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1دورية أكاديمية
المؤلفون: Zhichao Hou, Jiacheng Leng, Jiating Yu, Zheng Xia, Ling-Yun Wu
المصدر: BMC Bioinformatics, Vol 24, Iss 1, Pp 1-14 (2023)
مصطلحات موضوعية: Survival analysis, Neural nerworks, Model interpretability, Pathways, Disease genes, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2105Test
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2دورية أكاديمية
المصدر: Journal of Inflammation Research, Vol Volume 16, Pp 2689-2705 (2023)
مصطلحات موضوعية: purpose: the purpose was to identify shared immune cells and co-disease genes in chronic heart failure (hf) and systemic lupus erythematosus (sle), as well as explore the potential mechanisms of action between hf and sle. methods: a collection of peripheral blood mononuclear cells (pbmcs) from ten patients with hf and sle and ten normal controls (nc) was used for transcriptome sequencing. differentially expressed genes (degs) analysis, enrichment analysis, immune infiltration analysis, weighted gene co-expression network analysis (wgcna), protein-protein interaction (ppi) analysis, and machine learning were applied for the screening of shared immune cells and co-disease genes in hf and sle. gene expression analysis and correlation analysis were used to explore the potential mechanisms of co-disease genes and immune cells in hf and sle. results: in this study, it was found that two immune cells, t cells cd4 naïve and monocytes, displayed similar expression patterns in hf and sle at the same time. by taking intersection of the above immune cell-associated genes with the degs common to both hf and sle, four immune-associated co-disease genes, ccr7, rnase2, rnase3 and cxcl10, were finally identified. ccr7, as one of the four key genes, was significantly down-regulated in hf and sle, while the rest three key genes were all significantly up-regulated in both diseases. conclusions: t cells cd4 naïve and monocytes were first revealed as possible shared immune cells of hf and sle, and ccr7, rnase3 and cxcl10 were identified as possible key genes common to hf and sle as well as potential biomarkers or therapeutic targets for hf and sle., Pathology, RB1-214, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://www.dovepress.com/identification-of-shared-immune-cells-and-immune-related-coTest-disease-ge-peer-reviewed-fulltext-article-JIR; https://doaj.org/toc/1178-7031Test
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3دورية أكاديمية
المؤلفون: R. John Solaro, Paul H. Goldspink, Beata M. Wolska
المصدر: Biomedicines, Vol 12, Iss 5, p 999 (2024)
مصطلحات موضوعية: sarcomere disease genes, TTI, myosin control mechanisms, sarcomere activators, precision medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4رسالة جامعية
المؤلفون: Althagafi, Azza Th.
مرشدي الرسالة: Hoehndorf, Robert, Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division, Moshkov, Mikhail, Gojobori, Takashi, Schofield, Paul N.
مصطلحات موضوعية: Whole-Exome Sequencing, Whole-Genome Sequencing, Disease Genes, Disease Variants, Disease Phenotypes, Causal Variants Prediction, Causal Genes Prediction, Artificial Intelligence, Data Mining, Machine Learning, Deep Learning, Data Analytics, Biological Interactions, Protein-Protein Interactions, Gene-Disease Predictions, Variant-Disease Associations, Rare Diseases, Complex Diseases, Gene-Phenotype Associations, Ontology, Gene Product Functions, Anatomical Locations, Gene Prioritization, Variant Prioritization, Loss of Gene Function, Background Knowledge Data, Biological Knowledge Graph, Graph-Based Machine Learning, Biomedical Ontologies, Linked Biological Data, Representation Learning, Embeddings, Data Integration, Precision Medicine, Decision-Making, Biomedicine.
العلاقة: N/A
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5رسالة جامعية
المؤلفون: Galeano Galeano, Diego
مصطلحات موضوعية: drug side effects, prediction, disease genes, recommender systems
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6رسالة جامعية
المؤلفون: Martinez Lyons, Anabel
المساهمون: Zeviani, Massimo
مصطلحات موضوعية: 616, mitochondrial medicine, mitochondrial disease, mitochondrial genetics, mitochondrial disease genes, OXPHOS assembly factors, electron transport chain, electron transport chain assembly factors, Complex I assembly factor, Complex IV assembly factors, COA7, TMCO6, whole exome sequencing
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7دورية أكاديمية
المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
مصطلحات موضوعية: phosphatase, phosphatome, disease genes, de novo mutation, genome sequencing, rare disorders, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1107930/fullTest; https://doaj.org/toc/2296-634XTest
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8دورية أكاديمية
المؤلفون: Alan J. Robertson, Khoa Tran, Chirag Patel, Clair Sullivan, Zornitza Stark, Nicola Waddell
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100820- (2023)
مصطلحات موضوعية: Clinical genomics, Diagnosis, Disease genes, Panelapp Australia, Rare genetic disease, Re-analysis of genomic data, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008294Test; https://doaj.org/toc/2949-7744Test
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9دورية أكاديمية
المؤلفون: Jenna C. Carlson, Mohanraj Krishnan, Samantha L. Rosenthal, Emily M. Russell, Jerry Z. Zhang, Nicola L. Hawley, Jaye Moors, Hong Cheng, Nicola Dalbeth, Janak R. de Zoysa, Huti Watson, Muhammad Qasim, Rinki Murphy, Take Naseri, Muagututi’a Sefuiva Reupena, Satupa‘itea Viali, Lisa K. Stamp, John Tuitele, Erin E. Kershaw, Ranjan Deka, Stephen T. McGarvey, Tony R. Merriman, Daniel E. Weeks, Ryan L. Minster
المصدر: HGG Advances, Vol 4, Iss 1, Pp 100155- (2023)
مصطلحات موضوعية: identification of disease genes, Polynesia, cardiovascular disease risk factors, genetics of complex traits, isolated population, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000720Test; https://doaj.org/toc/2666-2477Test
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10دورية أكاديمية
المؤلفون: Zhichao Hou, Jiacheng Leng, Jiating Yu, Zheng Xia, Ling-Yun Wu
مصطلحات موضوعية: Artificial Intelligence and Image Processing, Survival analysis, Neural nerworks, Model interpretability, Pathways, Disease genes
الإتاحة: https://doi.org/10.6084/m9.figshare.24571804.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_PathExpSurv_pathway_expansion_for_explainable_survival_analysis_and_disease_gene_discovery/24571804Test