bevacizumab (15 mg/kg) plus paclitaxel (175 mg/m(2)) and carboplatin (AUC 6 mg/mL/min). …”
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    PD-1 inhibitor plus chemotherapy versus bevacizumab plus chemotherapy in patients with advanced non-squamous non-small-cell lung cancer: a pooled analysis of three randomised trials
  19. 197159
    “…One hour after the surgical procedure, either CLP or Sham (control) mice were randomly assigned to receive once ICOS-Fc, (F119S)ICOS-Fc, a mutated form uncapable to bind ICOSL, or vehicle intravenously. …”
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    ICOS-Fc as innovative immunomodulatory approach to counteract inflammation and organ injury in sepsis
  20. 197160
    “…The expression of Regulator of chromatin condensation 1/small nucleolar RNA host gene 3/small nucleolar RNA host gene12 in BRCA, LGG and LIHC was associated with TP53 mutations. In addition, Regulator of chromatin condensation 1/small nucleolar RNA host gene 3/small nucleolar RNA host gene12 expression was closely associated with the prognosis of patients with multiple tumors. …”
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    Systematic pan-cancer analysis on the expression and role of regulator of chromatin condensation 1/small nucleolar RNA host gene 3/small nucleolar RNA host gene 12
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