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  1. 197201
    “…Elderly patients with normal ET progressed more rapidly than controls, suggesting that longer exposure time to high-grade tumors could adversely impact sequential cancer mutations, where normal ET is not anymore protective on disease progression.…”
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    Normal preoperative endogenous testosterone levels predict prostate cancer progression in elderly patients after radical prostatectomy
  2. 197202
    “…The association was stronger in patients with non-squamous than squamous histology, with smoking history than non-smokers, and with prior chemotherapy than first-line CPI. Higher tumor mutational burden (TMB) (≥10.44 mut/Mb) was also specifically associated with durable response to CPI (OR=0.40; 95% CI 0.29 to 0.54; p<0.001). …”
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    Predictive biomarkers for PD-1/PD-L1 checkpoint inhibitor response in NSCLC: an analysis of clinical trial and real-world data
  3. 197203
    “…Furthermore, seven vaccinated patients (two IDH-1-mutated and five wild type) remain alive at the time of this report (overall survival 47.9 months, SD 21.1, range: 25.4–78.6 months since diagnosis; and 34.2 months since recurrence, range: 17.8 to 40.7, SD 21.3). …”
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    Adjuvant Vaccination with Allogenic Dendritic Cells Significantly Prolongs Overall Survival in High-Grade Gliomas: Results of a Phase II Trial
  4. 197204
    por Li, Fulei, Xue, Xiaofei
    Publicado 2023
    “…We utilised the survminer R package to evaluate the tumour mutational burden (TMB). Moreover, the gene set enrichment analysis (GSEA) helped in pathway enrichment analysis, and the immune infiltration level of the model was evaluated using the IMvigor210 cohort. …”
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    Identification and Characterization of an Ageing-Associated 13-lncRNA Signature That Predicts Prognosis and Immunotherapy in Hepatocellular Carcinoma
  5. 197205
    “…METHODS: The binding affinity of the super mutated IL-2 (sum IL-2) in various T cell subtypes was measured. …”
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    Implication of (99m)Tc-sum IL-2 SPECT/CT in immunotherapy by imaging of tumor-infiltrating T cells
  6. 197206
    “…Understanding the signals received by the intestinal immune system to generate TRM responses is paramount to elucidating treatments for CD. Genetic mutations in NOD2 are associated with the highest risk of CD development. …”
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    A173 ELUCIDATING THE EFFECTS OF NOD2-MEDIATED SIGNALLING ON INTESTINAL RESIDENT-MEMORY T-CELL FORMATION AND FUNCTION
  7. 197207
    “…PCR diagnostics revealed the presence of ace1-G280S and the kdr L995F, L995S and N1570Y target-site mutations. Additionally, several genes were upregulated, including five P450s (i.e., CYP6P3, CYP6M2, CYP9K1, CYP6Z1, CYP6P1) and GSTE2. …”
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    Species composition and insecticide resistance in malaria vectors in Ellibou, southern Côte d’Ivoire and first finding of Anopheles arabiensis in Côte d’Ivoire
  8. 197208
    “…Nearly 70% of patients with PPB demonstrate germline mutations in DICER1. Review of RNA sequencing data demonstrates the difficulty in classifying splice variants such as this. …”
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    Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing
  9. 197209
    “…BACKGROUND AND AIM: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. …”
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    Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study
  10. 197210
    “…Mismatches and gaps in the expressed sequences identified altered splicing and mutations in the EVS, with most of them, affecting different components of septin ring formation in the budding process. …”
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    Novel evolved Yarrowia lipolytica strains for enhanced growth and lipid content under high concentrations of crude glycerol
  11. 197211
    “…Some PD-related monogenic mutations have been reported among factors that influence response to DBS. …”
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    Association of polygenic risk score with response to deep brain stimulation in Parkinson’s disease
  12. 197212
    “…BACKGROUND: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. …”
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    Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients
  13. 197213
    “…BACKGROUND: Roughly 50% of adult gliomas harbor isocitrate dehydrogenase (IDH) mutations. According to the 2021 WHO classification guideline, these gliomas are diagnosed as astrocytomas, harboring no 1p19q co-deletion, or oligodendrogliomas, harboring 1p19q co-deletion. …”
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    Stalled oligodendrocyte differentiation in IDH-mutant gliomas
  14. 197214
    “…BACKGROUND: Liquid biopsies and the dynamic tracking of somatic mutations within circulating tumour DNA (ctDNA) can provide insight into the dynamics of cancer evolution and the intra-tumour heterogeneity that fuels treatment resistance. …”
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    ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA
  15. 197215
    “…The nucleotide variants were most abundant in the non-coding regions of the genome and of those the intergenic regions had the most. Mutational hotspots were primarily found in the LSC regions. …”
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    The pan-plastome of tartary buckwheat (fagopyrum tataricum): key insights into genetic diversity and the history of lineage divergence
  16. 197216
    “…IMDs often present with non-specific symptoms, a lack of a clear genotype–phenotype correlation, and de novo mutations, complicating diagnosis. Furthermore, products of one metabolic conversion can be the substrate of another pathway obscuring biomarker identification and causing overlapping biomarkers for different disorders. …”
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    Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations
  17. 197217
    “…Eight and 10 participants with CVF had treatment-emergent, resistance-associated mutations to RPV and integrase inhibitors, respectively. …”
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    Long-Acting Cabotegravir and Rilpivirine Dosed Every 2 Months in Adults With Human Immunodeficiency Virus 1 Type 1 Infection: 152-Week Results From ATLAS-2M, a Randomized, Open-Label, Phase 3b, Noninferiority Study
  18. 197218
    “…Here, we performed genome wide association study (GWAS) to identify growth rate-associated genes and mutations. RESULT: In the current study, the body weight data of 358 ducks were recorded every 10 days from hatching to 120 days of age. …”
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    Identification of the genetic basis of the duck growth rate in multiple growth stages using genome-wide association analysis
  19. 197219
    “…BACKGROUND: Antibiotics exert an outstanding selective pressure on bacteria, forcing their chromosomal gene mutations and drug resistance genes to spread. The objective of this study is to evaluate the expression of the New Delhi Metallo-β-Lactamase-1 gene (bla(NDM−1)) in the clinical isolate (Klebsiella pneumoniae TH-P12158), transformant strains Escherichia coli BL21 (DE3)-bla(NDM−1), and Escherichia coli DH5α- bla(NDM−1) when exposed to imipenem. …”
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    Evolution of carbapenem resistance in klebsiella pneumoniae and escherichia coli carrying bla(NDM−1) gene: imipenem exposure results in sustained resistance memory of strains in vitro
  20. 197220
    “…We demonstrate that loss-of-function mutations impairing key steps of the RAF activation cycle can be used as calibrators to gauge the dynamics of heterodimerization. …”
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    Analysis of RAS and drug induced homo- and heterodimerization of RAF and KSR1 proteins in living cells using split Nanoluc luciferase
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