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Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient
Published 2025-02-01“…Consequently, the patient underwent laparoscopic right adrenalectomy, confirming the PCC diagnosis.Genetic studies1) Germline PPGL multigene panel: After consent, the patient underwent a panel of 14 susceptibility genes for PPGLs that revealed no pathogenic variants. 2) Somatic genetic analysis for EPAS1 gene found no variants. However, tumoral RNA sequencing unveiled activation of the HIF pathway.ConclusionWe describe a rare case of PCC in a pulmonary transplant recipient, with genetic analyses showing no germline pathogenic variants and no somatic variants in the EPAS1 gene. …”
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322
Current data on the circulation of the Q fever pathogen in the Republic of Guinea
Published 2024-11-01“…The study was carried out using ELISA and PCR methods, selected samples were subjected to in-depth genetic analysis. Results and discussion. The study of the distribution of C. burnetii on the territory of all landscape-geographical zones of the Republic of Guinea was carried out. …”
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323
Assessment of various etiological factors for oral squamous cell carcinoma in non-habit patients- a cross sectional case control study
Published 2025-01-01“…Results Firstly, we found 3 novel pathogenic mutations c.16C > A/p.L6M (missense mutation), c.359 T > C/p.L120P (point mutation), c.382C > T/p.R128W (missense mutation) of HRAS gene in NHOSCC samples by genetic analysis. No significant difference was noted in the total bacterial count between the non-habit associated and habit associated oral squamous cell carcinoma (HOSCC). …”
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324
Leveraging genomic insights from the neglected malaria parasites P. malariae and P. ovale using selective whole genome amplification (SWGA) approach
Published 2025-02-01“…Abstract Background Systematic genomics-guided population-based studies on the neglected malaria parasites, P. malariae, P. ovale curtisi, and P. ovale wallikeri species remain challenging due to their low parasitemia, underestimation, and lack of comprehensive genetic analysis. Techniques that cost-effectively allow the enriching of the genome of interest from complex genome backgrounds for sequencing studies help immensely to perform genomic analyses. …”
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325
Determining the Heterotic Groups of Selected Grain Maize (Zea mays L.) Inbred Lines using Morphological and Phenological Traits
Published 2024-11-01“…The yield range of the early group differed from 1.01 to 2.74 tons per hectare, the medium group from 1.18 to 3.09 tons per hectare (except for the medium ripening group containing the line KE77008/1 with a performance of 4.70 tons per hectare), and the late group from 1.21 to 3.28 tons per hectare. In genetic analysis, the low difference between the percentage of phenotypic and genotypic coefficients of variation of the traits showed less effects of environmental factors on these traits. …”
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326
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights
Published 2025-01-01“…Clinical findings, combined with genetic analysis, confirmed the diagnosis of HS and underscored the importance of comprehensive molecular testing for accurate diagnosis, especially in patients with a strong family history.ConclusionThis case emphasizes the utility of genetic testing in diagnosing hereditary spherocytosis, particularly for novel gene mutations. …”
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327
Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer
Published 2025-01-01“…Methods: Twenty-four patients with MBC underwent a multistep genetic analysis. Initial screening targeted BRCA1/2 variants followed by GS to identify pathogenic/likely pathogenic germline variants through a 3-tiered classification. …”
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328
VARIABILITY STRUCTURE AND GENETIC DETERMINATION OF PLANT PHENOLOGICAL TYPE (ACCORDING TO RESULTS OF TOBACCO RESEARCH)
Published 2015-01-01“…The objectives of the study were the detection of phenological traits essential for the evaluation of genetically determined differences in phenological type in tobacco and investigation of their genetics. Analysis of the variation pattern of the phenological trait complex in a tobacco variety collection showed no difference in the genetic determination between the vegetative and generative periods of tobacco plant development. …”
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329
The finding of black currants from sect. <i>Eucoreosma</i> (Grossulariaceae) in the central part of southern Primorsky Territory, Russia
Published 2024-10-01“…Results and conclusion. A molecular genetics analysis of two chloroplast DNA fragments excluded any association of the discovered plants with R. nigrum or R. fontaneum. …”
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330
Exploring the Relationship Between Growth Hormone Secretagogue Receptor (GHSR) Gene and Body Proportions in Bangkok Chickens: Insights from DNA Sequencing and Hin6I Enzyme-Restrict...
Published 2024-04-01“…Single nucleotide polymorphism (SNP) identification using the Molecular Evolutionary Genetics Analysis 7 program with reference number AB095994.1. …”
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331
Genotypic Profiling of Bacillus cereus Recovered from Some Retail Foods in Ogun State, Nigeria, and Their Phylogenetic Relationship
Published 2020-01-01“…The evolutionary tree was drawn using the Molecular Evolutionary Genetics Analysis (MEGA 6) software. The dendrogram generated for the RAPD profile showed that all the strains are closely related, with a similarity coefficient of 70%. …”
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332
Mangrove plants using deoxyribonucleic acid barcodes for enhancing biodiversity and conservation
Published 2024-07-01“…The Tamura 3-parameter + Gamma method in molecular evolutionary genetics analysis X software was used to measure and describe the genetic distances between different species and within the same species. …”
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333
Marker-assisted selection in the development of advanced apple-tree forms and donors combining scab resistance with increased fruit storability
Published 2023-10-01“…The results of the phenotypic resistance assessment confirmed the correspondence of the resistant phenotype / dominant allele of the gene for most plants. Molecular genetics analysis of the Md-ACS1 gene disclosed its allelic combinations. …”
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334
Molecular prevalence and associated risk factors of Entamoeba spp. in donkeys in Shanxi Province, North China
Published 2025-02-01“…The phylogenetic relationship of Entamoeba spp. was reconstructed using the neighbor-joining (NJ) method in Molecular Evolutionary Genetics Analysis (Mega) 7.0 software. Results The overall prevalence of Entamoeba spp. in donkeys in Shanxi Province was 7.12% (58/815). …”
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335
Analyzing cellulolytic bacteria diversity in mangrove ecosystem soil using 16 svedberg ribosomal ribonucleic acid gene
Published 2024-01-01“…Phylogenetic analysis and genetic distance between species were evaluated using molecular evolutionary genetics analysis.FINDINGS: Thirteen isolates were sequenced, and nine species of cellulolytic bacteria dominated by the Bacillus genus were identified. …”
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336
Wild grasses as the reservoirs of infection of rust species for winter soft wheat in the Northern CaucasusWild grasses as the reservoirs of infection of rust species for winter sof...
Published 2021-10-01“…Monopustular Puccinia spp. isolates were used for virulence genetics analysis. In experiments to study the specialization of rust species from wild-growing cereals on common wheat, 12 winter cultivars were used (Grom, Tanya, Yuka, Tabor, Bezostaya 100, Yubileynaya 100, Vekha, Vassa, Alekseich, Stan, Gurt, Bagrat). …”
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