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1421
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Published 2018-01-01“…We employed homozygosity mapping and exome sequencing which is an efficient strategy to characterize the recessive genes, thus obtaining a rapid molecular diagnosis for genetically heterogeneous disorders like HSAN. …”
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1422
MONet: cancer driver gene identification algorithm based on integrated analysis of multi-omics data and network models
Published 2025-02-01Subjects: Get full text
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1423
Comprehensive Analysis of m5C RNA Methylation Regulator Genes in Clear Cell Renal Cell Carcinoma
Published 2021-01-01“…To reveal the relationships between the expression levels of m5C-related genes and the prognosis value in ccRCC, consensus clustering analysis was carried out. …”
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1424
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1425
Influence of 16S Ribosomal RNA Gene Polymerase Chain Reaction and Sequencing on Antibiotic Management of Bone and Joint Infections
Published 2013-01-01“…INTRODUCTION: Amplification of the 16S ribosomal RNA gene by polymerase chain reaction (PCR) followed by analysis of generated sequences can be an important adjunct to conventional cultures.…”
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1426
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1427
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
Published 2018-01-01“…We identified the disease by gene sequencing in a Chinese pedigree with SEDT. …”
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1428
Identification of tacrolimus-related genes in familial combined hyperlipidemia and development of a diagnostic model using bioinformatics analysis
Published 2025-02-01Subjects: Get full text
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1429
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1430
Integration of transcriptomics and metabolomics data revealed role of insulin resistant SNW1 gene in the pathophysiology of gestational diabetes
Published 2025-02-01“…This study identified SNW1 as a novel insulin-resistant gene that induces hyperglycemia by elevating gluconeogenesis and decreasing glucose uptake. …”
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1431
Seven Immune-Related Genes’ Prognostic Value and Correlation with Treatment Outcome in Head and Neck Squamous Cell Carcinoma
Published 2023-01-01“…The differentially expressed genes (DEGs) between HNSCC and normal samples were identified by multiple test corrections in TCGA database. …”
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1432
Exploring potentially synthetic genes related to diarrhetic shellfish toxins production in Prorocentrum sp. via comparative transcriptomics
Published 2025-01-01“…Additionally, we analyzed differential gene expression of PKSs in P. arenarium under nitrogen and phosphorus-limited conditions, revealing a correlation between specific PKSs gene expression patterns and okadaic acid (OA) content variations. …”
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1433
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1434
Utilizing bioinformatics and machine learning to identify CXCR4 gene-related therapeutic targets in diabetic foot ulcers
Published 2025-02-01“…Finally, We analyzed the molecular pathways of CXCR4 in DFUs by Gene set enrichment analysis (GSEA).ResultsWe identified a total of 751 differential genes, of which 409 genes were significantly upregulated and 342 genes were downregulated in diabetic foot ulcer tissues. …”
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1435
Genome-Wide Association and Transcriptome-Wide Association Studies Identify Novel Susceptibility Genes Contributing to Colorectal Cancer
Published 2022-01-01“…Transcriptome-wide association studies (TWAS) integrate summary statistics from CRC genome-wide association studies (GWAS) with gene expression data to prioritize these GWAS findings and uncover additional gene-trait correlations. …”
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1436
Targeted correction of megabase-scale CNTN6 duplication in induced pluripotent stem cells and impacts on gene expression
Published 2025-01-01“…Copy number variations of the human CNTN6 gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. …”
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1437
Comprehensive analysis reveals the tumor suppressor role of macrophage signature gene FCER1G in hepatocellular carcinoma
Published 2025-02-01“…Through principal component analysis and t-SNE dimensionality reduction, we identified 2,000 highly variable genes and per-formed clustering and annotation of 17 cell clusters, revealing 482 macrophage-related feature genes. …”
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1438
Wnt/ β-catenin and CTNNB1 gene mutation in hepatocellular carcinoma, a case study in Egyptian patients
Published 2025-01-01Subjects: Get full text
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1439
Genome-wide association scan and candidate gene analysis for seed coat color in sesame (Sesamum indicum L.)
Published 2025-01-01“…GWAS identified significant SNPs associated with seed coat color traits, revealing key genomic regions on chromosomes 3, 6, 9, 12, and 13. Candidate gene analysis highlighted several genes, including DOF zinc finger proteins and WRKY transcription factors, which may play essential roles in pigment biosynthesis pathways. …”
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1440
Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)
Published 2012-01-01“…We analysed the six promoter and structural mannose-binding lectin 2 gene variants in 107 patients with pulmonary tuberculosis and 441 healthy controls. …”
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