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  1. 194921
    “…There was something interesting that circPPP1R12A encoding protein circPPP1R12A‐73aa was found in NSCLC cells. Mutations in circPPP1R12a‐73AA might disrupt the function of circPPP1ra‐73AA in A549 and H1299 cells. …”
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    A peptide translated from circPPP1R12A promotes the malignancy of non‐small cell lung cancer cells through AKT signaling pathway
  2. 194922
    “…Unchecked replication of SARS-CoV-2 allows increases the chance that the virus may develop mutations that render vaccines and therapeutics less effective. …”
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    COVID-19 Vaccine Superstations as a Model to Rapidly Achieve Herd Immunity
  3. 194923
    “…Four m5C/m6A-related gene signatures consisting of HNRNPA2B1, IGF2BP2, NSUN4, and ALYREF were used to construct a prognostic risk model, and the high-risk group had a worse prognosis, higher immune checkpoint expression, and tumor mutational burden (TMB). In patients treated with immunotherapy, samples with high-risk scores had higher expression of immune checkpoint genes and better immunotherapeutic efficacy than those with low-risk scores. …”
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    Identification of a novel m5C/m6A-related gene signature for predicting prognosis and immunotherapy efficacy in lung adenocarcinoma
  4. 194924
    “…What is less understood is the impact of these mutations on thyroid cancer microenvironment and, in turn, the effect of changes in the microenvironment on tumor progression. …”
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    BRAF(V600E) Expression in Thyrocytes Causes Recruitment of Immunosuppressive STABILIN-1 Macrophages
  5. 194925
    “…In multicancer analysis, HMGB1 is also found linked with frequently genetic mutations and deletions, including in TMB and MSI which lead to resistance against antitumor immunotherapy and worse clinical prognosis among patients. …”
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    Oncogenic Role of HMGB1 as An Alarming in Robust Prediction of Immunotherapy Response in Colorectal Cancer
  6. 194926
    “…A putative pleiotropic effect of NUD or WIN1 gene mutations in barley can be assessed in a series of experiments in the presence or absence of a provoking factor. …”
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    Seedling Biometry of nud Knockout and win1 Knockout Barley Lines under Ionizing Radiation
  7. 194927
    “…Genetic analysis identified variants in 34 genes and 83.3% of patients had at least one gene variant. Among these, 9 were mutated in more patients. Most genes are related to autoimmune diseases like ATM, NCF1, MCM4, FCN3, and DOCK8 or to autoinflammatory diseases associated to the release of IFNγ like PRF1, NOD2, and MEF. …”
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    MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity
  8. 194928
    “…No single-step xeruborbactam resistance mutants were obtained after selection at 4× MIC of xeruborbactam using wild-type strains of E. coli, K. pneumoniae, and A. baumannii; mutations selected at 2× MIC in K. pneumoniae did not affect antibiotic potentiation by xeruborbactam through beta-lactamase inhibition. …”
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    Intrinsic Antibacterial Activity of Xeruborbactam In Vitro: Assessing Spectrum and Mode of Action
  9. 194929
    “…We employed initial coordinates based on PDB ID 1XJR for SARS-CoV s2m and two models for SARS-CoV-2 s2m: one based on 1XJR in which we introduced the mutations present in SARS-CoV-2 s2m and the second based on the available SARS-CoV-2 NMR NOE data supplemented with knowledge-based methods. …”
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    Structural, Dynamical, and Entropic Differences between SARS-CoV and SARS-CoV-2 s2m Elements Using Molecular Dynamics Simulations
  10. 194930
    “…CONCLUSIONS: Our study summarized comprehensive evidence showing that common mutations in CHRNA genes are strongly related to LC and COPD risk. …”
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    Epidemiological evidence for associations between variants in CHRNA genes and risk of lung cancer and chronic obstructive pulmonary disease
  11. 194931
    “…Depending on the RAS mutational status, 30 and eight patients were treated with Cmab and Bmab-based chemotherapy, respectively. …”
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    Identification of immune-related mechanisms of cetuximab induced skin toxicity in colorectal cancer patients
  12. 194932
    “…Hypertension and other cardiovascular symptoms contribute to the high morbidity and mortality of the disease. ADPKD is caused by mutations in the PKD1 gene or, less frequently, in the PKD2 gene. …”
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    Involvement of ceramide biosynthesis in increased extracellular vesicle release in Pkd1 knock out cells
  13. 194933
    “…RESULTS: We found that NEO2734 more potently suppresses CRC cell growth than first generation BET inhibitors, regardless of the status of common CRC driver mutations. We previously showed that BET inhibitors upregulate DR5 to induce extrinsic apoptosis. …”
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    Dual inhibition of BET and HAT/p300 suppresses colorectal cancer via DR5- and p53/PUMA-mediated cell death
  14. 194934
    “…ABSTRACT: GISTs are sarcomas of the gastrointestinal tract often associated with gain-of-function mutations in KIT or PDGFRA receptor genes. While most GISTs initially respond to tyrosine kinase inhibitors, relapses due to acquired resistance frequently occur. …”
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    Ferroptosis Induction and YAP Inhibition as New Therapeutic Targets in Gastrointestinal Stromal Tumors (GISTs)
  15. 194935
    “…In this work, targeted sequencing on sputum samples from TB patients was used to identify Mycobacterium tuberculosis mutations in genes associated with drug resistance and to derive a phylogeny of the infecting strain. …”
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    Rapid Identification of Drug Resistance and Phylogeny in M. tuberculosis, Directly from Sputum Samples
  16. 194936
    “…We also identified some amino acid changes in pocdhfr and powdhfr for which similar mutations in P. falciparum and P. vivax are associated with pyrimethamine or cycloguanil resistance. …”
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    Development and Optimization of a Selective Whole-Genome Amplification To Study Plasmodium ovale Spp.
  17. 194937
    “…We investigated the distribution, virulence, and pathogenic characteristics of mutated SARS-CoV-2 to clarify the association between virulence and the viral spreading ability of current and future circulating strains. …”
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    B.1.351 SARS-CoV-2 Variant Exhibits Higher Virulence but Less Viral Shedding than That of the Ancestral Strain in Young Nonhuman Primates
  18. 194938
    “…We used a molecular beacon to detect Mycobacterium tuberculosis (MTB) and mutations in the rpoB gene using a real-time polymerase chain reaction (PCR). …”
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    Trends in rifampicin resistance among patients with presumptive TB in the pre-COVID and COVID-era
  19. 194939
    por Puchalski, Adam, Hodge, Marybeth
    Publicado 2022
    “…Thyroseq was positive for aTERT and EIF1AX mutations. Ultrasound-guided fine-needle aspiration biopsy of the 4.2 cm left thyroid nodule revealed malignant cells consistent with a low-grade B-cell lymphoma. …”
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    PSAT295 Low Grade B-CELL Lymphoma and Follicular Cancer in a Patient with Hashimoto's Thyroiditis Presenting as Two Different Thyroid Nodules
  20. 194940
    “…BACKGROUND: Familial Hypophosphatasia (HPP) is a rare genetic disorder characterized by defecitve bone and/or teeth mineralization in the presence of low alkaline phosphatase activity due to loss-of-function mutations in the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene. …”
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    ODP592 Delay in Diagnosis of Adult with Familial Hypophosphatasia
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