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1721
hnRNPH1 Inhibits Influenza Virus Replication by Binding Viral RNA
Published 2024-12-01“…Further studies indicated that hnRNPH1 specifically binds to the viral RNA of the PB1, PA, and NP genes. Mutation of the key residues tryptophan and tyrosine in RRM1 and RRM2 abolished the binding affinity to viral RNA and the suppression of polymerase activity of the influenza virus. …”
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1722
Dual role of Cathepsin S in cutaneous melanoma: insights from mendelian randomization and bioinformatics analysis
Published 2025-01-01“…In addition, high CTSS expression was significantly and positively correlated with tumor mutation rate, tumor microenvironment, immune cell infiltration, immune checkpoints and immunotherapy efficacy. …”
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1723
Impact of HIF-1α, LOX and ITGA5 Synergistic Interaction in the Tumor Microenvironment on Colorectal Cancer Prognosis
Published 2025-01-01“…In patients with KRAS, NRAS or BRAF mutation and the moderate to strong expression of all three of these proteins in the tumor microenvironment, the number of metastatic lymph nodes was higher than in other patients. …”
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1724
PARP inhibitor‐based treatment in metastatic, castration‐resistant prostate cancer (mCRPC): A systematic review and meta‐analysis
Published 2025-01-01“…Methods Primary endpoints are radiographic progression free survival (rPFS) and overall survival (OS) in patients with mCRPC and either unselected, homologous recombination repair wild‐type (HRR−), homologous recombination repair mutated (HRR+) or with BRCA1, BRCA2, or ATM mutation. …”
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1725
A minimal gene set characterizes TIL specific for diverse tumor antigens across different cancer types
Published 2025-02-01“…Abstract Identifying tumor-specific T cell clones that mediate immunotherapy responses remains challenging. Mutation-associated neoantigen (MANA) -specific CD8+ tumor-infiltrating lymphocytes (TIL) have been shown to express high levels of CXCL13 and CD39 (ENTPD1), and low IL-7 receptor (IL7R) levels in many cancer types, but their collective relevance to T cell functionality has not been established. …”
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1726
Effective Facial Expression Recognition System Using Artificial Intelligence Technique
Published 2024-12-01“…ANNS are inspired by the neural architecture of human brain capable of learning and recognizing patterns in unchartered data after trained examples, on the other hand GAs come from fundamental principles underlying natural selection perform optimization process based-on evolutionary methods which includes fitness evaluation, comparison, selection, crossover, and mutation. The research is an effort to mitigate the problems pertaining with conventional methods, like overfitting and generalization fault in order design FER model which has potential for performing much more accurately. …”
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1727
Sterol‐Targeted Laboratory Evolution Allows the Isolation of Thermotolerant and Respiratory‐Competent Clones of the Industrial Yeast Saccharomyces cerevisiae
Published 2025-01-01“…Notably, all evolved clones exhibited specific point mutations in MPM1 (P50S) and PDR1 (F749S). CRISPR‐Cas9 experiments confirmed the role of the pdr1F749S mutation in the FCNZ‐tolerance phenotype and demonstrated that Mpm1 is required for growth at high temperatures. …”
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1728
Transcription Factor E2F-1 Is Upregulated in Human Gastric Cancer Tissues and Its Overexpression Suppresses Gastric Tumor Cell Proliferation
Published 2007-01-01“…PCR-SSCP analysis demonstrated that mutations were not detected in any of the gastric cancer and normal tissue specimens. …”
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1729
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
Published 2021-01-01“…SIFT, PolyPhen2, M-CAP, CADD, FATHMM-MKL, DANN, PANTHER, Mutation Taster, LRT, and SNAP2 had a significant score for identifying deleterious nsSNPs. …”
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1730
The Timing and Spectral Properties of the 2022 Outburst of SGR J1935+2154 Observed with NICER
Published 2025-01-01“…These results manifest the connection between the glitch, phase jump, X-ray burst, and radio burst, crucial for studying the mutation in twisted magnetic fields and constraining the trigger mechanism of radio bursts.…”
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1731
Enhancing PDAC therapy: Decitabine-olaparib synergy targets KRAS-dependent tumors
Published 2025-02-01“…Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations are found in 90% of PDAC cases, and tumors dependent on KRAS (dKRAS) can be identified using gene expression signature scores. …”
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1732
Seven Immune-Related Genes’ Prognostic Value and Correlation with Treatment Outcome in Head and Neck Squamous Cell Carcinoma
Published 2023-01-01“…The signature was also evaluated based on clinical variables, predictive nomogram, mutation analysis, infiltrating immune cells, immune-related pathways, and chemotherapeutic efficacy. …”
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1733
CRISPR/Cas9-editing of PRNP in Alpine goats
Published 2025-01-01“…Among the 10 newborns, eight founder animals carrying PRNP genome-edited alleles were obtained. Eight different mutated alleles were observed, including five inducing KO mutations. …”
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1734
A variant in GRN of Spanish origin presenting with heterogeneous phenotypes
Published 2025-01-01“…Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. …”
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1735
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
Published 2024-03-01“…In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.…”
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1736
Dissecting the role of single nucleotide polymorphism of lymphotoxin beta gene during pig domestication using bioinformatic and experimental approaches
Published 2016-01-01“…A linkage disequilibrium between rs340283541 and another functionally significant mutation in LTB is also conceivable.…”
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1737
Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia
Published 2013-01-01“…X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins. …”
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1738
Prevalence and antimicrobial resistance of three clones (ST1223, ST2198, ST2250) of Staphylococcus argenteus clinical isolates in northern Japan
Published 2025-01-01“…These isolates had intact haemolysin genes and promoter regions; however, a novel deletion mutation in hlg-component A was detected in some haemolytic and non-haemolytic isolates. …”
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1739
A common mechanism of detoxification for lambda-cyhalothrin and abamectin in Cydia pomonella
Published 2023-11-01“…Results The best known target-site mutations caused by LCT and AM, including L1014F in VGSC and V263I, A309V, I321T, and G326E in GluCl were not occurred. …”
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1740
SCN10A gene polymorphism is associated with pain sensitivity and postoperative analgesic effects in patients undergoing gynecological laparoscopy
Published 2025-01-01“…Postoperative pain indicators, such as visual analog scale (VAS) scores, Ramsay scores, and side effects were recorded. SCN10A rs6795970 mutations were identified using MassARRAY SNP typing technology, and patients were categoried into homozygous mutant (AA), wild type (GG), and heterozygous mutation (GA) groups for analysis. …”
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