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2461
Identification of Mutations that Encode Drug Resistance in the Polymerase Gene of the Human Immunodeficiency Virus
Published 1994-01-01“…Direct cloning and sequencing revealed the site 65 mutation in viruses isolated from patients on prolonged ddC therapy.…”
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2462
Molecular Detection of Candida tropicalis Isolated from Immunocompromised Patients with Otitis Media
Published 2025-01-01“…Cultural methods including (Sabouraud's dextrose agar medium (SDA) and Hi-Chrom Candida agar) media with incubating at 37°C for 48 h, and Molecular methods (Conventional PCR and gene sequencing) for ITS and Als2 genes were used for identification of C. tropicalis . …”
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2463
Mechanisms of T-cell Depletion in Tumors and Advances in Clinical Research
Published 2025-02-01“…It highlighted the need for in-depth studies on key issues such as indications, dosage, and sequencing of combined therapeutic strategies tailored to different patients and tumor types, providing practical guidance for individualized treatment. …”
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2464
Integrating Data Mining, Deep Learning, and Gene Ontology Analysis for Gene Expression-Based Disease Diagnosis Systems
Published 2025-01-01“…The manuscript details the outcomes of a comprehensive study on the application of cluster-bicluster analysis, gene ontology analysis, and convolutional neural network (CNN) for diagnosing cancer and Alzheimer’s disease using gene expression data derived from both DNA microarray experiments and mRNA sequencing. It outlines a conceptual framework and provides a block diagram of the stepwise procedure for analyzing gene expression data, aiming to enhance the accuracy and objectivity of disease diagnosis. …”
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2465
Coexistence of Asymptomatic Allergic Bronchopulmonary Aspergillosis and Active Pulmonary Tuberculosis: Case Report
Published 2025-01-01“…Active tuberculosis was initially confirmed using specialized detection methods, including metagenomic next-generation sequencing and Xpert MTB/RIF analysis of bronchoalveolar lavage fluid. …”
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2466
Development of a New Marker System for Identification of Spirodela polyrhiza and Landoltia punctata
Published 2017-01-01“…The high-resolution capillary electrophoresis displayed high identity to the sequencing results. The combination of the PCR products containing several DNA fragments highly improved the identification frequency. …”
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2467
Telomerase RNA structural heterogeneity in living human cells detected by DMS-MaPseq
Published 2025-01-01“…Here, we probe hTR structure in living cells using dimethyl sulfate mutational profiling with sequencing (DMS-MaPseq) and ensemble deconvolution analysis. …”
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2468
Analysis of the low density lipoprotein receptor gene (<i>LDLR</i>) mutation spectrum in Russian familial hypercholesterolemia
Published 2022-06-01“…Poland, the Czech Republic, Italy and the Netherlands share the highest number of mutations with the Russian population. Target sequencing significantly accelerates the characterization of mutation spectra in FH, but due to the absence of systematic investigations in the regions, one may suggest that most of LDLR mutations in the Russian population have not been described yet.…”
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2469
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
Published 2020-01-01“…PCR amplification and sequencing were performed for three patients. Structural analysis, modeling, and interactome analysis were applied to characterize novel MC2R variants and their proteins. …”
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2470
Characterization of Chromatin Structure-associated Histone Modifications in Breast Cancer Cells
Published 2012-09-01“…We also identified functional sequence motifs at H3K4me1-enriched FAIRE sites upstream of putative promoters, suggesting that regulatory elements could be associated with H3K4me1 to be regarded as distal regulatory elements. …”
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2471
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report
Published 2025-01-01“…Genetic analysis revealed heterozygous variants in the TRPV3 gene using whole-exome sequencing of case-parents’ trios. This mutation was not identified in his mother. …”
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2472
Improving the quality of barley transcriptome <i>de novo</i> assembling by using a hybrid approach for lines with varying spike and stem coloration
Published 2021-03-01“…It allows the researchers to obtain the sequences of transcripts presented in the biological sample of interest. …”
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2473
DNA Barcoding Reveals Widespread Co-Occurrence of Other Chub Species in the Range of the Endemic Catalan Chub, <i>Squalius laietanus</i>
Published 2025-01-01“…In this study, 246 chub specimens caught at 15 sites in the nine main river basins of the Spanish range were barcoded by sequencing a 624 bp fragment of the mitochondrial COI gene. …”
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2474
Bithyniid snails (Gastropoda: Bithyniidae) infected with Xiphidiocercariae in Thailand include a new record of Bithynia siamensis siamensis as the intermediate host of Plagiorchis...
Published 2025-01-01“…The mitochondrial COI and 16S rDNA sequences of bithyniid snails, along with the ITS2 sequences of cercariae, were obtained via PCR amplification and sequencing. …”
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2475
Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report
Published 2024-12-01“…We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome sequencing was undertaken to pinpoint the underlying genetic mutation. …”
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2476
The urinary microbiome in association with diabetes and diabetic kidney disease: A systematic review.
Published 2025-01-01“…In total, the urobiome of 1,571 people was sequenced, of which 662 people had diabetes, and of these 36 had confirmed diabetic kidney disease; 609 were healthy individuals, 179 had prediabetes or were at risk of type 2 diabetes mellitus and 121 did not have diabetes but had other comorbidities. …”
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2477
Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager
Published 2020-01-01“…The importance of clinical suspicion is emphasized in order to confirm the diagnosis by IRAK4 gene sequencing and provide the appropriate treatment for this rare primary immunodeficiency, as soon as possible.…”
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2478
Alpinia oxyphylla Miq. Extract Prevents Diabetes in Mice by Modulating Gut Microbiota
Published 2018-01-01“…Comparisons of fecal bacterial communities were performed between db-/db- mice and normal mice (DB/DB) and between the db-/db mice treated and untreated with AOE using next-generation sequencing technology. Our results showed that the db-/db-AOE group had improved glycemic control and renal function compared with the db-/db-H2O group. …”
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2479
Modeling bacterial interactions uncovers the importance of outliers in the coastal lignin-degrading consortium
Published 2025-01-01“…Here, we develop a coastal lignin-degrading bacterial consortium (LD), through “top-down” enrichment. Sequencing and physiological analyses reveal that LD is dominated by the lignin degrader Pluralibacter gergoviae (>98%), with additional rare non-degraders. …”
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2480
Unveiling the prenatal features of HADDS: A case report and literature review
Published 2025-01-01“…HADDS was diagnosed by Whole Exome Sequencing on a family trio (Trio-WES) for recurrent urinary tract infection with dysuria at 6 months of age, with a normal karyotype and chromosomal microarray analysis (CMA). …”
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