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  1. 8621
    “…Most high throughput genomic data analysis pipelines currently rely on over-representation or gene set enrichment analysis (ORA/GSEA) approaches for functional analysis. In contrast, topology-based pathway analysis methods, which offer a more biologically informed perspective by incorporating interaction and topology information, have remained underutilized and inaccessible due to various limiting factors. …”
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    PSF toolkit: an R package for pathway curation and topology-aware analysis
  2. 8622
    “…Protein modeling analysis indicates that ERNs primarily consist of secondary structures and protein stabilizing forces (i.e., hydrophobic clusters, hydrogen bond networks, and salt bridges). Gene functional analysis shows that ENRs are involved in many ecdysis-related functions, including ecdysis-triggering hormone activity, neuropeptide signaling pathway, and corazonin receptor binding. …”
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    Identification and characterization of ecdysis-related neuropeptides in the lone star tick Amblyomma americanum
  3. 8623
    “…The Cas2 equivalent catalytic aspartate (D11) pairs are conserved in BPSL1038 although B. pseudomallei has no known CRISPR associated system. Functional analysis revealed that BPSL1038 is a nuclease with endonuclease activity towards double-stranded DNA. …”
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    Structural and functional analyses of Burkholderia pseudomallei BPSL1038 reveal a Cas-2/VapD nuclease sub-family
  4. 8624
    “…METHODS: A cohort of 16 Chinese probands with leukodystrophy was recruited and performed genetic analysis by targeted panels or whole‐exome sequencing. Further functional analysis of identified mutations in the colony stimulating factor 1 receptor (CSF1R) gene was explored. …”
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    Clinical, genetic, and molecular characteristics in a central‐southern Chinese cohort of genetic leukodystrophies
  5. 8625
    “…Collectively, these results suggest that SF1 can be useful for the functional analysis of 6-sulfo sLe(x) and may potentially serve as a novel therapeutic agent against immune-related diseases.…”
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    A novel monoclonal antibody against 6-sulfo sialyl Lewis x glycans attenuates murine allergic rhinitis by suppressing Th2 immune responses
  6. 8626
    “…Certain bacterial genera were also affected in a line-dependent manner, with HS tending to increase relative abundance in CeL microbiota of slow-growing lines, while decreases were common in fast-growing lines. Predictive functional analysis suggested a greater impact of HS on metabolic pathways in L2015 compared to other lines.…”
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    Cecal microbiota composition differs under normal and high ambient temperatures in genetically distinct chicken lines
  7. 8627
    “…The catalytic function of these CcSADs was further analyzed by heterologous expression in Saccharomyces cerevisiae, Nicotiana benthamiana, and walnut. Functional analysis demonstrated that all CcSADs had fatty acid desaturase activity to catalyze oleic acid biosynthesis. …”
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    Analysis of Delta(9) fatty acid desaturase gene family and their role in oleic acid accumulation in Carya cathayensis kernel
  8. 8628
    por Verkerk, Arie O., Wilders, Ronald
    Publicado 2023
    “…These days, in vitro functional analysis of gene variants is becoming increasingly important for risk stratification of cardiac ion channelopathies. …”
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    The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data
  9. 8629
    “…These data provide independent evidence that PRORP variants are associated with COXPD54 and that the assessment of 5′ leader mitochondrial tRNA processing is a valuable assay for the functional analysis and clinical interpretation of novel PRORP variants.…”
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    Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
  10. 8630
    “…Thus, this study aimed to apply structure-functional analysis to define the functional peptide of p40 that modulates the epigenetic program in intestinal epithelial cells for sustained prevention of colitis. …”
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    Identification of a functional peptide of a probiotic bacterium-derived protein for the sustained effect on preventing colitis
  11. 8631
    por Xu, Mingming, Yang, Mingjun
    Publicado 2023
    “…We constructed nomogram models to further delineate DDX52’s influence on prognosis, employed GSEA for functional analysis, and used qRT-PCR to examine DDX52 expression in LUAD tissues. …”
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    DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target
  12. 8632
    “…(Arg3381Ter) variants were identified in PKHD1L1 that were predicted to be damaging using in silico pathogenicity prediction methods. In vitro functional analysis of two missense variants was performed using purified recombinant PKHD1L1 protein fragments. …”
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    PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
  13. 8633
    “…Ten candidate genes were selected for qRT-PCR verification and the results showed that the transcriptomic data was reliable. Through the functional analysis of candidate genes by the virus-induced gene silencing (VIGS) system, it was found that the gene TaHPPD (4-hydroxyphenylpyruvate dioxygenase) negatively regulated the resistance of wheat to stripe rust by affecting SA signaling, pathogenesis-related (PR) gene expression, and ROS clearance. …”
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    Transcriptomic analysis of wheat reveals possible resistance mechanism mediated by Yr10 to stripe rust
  14. 8634
    “…Transcriptomic analysis unraveled overt heterogeneous expression as treated with both administrations compared with monotherapy. Functional analysis of these differentially expressed genes (DEGs) targeted to the plasma membrane and ATP-binding corroborated phenotypic screening results. …”
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    The antihelminth drug rafoxanide reverses chromosomal-mediated colistin-resistance in Klebsiella pneumoniae
  15. 8635
    “…R studio was used for visualization and functional analysis. RESULTS: BicC Family RNA Binding Protein 1 (BICC1) was a lymph node metastasis-related DEGs in PC patients. …”
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    Lymph node metastasis related gene BICC1 promotes tumor progression by promoting EMT and immune infiltration in pancreatic cancer
  16. 8636
    “…To identify pathways related to asthma, we conducted gene ontology functional analysis and Kyoto encyclopedia of genes and genomes pathway enrichment analysis using Metascape. …”
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    Exploring the action mechanism of Jinxin oral liquid on asthma by network pharmacology, molecular docking, and microRNA recognition
  17. 8637
    “…In addition, we carried out immune microenvironment analysis and drug sensitivity analysis. Functional analysis suggested that IRCR DEGs was mainly enriched in chromatin-related biological processes. …”
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    Seven chromatin regulators as immune cell infiltration characteristics, potential diagnostic biomarkers and drugs prediction in hepatocellular carcinoma
  18. 8638
    “…Approximately one thousand differently methylated genomic regions (DMRs) and nearby genes were called, revealing that methylation changes can be found in a large part of the genome and, therefore, referable to the physiological adaptation to training. Functional analysis via GO enrichment was also performed. …”
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    Genome-wide epigenetic modifications in sports horses during training as an adaptation phenomenon
  19. 8639
    “…This study aimed to develop a liver immune status index (LISI) that predicts low TRAIL expression and validates its ability to predict recurrence after initial hepatectomy for primary HCC. METHODS: A functional analysis of liver NK cells co‐cultured with interleukin‐2 for 3 days was performed of 40 liver transplant donors. …”
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    Impact of a new liver immune status index among patients with hepatocellular carcinoma after initial hepatectomy
  20. 8640
    “…Especially, three bacteria, namely Asaccharobacter celatus, Gemmiger formicilis, and Erysipelatoclostridium ramosum, which are rarely reported in IBD. Metagenomic functional analysis reveals that essential gene of Two-component system pathway, linked to fecal calprotectin, are implicated in IBD. …”
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    Microbiome and metabolome features in inflammatory bowel disease via multi-omics integration analyses across cohorts
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