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Integration of single-cell regulon atlas and multi-omics data for prognostic stratification and personalized treatment prediction in human lung adenocarcinoma
Transcriptional programs are often dysregulated in cancers. A comprehensive investigation of potential regulons is critical to the understanding of...
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GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
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Construction and Validation of a Prognostic Risk Prediction Model for Lactate Metabolism-Related lncRNA in Endometrial Cancer
Endometrial cancer (EC) is a common group of malignant epithelial tumors that mainly occur in the female endometrium. Lactate is a key regulator of...
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Identification and prediction of molecular factors associated with ischemic stroke: an integrative analysis of DEGs, TFs, and PPI networks
Ischemic stroke (IS) is a complex neurological disorder characterized by the sudden disruption of blood flow to the brain, leading to severe and...
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Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia
Telomerase Reverse Transcriptase ( TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with...
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An Investigation of Clock Gene Variations in Turkish Nannospalax Species
AbstractBlind mole rats ( Nannospalax ) have become famous for their long lifespans and cancer resistance, but it is still unknown what causes them to...
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Web-based prediction of antimicrobial resistance in enterococcal clinical isolates by whole-genome sequencing
Besides phenotypic antimicrobial susceptibility testing (AST), whole genome sequencing (WGS) is a promising alternative approach for detection of...
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The Use of Machine Learning to Support Drug Safety Prediction
The chapter outlines how both supervised and unsupervised machine learning approaches, built with chemical descriptors, are used to develop models...
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In Silico Identification and Characterization of Rare Cold Inducible 2 (RCI2) Gene Family in Cotton
RCI2/PMP3s are involved in biotic and abiotic stresses and have an influence on the regulation of many genes. RCI2/PMP3 genes, which particularly...
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Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia
Single nucleotide polymorphisms (SNPs) of BCL11A gene and HBS1L-MYB intergenic region (named HMIP-2) affect both fetal hemoglobin (HbF) concentration...
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TCR Gene Therapy for Cancer
The protocol describes the procedure of antigen-specific T cellT-cell generation and TCR T-cell receptor (TCR) identification for the use in...
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Identification of Hub Genes in Liver Hepatocellular Carcinoma Based on Weighted Gene Co-expression Network Analysis
Liver hepatocellular carcinoma (LIHC) is a malignant cancer with high incidence and poor prognosis. To investigate the correlation between hub genes...
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Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry
Ancestral differences in genomic variation affect the regulation of gene expression; however, most gene expression studies have been limited to...
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Obesity and hyperinsulinemia drive adipocytes to activate a cell cycle program and senesce
Obesity is considered an important factor for many chronic diseases, including diabetes, cardiovascular disease and cancer. The expansion of adipose...
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In silico analysis of the wild-type and mutant-type of BRCA2 gene
BackgroundThe aim of this study was to conduct an in silico analysis of a novel compound heterozygous variant in breast cancer susceptibility gene 2...
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Integrating a microRNA signature as a liquid biopsy-based tool for the early diagnosis and prediction of potential therapeutic targets in pancreatic cancer
IntroductionPancreatic cancer is a highly aggressive cancer, and early diagnosis significantly improves patient prognosis due to the early...
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Novel Pathogenic Mutation of P209L in TRPC6 Gene Causes Adult Focal Segmental Glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is a leading kidney disease, clinically associated with proteinuria and progressive renal failure. The...
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In Silico Analysis of Oxidative Stress Gene Expression Profile and Biomarker Detection
The normal cell is survived and functions at a proper redox state, so it is important to maintain the cellular redox state by having a balance...
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Hub gene identification and immune infiltration analysis in hepatocellular carcinoma: Computational approach
In the case of hepatocellular carcinoma, there is a need to find novel immune biomarkers to predict cancer prognosis, which will help prolong patient...
