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Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene
Published 2013-01-01“…Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene (PROC) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. …”
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1643
JUNB O‐GlcNAcylation‐Mediated Promoter Accessibility of Metabolic Genes Modulates Distinct Epithelial Lineage in Pulmonary Fibrosis
Published 2025-02-01“…This remodeling is characterized by an increase in chromatin accessibility, particularly at JUNB motif‐enriched promoter regions proximal to transcription start sites of metabolic and pro‐fibrotic genes. Mechanistically, JUNB undergoes O‐linked β‐N‐acetylglucosamine modification (O‐GlcNAcylation), a critical step in modulating pro‐fibrotic responses to chronic injury. …”
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1644
The Role of −786T/C Polymorphism in the Endothelial Nitric Oxide Synthase Gene in Males with Clinical and Biochemical Features of the Metabolic Syndrome
Published 2011-01-01“…Extensive evidence, arising from models of endothelial nitric oxide synthase gene (NOS3)-knockout mice supports the role of endothelial malfunction in the pathogenesis of the metabolic syndrome (MS). …”
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An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
Published 2025-01-01“…The current study evaluated the association of two variants through the purinergic receptor P2X7 (P2RX7) gene with the incidence of T2DM in the population of Iran. …”
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1647
Functional genomic imaging (FGI), a virtual tool for visualization of functional gene expression modules in heterogeneous tumor samples
Published 2025-01-01“…These gene modules were annotated and projected onto a t-SNE map for visualization. …”
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1648
Fructan Biosynthetic and Breakdown Enzymes in Dicots Evolved From Different Invertases. Expression of Fructan Genes Throughout Chicory Development
Published 2002-01-01“…Unlike fructan biosynthetic genes that originated from vacuolar-type invertase, fructan exohydrolases (FEHs) seem to have evolved from a cell-wall invertase ancestor gene that later obtained a low iso-electric point and a vacuolar targeting signal. …”
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1649
Bacterial Quality and Molecular Detection of Food Poisoning Virulence Genes Isolated from Nasser Lake Fish, Aswan, Egypt
Published 2024-01-01“…Additionally, PCR analysis detected the presence of aerA (60%) and Act (40%) genes in A. hydrophila, rpoB (70%) and LasB (30%) genes in P. aeruginosa, and ToxR (70%) and tdh (50%) genes in V. parahaemolyticus. …”
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Disease-associated genetic variants in the regulatory regions of human genes: mechanisms of action on transcription and genomic resources for dissecting these mechanisms
Published 2021-03-01“…The present review focuses on the molecular genetic mechanisms by which pathogenic genetic variants affect gene expression. At the same time, attention is concentrated on the transcriptional level of regulation as an initial step in the expression of any gene. …”
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1651
Genetic Transformability of Selected Kenyan Groundnut (Arachis hypogaea L.) Genotypes with IPT Gene Using Cotyledonary Node Explants
Published 2022-01-01“…The vector also contained the phosphomannose isomerase (PMI) gene for the selection of transformed tissues. Putative transformants were tested for the presence of the transgene by PCR designed to amplify the IPT gene sequence. …”
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Investigating DNA Methylation of Solute Carrier Genes in Colorectal Cancer: A Comprehensive Analysis Using Microarray and Bioinformatics Tools
Published 2023-12-01“…The molecular mechanisms underlying CRC, especially DNA methylation patterns in solute carrier (SLC) genes, have gained attention due to their potential role in CRC initiation and progression. …”
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Expression of Intratumoral IGF-II Is Regulated by the Gene Imprinting Status in Triple Negative Breast Cancer from Vietnamese Patients
Published 2015-01-01“…Tumors with biallelic IGF-II gene expression exhibited the highest levels of proIGF-II and Survivin. …”
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Exposure to Early Life Stress Results in Epigenetic Changes in Neurotrophic Factor Gene Expression in a Parkinsonian Rat Model
Published 2016-01-01“…Further to this, we found higher DNA methylation and decreased neurotrophic factor gene expression. 6-OHDA lesion increased neurotrophic factor gene expression in both stressed and nonstressed rats but this increase was higher in the nonstressed rats. …”
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Integrated Transcriptomic and Targeted Metabolomic Analysis Reveals the Key Genes Involved in Triterpenoid Biosynthesis of <i>Ganoderma lucidum</i>
Published 2025-01-01“…A transcriptomics analysis showed that there were 371 DEGs in the P_vs_FM group, including 171 down-regulated genes and 200 up-regulated genes. In the FM_vs_FP group, 2567 DEGs were identified, with 1278 down-regulated genes and 1289 up-regulated genes. …”
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Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population
Published 2020-01-01“…The heterozygous genotype TC (rs1883832) of CD40 gene was more common in the control subjects, and the frequency of the alleles and genotypes in the rs1748033 of the PADI4 gene did not differ between the studied groups. …”
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Expression Characterization of Six Genes Possibly Involved in Gonad Development for Stellate Sturgeon Individuals (Acipenser stellatus, Pallas 1771)
Published 2018-01-01“…We analysed the gene expression of the selected genes for gonads, anal fin, liver, body kidney, and white muscle. …”
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