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28461
Phage resistance formation and fitness costs of hypervirulent Klebsiella pneumoniae mediated by K2 capsule-specific phage and the corresponding mechanisms
Published 2023-07-01“…WGS revealed single nucleotide polymorphism (SNP) in genes encoding RfaH, galU, sugar glycosyltransferase, and polysaccharide deacetylase family protein in the mutants. …”
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28462
Key <i>FAD2</i>, <i>FAD3</i>, and <i>SAD</i> Genes Involved in the Fatty Acid Synthesis in Flax Identified Based on Genomic and Transcriptomic Data
Published 2023-10-01“…In most cases, two genes from a pair differed by a significant number of gene-specific SNPs (single nucleotide polymorphisms) or even InDels (insertions/deletions), except for <i>FAD2a-1</i> and <i>FAD2a-2</i>, where only seven SNPs distinguished these genes. …”
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28463
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
Published 2016-08-01“…Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs) in association with breast cancer risk at p < 0.05; for 16 of them, the allele associated with elevated BMI was associated with reduced breast cancer risk.…”
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28464
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
Published 2022-08-01“…The first-line strategy is to identify possible pathogenic SNVs (single nucleotide variants) using multiple PCR, Sanger sequencing, or with more comprehensive approaches, such as NGS (next-generation sequencing), WES (whole-exome sequencing) or WGS (whole-genome sequencing). …”
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28465
First Report of <i>Bartonella</i> spp. in Marsupials from Brazil, with a Description of <i>Bartonella harrusi</i> sp. nov. and a New Proposal for the Taxonomic Reclassification of...
Published 2022-08-01“…In addition, this strain exhibited an average nucleotide identity (ANI) of 85% with <i>Bartonella</i> species belonging to the <i>B. vinsonii</i> group and 91% with <i>B. machadoae</i>. …”
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28466
8q Gain Has No Additional Predictive Value in SF3B1MUT Uveal Melanoma but Is Predictive for a Worse Prognosis in Patients with BAP1MUT Uveal Melanoma
Published 2024-03-01“…Copy number status and gene expression were assessed using either a single nucleotide polymorphism array, fluorescence in situ hybridization, and karyotyping, or a combination of these techniques. …”
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28467
An exploration of the correlations between seven psychiatric disorders and the risks of breast cancer, breast benign tumors and breast inflammatory diseases: Mendelian randomizatio...
Published 2023-06-01“…This study aims to investigate if mental disorders influence the risks of overall breast cancer, the two subtypes of breast cancer (ER+ and ER-), breast benign tumors and breast inflammatory diseases.MethodsDuring our research, genome-wide association study (GWAS) data for seven psychiatric disorders (schizophrenia, major depressive disorder, bipolar disorder, post-traumatic stress disorder, panic disorder, obsessive-compulsive disorder and anorexia nervosa) from the Psychiatric Genomics Consortium (PGC) and the UK Biobank were selected, and single-nucleotide polymorphisms (SNPs) significantly linked to these mental disorders were identified as instrumental variables. …”
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28468
SLC44A2 Frequency, a New TaqMan Real-Time Polymerase Chain Reaction Method for HNA-3A/3B Genotyping, and a New Application of Droplet Digital PCR
Published 2022-05-01“…Background: Human neutrophil antigen-3A (HNA-3A) and human neutrophil antigen-3B (HNA-3B) are generated by a single-nucleotide polymorphism (rs2288904, c.461G > A) in exon 7 of the choline transporter-like protein-2 gene (CTL2, also known as SLC44A2). …”
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28469
XBP1-mediated activation of the STING signalling pathway in macrophages contributes to liver fibrosis progression
Published 2022-11-01“…X-box binding protein 1 (XBP1) has been shown to promote macrophage nucleotide-binding oligomerization domain, leucine-rich repeat and pyrin domain-containing 3 (NLRP3) activation in steatohepatitis. …”
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28470
Screening of Indica-Japonica Specific Molecular Markers and Establishment of Discrimination System
Published 2022-09-01“…Molecular markers designed based on nucleotide sequence differences between indica rice and japonica rice have been widely used to discriminate indica-japonica in rice. …”
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28471
Interleukin Variants Are Associated with the Development and Progression of IgA Nephropathy: A Candidate-Gene Association Study and Meta-Analysis
Published 2023-11-01“…Genotypes were assessed for two promoter-region single-nucleotide polymorphisms, C-899T (rs1800587) in <i>IL1A</i> and C-511T (rs16944) in <i>IL1B</i>, and for one penta-allelic variable-length tandem repeat polymorphism (VNTR 86 bp intron 2) in <i>IL1RN</i>. …”
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28472
Outbreak of Klebsiella pneumoniae ST11 Resistant To Ceftazidime-Avibactam Producing KPC-31 and the Novel Variant KPC-115 during COVID-19 Pandemic in Argentina
Published 2022-12-01“…Based on whole-genome sequencing results of selected isolates, less than 7 single-nucleotide polymorphisms were identified among them, which was indicative of the presence of a unique clone. …”
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28473
Molecular epidemiology and genomic dynamics of Pseudomonas aeruginosa isolates causing relapse infections
Published 2023-10-01“…Fast adaptation and evolution of P. aeruginosa isolates were reflected by dynamic changes of antimicrobial resistance, gene loss and acquisition, and single-nucleotide polymorphisms during relapse episodes. Remarkably, a convergent non-synonymous mutation that occurs in a pyochelin-associated virulence gene fptA (T1056C, M252T) could be a considerable target for the diagnosis and treatment of relapse P. aeruginosa infection. …”
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28474
3p Arm Loss and Survival in Head and Neck Cancer: An Analysis of TCGA Dataset
Published 2021-10-01“…We downloaded the clinical, single nucleotide variation (SNV), copy number aberration (CNA), RNA sequencing, and reverse phase protein assay (RPPA) data from The Cancer Genome Atlas (TCGA) and The Cancer Proteome Atlas HNSCC cohorts. …”
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28475
Brevundimonas brasiliensis sp. nov.: a New Multidrug-Resistant Species Isolated from a Patient in Brazil
Published 2023-06-01“…Multilocus sequence analysis, Type (Strain) Genome Server, digital DNA-DNA hybridization, and average nucleotide identity confirmed that the Brevundimonas sp. studied represents a distinct species, for which we propose the name Brevundimonas brasiliensis sp. nov. …”
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28476
Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study
Published 2023-06-01“…In this study, we assessed the clinical potential of using whole-genome sequencing (WGS) of lymphomas at diagnosis to identify patient-specific structural (SVs) and single nucleotide variants (SNVs) to enable longitudinal, multi-targeted droplet digital PCR analysis (ddPCR) of cell-free DNA (cfDNA).MethodsIn 9 patients with B-cell lymphoma (diffuse large B-cell lymphoma and follicular lymphoma), comprehensive genomic profiling at diagnosis was performed by 30X WGS of paired tumor and normal specimens. …”
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28477
The protective effects of Levilactobacillus brevis FZU0713 on lipid metabolism and intestinal microbiota in hyperlipidemic rats
Published 2023-09-01“…Furthermore, liver metabolomics analysis demonstrated that L. brevis FZU0713 had a significant regulatory effect on the composition of liver metabolites in hyperlipidemic rats, especially the levels of some important biomarkers involved in the metabolic pathways of arachidonic acid metabolism, primary bile acid biosynthesis, amino sugar and nucleotide sugar metabolism, taurine and hypotaurine metabolism, biosynthesis of unsaturated fatty acid, fructose and mannose metabolism, tyrosine metabolism, etc. …”
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28478
Arachidonic acid activates NLRP3 inflammasome in MDSCs via FATP2 to promote post-transplant tumour recurrence in steatotic liver grafts
Published 2023-12-01“…Methods: MDSC populations and nucleotide-binding oligomerisation domain-like receptor family pyrin domain containing 3 (NLRP3) inflammasome levels were investigated in a clinical cohort and a rat liver transplantation model. …”
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28479
RNA-Seq Transcriptome Analysis and Evolution of <i>OsEBS</i>, a Gene Involved in Enhanced Spikelet Number per Panicle in Rice
Published 2023-06-01“…<i>Indica</i> (<i>XI</i>) subspecies harbored higher nucleotide diversity than <i>japonica</i> (<i>GJ</i>) subspecies in the <i>OsEBS</i> region, and <i>XI</i> experienced strong balancing selection during evolution, while selection in <i>GJ</i> was neutral. …”
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28480
Steady Decline of HBV DNA Load under NAs in Lymphoma Patients and a Higher Level of qAnti-HBc Predict HBV Reactivation
Published 2023-12-01“…<b>Background:</b> Patients with lymphoma and chronic hepatitis B virus infection need to be treated with both chemotherapy and nucleotide analogue (NA) therapy. However, dynamic changes in HBV DNA loads with increasing chemotherapy cycles are lacking. …”
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