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Identifying disulfidptosis-related biomarkers in epilepsy based on integrated bioinformatics and experimental analyses
Published 2025-02-01“…The optimal machine learning model was revealed to be the random forest (RF) model. G protein guanine nucleotide-binding protein alpha subunit q (GNAQ) was linked to sodium valproate resistance. …”
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1322
Potential pathogenic and protective genotypes and phenotypes of vitamin D binding protein in multiple sclerosis
Published 2025-02-01“…BackgroundThe main carrier protein of vitamin D and its metabolites in plasma is vitamin D binding protein (VDBP) or group-specific component (Gc). Two single nucleotide polymorphisms, rs7041, and rs4588 in the GC gene result in three major VDBP/Gc genotypes, GC1F (c.1296T, c.1307C), GC1S (c.1296G, c.1307C), GC2 (c.1296T, c.1307A), and phenotypes, Gc1F (p.432Asp, p.436Thr), Gc1S (p.432Glu, p.436Thr), and Gc2 (p.432Asp, p.436Lys). …”
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1323
Genetic Variation Analysis of Hsp101 Gene in Common Wild Rice and Asian Cultivated Rice Germplasm Resources
Published 2024-11-01“…【Methods】The rice germplasm resources of 3 325 genome sequencing data were obtained through retrieval and collation, and single nucleotide polymorphism (SNP) and small fragment insertion and deletion (InDel) variations were revealed by genome resequencing data analysis. …”
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1324
Identification of Genetic Markers of <i>APOM</i> and <i>CYP7A1</i> Genes Affecting Milk Production Traits in Chinese Holstein
Published 2024-12-01“…By dual-direction sequencing of the polymerase chain reaction (PCR) products of the complete coding sequences and 2000 bp of the 5′ and 3′ flanking regions on pooled DNA sample, seven and three single nucleotide polymorphisms (SNPs) were identified in <i>APOM</i> and <i>CYP7A1</i>, respectively. …”
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1325
Comprehensive genomic surveillance reveals transmission profiles of extensively drug-resistant tuberculosis cases in Pará, Brazil
Published 2025-01-01“…Cutoffs of 5–12 single nucleotide polymorphisms (SNPs) were used for transmission analysis. …”
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1326
Plasmodium falciparum transcription factor AP2-06B is mutated at high frequency in Southeast Asia but does not associate with drug resistance
Published 2025-01-01“…Here we screened for single nucleotide polymorphisms (SNPs) within the AP2 family and identified 6 non-synonymous mutations within AP2-06B (PF3D7_0613800), with allele frequencies greater than 0.05. …”
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1327
Genomic characteristics of ST6115 carbapenem-resistant Klebsiella pneumoniae coharboring blaNDM-1 and blaIMP-4
Published 2025-02-01“…Additionally, HD8428 showed particularly close genetic similarity to HD11490, with a single-nucleotide polymorphism (SNP) difference of only 273. …”
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1328
Diversity and Functional Insights into Endophytic Fungi in Halophytes from West Ordos Desert Ecosystems
Published 2025-01-01“…Functional predictions indicated that endophytic fungi play important roles in metabolic pathways such as nucleotide biosynthesis, carbohydrate degradation, and lipid metabolism, which may enhance plant survival in saline–alkaline and arid environments. …”
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1329
Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Cont...
Published 2025-01-01“…Methods A genome-wide association study (GWAS) was performed, comparing 543 HIV-1 EC individuals with 3,272 uninfected controls (CTR) of European ancestry. 8 million single nucleotide polymorphisms (SNPs) and HLA class I and class II gene alleles were imputed to compare EC and CTR. …”
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1330
Emergence and clonal dissemination of KPC-2- and NDM-1-coharboring Citrobacter freundii in China with an IncR plasmid
Published 2025-02-01“…Genotyping and comparative genomics analyses identified the eight KPC-2-NDM-1- C. freundii belonging to ST523, exhibiting a close relationship characterized by 45 single nucleotide polymorphisms. Whole-genome sequencing and plasmid analysis confirmed the presence of blaKPC-2 and blaNDM-1 on an IncR plasmid named pC275-2 with 46,050 bp. …”
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1331
Comparative Genomics Reveals Evidence of the Genome Reduction and Metabolic Potentials of <i>Aliineobacillus hadale</i> Isolated from Challenger Deep Sediment of the Mariana Trench
Published 2025-01-01“…The highest average nucleotide identity (ANI), the highest digital DNA-DNA hybridization (DDH) values, and the average amino acid identity (AAI) with <i>Neobacillus</i> sp. …”
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1332
A Mendelian randomization study of depression and risk of cervical cancer (抑郁和宫颈癌发病风险相关的孟德尔随机化分析)
Published 2023-11-01“…Methods Based on Genome Wide Association Study(GWAS) data, single nucleotide polymorphism(SNP) associated with depression were selected as genetic instrumental variables. …”
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1333
Whole-genome resequencing landscape of adaptive evolution in Relict gull (Larus relictus)
Published 2025-01-01“…Population genetic diversity analysis revealed that low nucleotide diversity (0.00029) and no obvious population structure in L. relictus. …”
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1334
Genome-wide association mapping of biochemical traits and its correlation with MYMIV resistance in mungbean (Vigna radiata L. Wilczek)
Published 2024-12-01“…Genome-wide association studies (GWAS) of 132 genotypes have identified 31,953 single nucleotide polymorphism (SNPs). MLM (Mixed Linear Model) and BLINK (Bayesian-information and Linkage-disequilibrium Iteratively Nested Keyway) models have identified 119 shared SNPs for various biochemical traits and MYMIV resistance. …”
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1335
Impact of donor CYP3A5 genotype on pharmacokinetics of tacrolimus in South African paediatric liver transplant patients
Published 2024-04-01“…Pharmacogenetic research, although not representative of SA population groups, suggests that single-nucleotide polymorphisms within the cytochrome P450 3A5 (CYP3A5) gene contribute to the variability in tacrolimus dosing requirements. …”
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1336
Genome analysis of colistin-resistant Salmonella isolates from human sources in Guizhou of southwestern China, 2019–2023
Published 2025-01-01“…Among the 42 CL-R isolates lacking markers for CL-R, 12 single-nucleotide variations (SNVs) were observed in 24 isolates using genome-wide association study (GWAS) analysis, which was possibly associated with colistin resistance.ConclusionThis study revealed that the majority of CL-R Salmonella isolates in Guizhou province exhibited MDR, with complex resistance mechanisms, representing a significant public health challenge. …”
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1337
Association between METTL14 gene polymorphisms and risk of ovarian endometriosis
Published 2025-01-01“…The possibility that single nucleotide polymorphisms (SNPs) in the METTL14 gene contribute to susceptibility of endometriosis has not been thoroughly investigated.MethodsWe assessed the genotype frequencies of five potential functional METTL14 SNPs (rs298982 G>A, rs62328061A>G, rs9884978G>A, rs4834698C>T, and rs1064034A>T) in a Chinese population consisting of 458 patients with ovarian endometriosis and 462 healthy controls. …”
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1338
Genetic evidence for the causal effects of air pollution on the risk of respiratory diseases
Published 2025-01-01“…The primary analytical method was inverse variance weighting (IVW), which explored the exposure-outcome relationship using single nucleotide polymorphisms (SNPs) associated with air pollution. …”
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Molecular mapping and validation of quantitative trait loci for content of micronutrients in wheat grain
Published 2025-01-01“…A recombinant inbred lines (RIL) population derived from Yangmai 4/Yanzhan 1 (YM4/YZ1) with wheat 55K single nucleotide polymorphism (SNP) arrays and micronutrient content of two environments was used to construct a genetic linkage map and dissect the quantitative trait loci (QTL) for the content of Mn, Fe, Cu, Zn, and Se in wheat. …”
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Virological Aspects of COVID-19 in Patients with Hematological Malignancies: Duration of Viral Shedding and Genetic Analysis
Published 2024-12-01“…Three types of mutations were detected; the most frequent were nucleotide substitutions in the spike (S) gene. No statistically significant difference was observed between the two groups as to the type and mean number of observed mutations in the whole genome and the S region (<i>p</i> = 0.650). …”
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