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  1. 197401
    “…Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. …”
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    Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
  2. 197402
    “…In adenocarcinoma patients with gene mutations, osimertinib significantly improved the outcome (median OS: 34.2 and 17.6 months with and without osimertinib, respectively (p = 0.0164)). …”
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    Brain metastases in Japanese NSCLC patients: prognostic assessment and the use of osimertinib and immune checkpoint inhibitors—retrospective study
  3. 197403
    “…All HIV mRNA species contain terminal trans-activation response (TAR) stem-loop sequences that potentially could activate PKR, yet even upon TAR deletion, HIV mRNA production remained sensitive to inhibitors of PKR activation. Bioinformatic and mutational analyses revealed a compact RNA pseudoknot upstream of 3′-terminal TAR that promotes splicing by activating PKR. …”
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    HIV co-opts a cellular antiviral mechanism, activation of stress kinase PKR by its RNA, to enable splicing of rev/tat mRNA
  4. 197404
    “…Documented variation includes point mutations, deletions, insertions, and recombination among closely or distantly related coronaviruses. …”
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    Intragenomic rearrangements involving 5′-untranslated region segments in SARS-CoV-2, other betacoronaviruses, and alphacoronaviruses
  5. 197405
    “…We attempted to constitute a predictive model for prognosis and favorable adjuvant EGFR-TKI outcome for patients with early-stage NSCLC and EGFR mutations. RESULTS: The TCR rearrangements demonstrated significant prediction for overall survival (OS). …”
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    Specific TCR profiles predict clinical outcome of adjuvant EGFR-TKIs for resected EGFR-mutant non-small cell lung cancer
  6. 197406
    “…The total number of detected MNVs, calculated gene variability and mutational signature analysis, were unaffected by the sequencing run. …”
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    TaME-seq2: tagmentation-assisted multiplex PCR enrichment sequencing for viral genomic profiling
  7. 197407
    “…Sensitivity for detection of ethionamide resistance was based only on Xpert MTB/XDR detection of mutations in the inhA promoter region, a known limitation. …”
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    Xpert MTB/XDR for detection of pulmonary tuberculosis and resistance to isoniazid, fluoroquinolones, ethionamide, and amikacin
  8. 197408
    por Lafage-Proust, Marie-Hélène
    Publicado 2022
    “…X-linked hypophosphatemia (XLH) is a genetic disease mostly related to PHEX gene mutations which increases FGF23 serum levels, leading to hypophosphatemia and osteomalacia in adults, while affected children, in addition, develop rickets. …”
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    What are the benefits of the anti-FGF23 antibody burosumab on the manifestations of X-linked hypophosphatemia in adults in comparison with conventional therapy? A review
  9. 197409
    “…Next, we found that compared with pN2-A stage patients, pN2-B stage patients had a higher frequency of canonical oncogenic pathway mutations and enrichments. At the single-cell level, we also found that the increase of endothelial cells and the decrease of cytotoxic T/natural killer (NK) cells led to a worse prognosis for pN2-B patients compared to pN2-A patients. …”
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    Development and validation of a gene-based classification model for pN2 lung adenocarcinoma
  10. 197410
    “…In cancer, this so-called ‘cell-free’ DNA (cfDNA) released from dying malignant cells encodes cancer-associated mutations. Thus, minimally invasive sampling of cfDNA in blood plasma can be used to diagnose, characterise and longitudinally monitor solid tumours at remote sites in the body. ~5% of carriers of Human T cell leukaemia virus type 1 (HTLV-1) develop Adult T cell leukaemia/lymphoma (ATL), and a similar percentage develop an inflammatory CNS disease, HTLV-1 associated myelopathy (HAM). …”
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    Detection of HTLV-1 proviral DNA in cell-free DNA: Potential for non-invasive monitoring of Adult T cell leukaemia/lymphoma using liquid biopsy?
  11. 197411
    “…These adducts primarily lead to G → T mutations, with AFB(1)–FapyGua being significantly more mutagenic than AFB(1)–N7-Gua. …”
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    Synthesis and Characterization of (15)N(5)-Labeled Aflatoxin B(1)–Formamidopyrimidines and Aflatoxin B(1)–N7-Guanine from a Partial Double-Stranded Oligodeoxynucleotide as Internal Standards for Mass Spectrometric Measurements
  12. 197412
    “…Most remarkably, up to 50% of PLO patients harbor mutations of LRP5, WNT1, and COL1A1/A2 (more damaged form with potential benefits from osteoanabolic drugs); gene testing might become the new norm in PLO. …”
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    Bridging the Gap: Pregnancy—And Lactation—Associated Osteoporosis
  13. 197413
    “…Most of the variants were found in mutational hot spots, mainly located in the cytosolic and extracellular region of the protein. …”
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    Genotype-phenotype correlation of rare variants in the SCN5A gene in children population
  14. 197414
    “…RESULTS: Totally, 100 eligible patients were enrolled, including 59 with nasopharyngeal carcinoma (NPC), 36 with epidermal growth factor receptor (EGFR)-mutated non-small-cell lung cancer (NSCLC), and those with other advanced solid tumors. …”
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    Phase I trial of KN046, a novel bispecific antibody targeting PD-L1 and CTLA-4 in patients with advanced solid tumors
  15. 197415
    “…Calibrated scores guided workflows to characterise mutational landscapes including RNA-based ArcherDx fusion panel (n=112), whole exome sequencing (n=84), and histological reviews in parallel. …”
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    HGG-15. HIGH-GRADE GLIOMAS OCCURRING IN TEENAGERS AND YOUNG ADULT PATIENTS COMPRISE NOVEL MOLECULAR SUBGROUPS
  16. 197416
    “…The dynamic nature of the tumor microenvironment and the mutational load driving tumor immunogenicity limit the efficacy to ICB. …”
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    Targeting immunosuppressive Ly6C+ classical monocytes reverses anti-PD-1/CTLA-4 immunotherapy resistance
  17. 197417
    “…Then, we performed a comprehensive analysis of 10 ETGs and miR-222-3p, including pathway enrichment analysis of ETGs, differential expression, clinical significance, correlation with immune cell infiltration, immune checkpoint genes (ICGs) expression, tumor mutational burden (TMB), microsatellite instability (MSI), stemness, drug sensitivity, and genetic alteration. …”
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    Identification and comprehensive analysis of epithelial–mesenchymal transition related target genes of miR-222-3p in breast cancer
  18. 197418
    “…WGS revealed accumulation of colistin resistance-associated mutations and F type multireplicon plasmids carrying antibiotic resistance and metal/copper tolerance genes. …”
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    From Farm to Fork: Persistence of Clinically Relevant Multidrug-Resistant and Copper-Tolerant Klebsiella pneumoniae Long after Colistin Withdrawal in Poultry Production
  19. 197419
    “…Through serial passages, four adaptive mutations (4M) were identified, and addition of 4M generated recombinant DV3syn_4M, which produced viral titers ranging from 1.5 × 10(4) to 6.7 × 10(4) FFU/mL and remained genetically stable in transformant bacteria. …”
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    Identification of an Arylnaphthalene Lignan Derivative as an Inhibitor against Dengue Virus Serotypes 1 to 4 (DENV-1 to -4) Using a Newly Developed DENV-3 Infectious Clone and Replicon
  20. 197420
    “…The subgroup of patients who were p53 immunoreactive was defined by positivity for anti-p53 antibodies in serum and nuclear accumulation of p53 oncosuppressor protein in more than 99% of cancer cells, which is considered a biomarker for p53 missense mutations. Anti-p53 antibody levels were measured using chemiluminescent enzyme immune assay. …”
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    Effect of Vitamin D Supplements on Relapse or Death in a p53-Immunoreactive Subgroup With Digestive Tract Cancer: Post Hoc Analysis of the AMATERASU Randomized Clinical Trial
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