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561
An evaluation of the severe acute respiratory infection surveillance system in Ireland
Published 2025-02-01“…Time to receipt of whole genome sequencing (WGS) results was 40 days (IQR 30–61). …”
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562
Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD.
Published 2025-02-01“…We performed the first whole-genome sequence association analysis of comorbid GERD and COPD in 12,438 multi-ancestry participants. …”
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563
Differences in phenotypes of normal and malignant cells concerning chromosomal fragility and ganglioside expression
Published 2025-02-01“…Additionally, the presence and expression of the tumor-suppressor gene HACE-1 in the genome of mouse embryonic stem cells (mESCs) and malignant human cervical carcinoma HeLa cells, both containing an additional copy of this gene, inserted by transfection with appropriate recombinant DNA vectors containing a copy of the tumor-suppressor gene, were tested. …”
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564
Long-term correction of hemophilia A via integration of a functionally enhanced FVIII gene into the AAVS1 locus by nickase in patient-derived iPSCs
Published 2025-01-01“…Abstract Hemophilia A (HA) is caused by mutations in coagulation factor VIII (FVIII). Genome editing in conjunction with patient-derived induced pluripotent stem cells (iPSCs) is a promising cell therapy strategy, as it replaces dysfunctional proteins resulting from genetic mutations with normal proteins. …”
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565
Pathogenicity of avian reovirus variant in the immune organs of broiler chicks
Published 2025-03-01“…In this study, an ARV strain (Chicken/XJ/China/2022/01/16) was isolated from arthritic broiler chicks in Xinjiang province and whole genome sequencing of the ARV strain was performed using next generation sequencing (NGS) technology, and sequence analysis showed that the strain was a type V variant of the ARV gene. …”
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566
Purification, Characterization and Antibacterial Mechanism of Plantaricin 2-1
Published 2025-02-01“…Additionally, P2-1 demonstrated the ability to bind to the genomic DNA of the indicator strains, thereby disrupting their DNA structure. …”
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567
Profiling the response of individual gut microbes to free fatty acids (FFAs) found in human milk
Published 2025-02-01“…., suppressed at 1 % but enhanced at 0.01 %. Our genome analyses suggest that pathobiont survival may be related to the number of gene copies for fatty acid transporters. …”
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568
Causal associations between socioeconomic status and prostate cancer using two-sample Mendelian randomization study
Published 2025-02-01“…Genetic variants were extracted from publicly available genome-wide association studies (GWAS) under stringent threshold as instrumental variables (IVs). …”
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569
Integrating phylogeographic and phenotypic evidence to delimit deep evolutionary lineages in the Dryophytes japonicus species complex, with an assessment of their conservation need...
Published 2025-02-01“…In this study, we assessed the genetic, genomic, morphological, and acoustic diversity and differentiation within the D. japonicus complex to propose taxonomic arrangements and assess taxon-specific threats for each defined clade. …”
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570
The case for development of a core outcome set (COS) and supplemental reporting guidelines for influenza vaccine challenge trial research in swine
Published 2025-02-01“…The checklist serves two purposes: as a reminder of details essential to report for inclusion of findings in meta-analyses and sub-group meta-analyses (e.g., antigenic or genomic descriptions of influenza vaccine and challenge viruses), and as an aid to help synthesis researchers fully characterize and comprehensively include studies in reviews.…”
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571
Sulfatase modifying factor 2 as a predictive biomarker for urothelial carcinoma
Published 2025-02-01“…High SUMF2 mRNA levels were associated with poor overall survival (OS) and disease-free survival (DFS) in bladder UC (BLCA) from The Cancer Genome Atlas (TCGA) dataset. High SUMF2 protein levels were associated with grade (P < 0.001), T status (P = 0.01), and stage (P = 0.006) in patients with BLCA. …”
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572
Multi-tissue network analysis reveals the effect of JNK inhibition on dietary sucrose-induced metabolic dysfunction in rats
Published 2025-02-01“…Coexpression analysis and genome-scale metabolic modeling reveal that sucrose overconsumption primarily induces transcriptional dysfunction related to fatty acid and oxidative metabolism in the liver and adipose tissues, which are largely rectified after JNK inhibition at a clinically relevant dose. …”
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573
PPIH is a novel diagnostic biomarker associated with immune infiltration in cholangiocarcinoma
Published 2025-02-01“…Methods We analyzed the expression levels, prognostic significance, and diagnostic efficiency of PPIH in CHOL using data from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) datasets, coupled with gene enrichment analyses. …”
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574
Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study
Published 2012-04-01“…COL3A1 mutations were identified by direct sequencing of genomic or complementary DNA.Results Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. …”
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575
Habitat fragmentation increases the risk of local extinction of small reptiles: A case study on Phrynocephalus przewalskii
Published 2025-01-01“…Results showed that individuals in highly fragmented areas exhibited smaller body size, higher reproductive investment, and lower genetic diversity. Genomic analyses revealed significantly fewer SNPs, INDELs, and SVs in the highly fragmented area compared to others, with the slowest linkage disequilibrium decay rate, indicating strong environmental pressure. …”
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576
Efficient k-mer based curation of raw sequence data: application in Drosophila suzukii
Published 2023-09-01“…We applied it to high-throughput whole-genome raw sequence data for 236 Ind-Seq and 22 Pool-Seq samples of the invasive species Drosophila suzukii. …”
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577
Serum Matrix Metalloproteinases and Risk of Urologic Cancers: A Bidirectional Mendelian Randomization Study
Published 2025-02-01“…Using data from large-scale genome-wide association studies (GWAS), we employed two-sample Mendelian randomization (MR) methods to assess the causal relationship between serum MMPs and urologic cancers. …”
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578
Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus
Published 2025-02-01“…Of these, a core set of 481 SNPs was filtered based on polymorphism information content and genome distribution. Both principal component analysis (PCA) and model-based clustering showed genetic differentiation between C. unshiu and C. sinensis. …”
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579
Genetic polymorphism of xenobiotic biotransformation genes, TNF-α and IL-4 in obstructive jaundice
Published 2015-09-01“…Overall 54 patients were divided into three comparison groups: those with obstructive jaundice of benign etiology, with cholestasis due to malignancy and uncomplicated gallstone disease. Genomic DNA of patients obtained from blood leukocytes analysed with application of «DNK-ekspresskrov» reagent utilizing «SNP-ekspress-RV» device of LLC Research and production company «Litekh» (Moscow).Results. …”
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580
Characterization of gene expression profiles in Alzheimer's disease and osteoarthritis: A bioinformatics study.
Published 2025-01-01“…In addition, the core genes were analyzed using gene set enrichment analysis and single-gene genome variation analysis.<h4>Results</h4>Analysis of DEGs on gene chips from OA and AD patients revealed significant changes in gene expression patterns. …”
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