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13261
NTRK amplification occurs frequently in pan-TRK immunopositive dedifferentiated liposarcomas
Published 2025-01-01“…Though it is well known that pan-TRK immunopositivity is usually not connected to NTRK fusion, the role of other possible genetic alterations is under-researched. In our previous work, we found 3 NTRK1 amplified cases out of 6 cases with recurrent NTRK1 tyrosine kinase domain mutation pair, so we extended our investigation to a larger series to estimate amplification frequency. …”
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13262
Periodontal diseases in Down syndrome during childhood: a scoping review
Published 2025-01-01“…Abstract Background Down syndrome (DS) is a genetic condition that involves the deregulation of immune function and is characterized by a proinflammatory phenotype leading to an impaired response to infections. …”
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13263
Productivity of selection numbers of perennial ryegrass (Lolium perenne L.) in the nursery of competitive variety testing
Published 2025-01-01“…The selection of breeding material and phenological observations were performed following the “Methodology for breeding perennial legumes and cereals in the Carpathian region” (2015) and “Formation and conservation of genetic diversity of forage and lawn grasses in the Carpathian region” (2015). …”
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13264
Validating a clinically based MS-MLPA threshold through comparison with Sanger sequencing in glioblastoma patients
Published 2025-01-01“…Results A cohort of 108 patients with histologically and genetically defined glioblastoma was retrospectively examined with methylation-specific Sanger sequencing (sSeq) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methods. …”
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13265
Genomic insights on cgMLST markers, drug resistance, and urease cluster of Proteus mirabilis strains
Published 2025-01-01“…Additionally, an attempt was made to construct a core genome multilocus sequence typing scheme specific to this species in order to enhance the precision of describing genetic diversity and evolutionary relationships. …”
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13266
Multidrug-resistant ESBL E. coli in urban surface waters and public health implications: A Case Study from Goranchatbari, Dhaka
Published 2025-02-01“…Isolates of ESBL E. coli underwent analysis for the major ESBL and pathogenic genes, antibiotic susceptibility, biofilm formation, and genetic diversity. However, the existence of E. coli was confirmed in every sample. …”
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13267
Single-cell immunopathology of recurrent acute generalized exanthematous pustulosis associated with vancomycin
Published 2025-05-01“…Objective: To better understand the genetic risk factors and single-cell immunopathogenesis of AGEP, we longitudinally characterized a patient with recurrent AGEP after an initial episode triggered by vancomycin. …”
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13268
Cytokine Profile in Early Infection by Leptospira interrogans in A/J Mice
Published 2019-01-01“…Our results showed that in A/J genetic background, the Complement component C5 modulates a cytokine profile in the liver and kidney of infected mice, which may play a role in the control of disease progression.…”
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13269
Codon usage patterns and genomic variation analysis of chloroplast genomes provides new insights into the evolution of Aroideae
Published 2025-02-01“…Our research could provide a theoretical foundation for the chloroplast genetic engineering, taxonomy, and phylogenetic relationships of Aroideae chloroplasts.…”
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13270
Comparative Analysis of Seventeen Mitochondrial Genomes of Mileewinae Leafhoppers, Including the Unique Species Mileewa digitata (Hemiptera: Cicadellidae: Mileewinae) From Xizang,...
Published 2025-01-01“…Analyses of nucleotide diversity and evolutionary rates indicate purifying selection on PCGs, with atp8 exhibiting the greatest variability and evolutionary rate, whereas cox1 shows the least. Genetic distance studies display minimal separation among Mileewa species, specifically Mileewa nii with Mileewa margheritae and Mileewa rufivena with Mileewa ussurica, as well as the two morphs of Mileewa digitata. …”
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13271
Tissue-specific roles of de novo DNA methyltransferases
Published 2025-01-01“…DNMT3A and DNMT3B establish novel methylation patterns maintained by DNMT1 during replication. Genetic variants of DNMT3A and DNMT3B cause rare diseases such as Tatton-Brown-Rahman and ICF syndromes. …”
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13272
CD40 Ligand Potentiates Immunogenecity of <i>Mycoplasma pneumoniae</i> Subunit Vaccine Candidate in a Murine Model
Published 2025-01-01“…In this study, the CD40L peptide was fused to the C-terminus of the chimeric P97R1P46P42 protein by genetic engineering using the pFastBac Dual vector. …”
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13273
LTA4H rs2660845 association with montelukast response in early and late-onset asthma.
Published 2021-01-01“…Our study demonstrates that genetic variation in LTA4H, together with timing of asthma onset, may contribute to variability in montelukast response. …”
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13274
Surveillance of tick-borne encephalitis virus foci in Slovakia: A seroprevalence study in ruminants combined with virus detection in ticks
Published 2025-01-01“…Obtained full-length genome sequences revealed high genetic diversity and phylogenetic clustering with virus strains found across Europe. …”
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13275
A scalable tool for analyzing genomic variants of humans using knowledge graphs and graph machine learning
Published 2025-01-01“…VariantKG extracts variant-level genetic information output by a variant calling pipeline, annotates the variant data with additional metadata, and converts the annotated variant information into a KG represented using the Resource Description Framework (RDF). …”
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13276
Physical activities and breast cancer: a Mendelian randomization study
Published 2024-11-01“…Two-sample MR analysis revealed a genetic prediction indicating that walking for pleasure was associated with decreased risk of ER+ BC (odds ratio (OR) = 0.302, 95% CI = 0.105–0.872, p = 0.027), while other physical activities were not significantly correlated with BC, ER+ BC and ER– BC. …”
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13277
Distribution of Tunisian beet wild relatives (Beta sp.) according to morphological characteristics and eco-geographical origin
Published 2025-01-01“…Climate change poses a significant threat to genetic reservoir in Tunisia. We evaluated the morphological diversity of ten populations of B. vulgaris subsp. maritima and five populations of B. macrocarpa growing in different Tunisian bioclimatic and ecological areas using a set of 9 quantitative and 14 qualitative traits to promote the preservation and exploration of this germplasm. …”
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13278
Rare Taxa Are Key Links in Regional Antimicrobial Resistance Profiles in Dusts Across Diverse North American Regions
Published 2024-11-01“…High‐throughput qPCR was used to detect and quantify a panel of 36 ARGs and 3 mobile genetic elements. Bacterial biomass was assessed using standard qPCR methods of the 16S rRNA gene, which was also used to assess bacterial biodiversity via metabarcoding. …”
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13279
Evaluating the Association Between Methylenetetrahydrofolate Reductase (Rs1801131 and Rs1801133) Gene Polymorphisms and Severity of Coronary Lesions in Patients With STEMI and NSTE...
Published 2025-01-01“…While rs1801131 showed no correlation, rs1801133 may serve as a valuable genetic biomarker for assessing CAD severity. Further research with larger populations is needed to confirm these findings.…”
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13280
Emergence of Carbapenem-Resistant <i>bla</i><sub>POM-1</sub> Harboring <i>Pseudomonas otitidis</i> Isolated from River Water in Ghana
Published 2025-01-01“…<b>Results:</b> The strains carried <i>bla</i><sub>POM-1</sub> on the chromosome, with only Tg_9B showing intermediate resistance to meropenem. Tg_9B had a unique genetic make-up downstream of <i>bla</i><sub>POM-1</sub>, compared with BC12 and other reference strains. …”
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