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  1. 194721
    “…PD-L1 expression, line of therapy, histology, sex, smoking history, CNS metastases, EGFR and KRAS mutational status might be potential predictors for the therapeutic effect of anti-PD-1/PD-L1 immunotherapy in specific patients with NSCLC.…”
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    Predictive effect of molecular and clinical characteristics for the OS and PFS efficacy of anti-PD-1/PD-L1 immunotherapy in patients with NSCLC: a meta-analysis and systematic review
  2. 194722
    “…IMPORTANCE Species-specific markers are crucial for infectious disease diagnostics. Mutations within a marker sequence can lead to false-negative results, inappropriate treatment, and economic loss. …”
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    Novel DNA Markers for Identification of Actinobacillus pleuropneumoniae
  3. 194723
    “…Next-generation sequencing was performed to identify the mutated genes in the proband. Sanger sequencing was utilized to confirm the location of the pathogenic variant in all subjects. …”
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    Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young
  4. 194724
    “…ABSTRACT: Liquid biopsy has emerged as a novel approach to tumor characterization, offering advantages in sample accessibility and tissue heterogeneity. However, as mutational analysis predominates, the tumor microenvironment has largely remained unacknowledged in liquid biopsy research. …”
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    The Stroma Liquid Biopsy Panel Contains a Stromal-Epithelial Gene Signature Ratio That Is Associated with the Histologic Tumor-Stroma Ratio and Predicts Survival in Colon Cancer
  5. 194725
    “…Conclusion: This study reveals a low 7% prevalence of genetic FH in Emiratis with marked hypercholesterolemia as determined by correcting LDL-c for the use of lipid-lowering treatment. The portfolio of mutations identified is, to a large extent, unique and includes gene duplications. …”
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    Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates
  6. 194726
    “…ETV6 is a recurrently mutated/deleted gene in DLBCL for which its function in this disease entity is currently unknown. …”
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    High ETV6 Levels Support Aggressive B Lymphoma Cell Survival and Predict Poor Outcome in Diffuse Large B-Cell Lymphoma Patients
  7. 194727
    “…Purpose: We constructed and characterized knockout and conditional knockout mice for KCNJ13, encoding the inwardly rectifying K(+) channel of the Kir superfamily Kir7.1, mutations in which cause both Snowflake Vitreoretinal Degeneration (SVD) and Retinitis pigmentosa (RP) to further elucidate the pathology of this disease and to develop a potential model system for gene therapy trials. …”
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    Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
  8. 194728
    “…α-galactosidase (α-GAL) and α-N-acetylgalactosaminidase (α-NAGAL) are two glycosyl hydrolases responsible for maintaining cellular homeostasis by regulating glycan substrates on proteins and lipids. Mutations in the human genes encoding either enzyme lead to neurological and neuromuscular impairments seen in both Fabry- and Schindler/Kanzaki- diseases. …”
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    Schistosoma mansoni α-N-acetylgalactosaminidase (SmNAGAL) regulates coordinated parasite movement and egg production
  9. 194729
    “…The low-risk group showed more immune activities, higher tumor mutational burden (TMB), and higher CTAL4/PD1 expression, which was in line with a better response to immune checkpoint inhibitors. …”
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    Establishing a Prognostic Signature Based on Epithelial–Mesenchymal Transition-Related Genes for Endometrial Cancer Patients
  10. 194730
    “…Introduction: DEND syndrome is a rare channelopathy characterized by a combination of developmental delay, epilepsy and severe neonatal diabetes. Gain of function mutations in the KCNJ11 gene, encoding the K(IR)6.2 subunit of the I(KATP) potassium channel, stand at the basis of most forms of DEND syndrome. …”
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    Development of I(KATP) Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant K(IR)6.2 Based Channels for Treating DEND Syndrome
  11. 194731
    “…Next-generation sequencing analysis of progenies obtained from infected/senescent Vero-E6 cells demonstrated APOBEC-mediated SARS-CoV-2 mutations. Dissemination of the SARS-CoV-2-infection and senescence was confirmed in extrapulmonary sites (kidney and liver) of a COVID-19 patient. …”
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    Pulmonary infection by SARS-CoV-2 induces senescence accompanied by an inflammatory phenotype in severe COVID-19: possible implications for viral mutagenesis
  12. 194732
    “…Meanwhile, we investigated the mutations, potential biological functions and immune relevance of PLODs on the basis of the cBioPortal, Metascape and TIMER databases respectively. …”
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    Bioinformatic analysis of PLOD family member expression and prognostic value in non-small cell lung cancer
  13. 194733
    “…Among these, particularly interesting are inhibitors of CDK4 and 6, alpelisib (PI3K enzymes mutations), immune checkpoint (PD1, PDL1, CTLA4) inhibitors, atezolizumab. …”
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    The role of radiation therapy and systemic therapies in elderly with breast cancer
  14. 194734
    “…The proliferation and migration of CRC cells were evaluated after gain and loss-of function mutations. Interactions between CDKN2B-AS1 and miR-378b, miR-378b and CAPRIN2 were validated by luciferase reporter, RNA pull-down and RNA immunoprecipitation assays. …”
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    Upregulated lncRNA Cyclin‐dependent kinase inhibitor 2B antisense RNA 1 induces the proliferation and migration of colorectal cancer by miR-378b/CAPRIN2 axis
  15. 194735
    “…Additionally, we found that FBXO22 mutations were accompanied by altered substrate expression, especially in uterine corpus endometrial carcinoma and lung adenocarcinoma; endometrial carcinoma patients with FBXO22 genetic alterations also had better overall and relapse-free survival. …”
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    Pan-Cancer Analyses Reveal Oncogenic Role and Prognostic Value of F-Box Only Protein 22
  16. 194736
    “…Patients with a low baseline mTBI (<0.67) demonstrated significantly longer ascites PFS (P = 0.003; HR = 0.157; 95% CI: 0.046–0.540) and OS (P = 0.017; HR = 0.296; 95% CI: 0.109–0.804) than those with a high baseline mTBI (≥0.67). Consistent mutations were detected in plasma and ascites (r = 0.794; P = 0.001). …”
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    Ascites and Serial Plasma Circulating Tumor DNA for Predicting the Effectiveness of Hyperthermic Intraperitoneal Chemotherapy in Patients With Peritoneal Carcinomatosis
  17. 194737
    “…In a scenario where spike mutational drifts do not interfere with the Fc-conjugated antibody's epitope, the proposed furin competing strategy confers a broad-spectrum targeting design to impede the production of efficiently transmissible SARS-CoV-2 viral particles. …”
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    A Feasible Alternative Strategy Targeting Furin Disrupts SARS-CoV-2 Infection Cycle
  18. 194738
    “…Interestingly, the cells that generate myelin express the main enzyme for creatine synthesis, Gamt. Patients with Gamt mutations display intellectual delays and impaired myelination. …”
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    86583 The role of creatine in developmental myelination and remyelination
  19. 194739
    “…FRGscore-low patients were characterized by higher tumor mutational burden (TMB), immunoscore, immunophenoscore, and PD-L1 expression level and were associated with lower Tumor Immune Dysfunction and Exclusion (TIDE) score, whereas the opposite was observed in FRGscore-high patients. …”
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    Clinical Significance and Immune Landscape of Recurrence-Associated Ferroptosis Signature in Early-Stage Lung Adenocarcinoma
  20. 194740
    “…C1 also displayed a generally superior mutational burden, and C2 possessed a higher burden of copy number deletion. …”
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    Stemness Refines the Classification of Colorectal Cancer With Stratified Prognosis, Multi-Omics Landscape, Potential Mechanisms, and Treatment Options
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