المؤلفون: Luo Z, Lu G, Yang Q, Ding J, Wang T, Hu P

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

Relation: https://www.dovepress.com/identification-of-shared-immune-cells-and-immune-related-co-disease-ge-peer-reviewed-fulltext-article-JIR; https://doaj.org/toc/1178-7031

URL الوصول: https://doaj.org/article/6d7729571f9b486aa14af26c3ba9568e

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

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/46863cb63f0a49cfbba2618cfcebe134

المؤلفون: Irina A. Goncharova, Sofia A. Shipulina, Aleksei A. Sleptcov, Aleksei A. Zarubin, Nail R. Valiakhmetov, Dmitry S. Panfilov, Evgeniya V. Lelik, Viktor V. Saushkin, Boris N. Kozlov, Ludmila P. Nazarenko, Maria S. Nazarenko

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8315 (2024)

مصطلحات موضوعية: sporadic thoracic aortic aneurysm, thoracic aortic disease genes, variants of uncertain significance, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/15/8315; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/7fda25715a1e41f5a91192096c9877dd

الاتاحة: https://doi.org/10.3390/ijms25158315
https://doaj.org/article/7fda25715a1e41f5a91192096c9877dd

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

Relation: https://www.mdpi.com/2227-9059/12/5/999; https://doaj.org/toc/2227-9059; https://doaj.org/article/b64885e49c784f88b7394ce904f21837

الاتاحة: https://doi.org/10.3390/biomedicines12050999
https://doaj.org/article/b64885e49c784f88b7394ce904f21837

المؤلفون: Galeano Galeano, Diego

مصطلحات موضوعية: drug side effects, prediction, disease genes, recommender systems

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.855292

المؤلفون: Althagafi, Azza Th.

Thesis Advisors: 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.

Relation: N/A

الاتاحة: http://hdl.handle.net/10754/693761

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

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.810086

المؤلفون: Ekaterina Lyulcheva-Bennett, Genomics England Research Consortium, Daimark Bennett

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

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1107930/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/998baeef1cf44b6399565cd11ca47dff

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

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000720; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/733af63f641347d89dd47716fcd3a8aa

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

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008294; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/f71178a1b59144a1a813934da0b247fc

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

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_PathExpSurv_pathway_expansion_for_explainable_survival_analysis_and_disease_gene_discovery/24571804

الاتاحة: https://doi.org/10.6084/m9.figshare.24571804.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_PathExpSurv_pathway_expansion_for_explainable_survival_analysis_and_disease_gene_discovery/24571804

المؤلفون: Genomics England Research Consortium

المساهمون: Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: Exome/genetics, Genetic Association Studies, Humans, Phenotype, Whole Exome Sequencing, Novel gene discovery, Genome sequencing, Diagnostic uplift, Disease genes, Mendelian disease, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447124

الاتاحة: https://dspace.library.uu.nl/handle/1874/447124

المؤلفون: Erdogan, Fettah, Radu, Tudor Bogdan, Orlova, Anna, Qadree, Abdul Khawazak, de Araujo, Elvin Dominic, Israelian, Johan, Valent, Peter, Mustjoki, Satu M., Herling, Marco, Moriggl, Richard, Gunning, Patrick Thomas

المساهمون: HUS Comprehensive Cancer Center, Department of Clinical Chemistry and Hematology, Clinicum, Digital Precision Cancer Medicine (iCAN), TRIMM - Translational Immunology Research Program, Hematologian yksikkö

مصطلحات موضوعية: blood cancer, breast cancer, colorectal cancers, JAK, STAT pathway in cancers, liver cancers, lung cancer, protein-protein interactions, systems medicine, COLORECTAL-CANCER, DISEASE GENES, HUMAN BREAST, APOPTOSIS, ACTIVATION, MUTATIONS, CELLS, INHIBITION, TUMORS, EGFR, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: NSERC, Grant/Award Number: RGPIN-2014-05767; CIHR, Grant/Award Number: MOP-130424 and MOP-137036; Canada Research Chair, Grant/Award Number: 950-232042; Canadian Cancer Society, Grant/Award Number: 703963; Canadian Breast Cancer Foundation, Grant/ Award Number: 705456; CFI, Grant/ Award Number: 33536; Ontario Research Fund, Grant/Award Number: 34876; EU consortia ERAPerMed `JAKSTAT--TARGET'; ERANETPLL; European Research Council; Austrian Science Fund, Grant/Award Number: SFB- -F04707 and SFB--F06105; Erdogan , F , Radu , T B , Orlova , A , Qadree , A K , de Araujo , E D , Israelian , J , Valent , P , Mustjoki , S M , Herling , M , Moriggl , R & Gunning , P T 2022 , ' JAK-STAT core cancer pathway : An integrative cancer interactome analysis ' , Journal of Cellular and Molecular Medicine , vol. 26 , no. 7 , pp. 2049-2062 . https://doi.org/10.1111/jcmm.17228; ORCID: /0000-0002-0816-8241/work/111921364; http://hdl.handle.net/10138/342896; 15527420-f381-4be3-988d-a8e64fa37b30; 000762358800001

الاتاحة: http://hdl.handle.net/10138/342896

المؤلفون: Medi Kori, Esra Gov

المصدر: Genes; Volume 13; Issue 12; Pages: 2233

مصطلحات موضوعية: gastric cancer, disease genes, diagnostic genes, prognostic genes, multi-omics, systems biology

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Bioinformatics; https://dx.doi.org/10.3390/genes13122233

الاتاحة: https://doi.org/10.3390/genes13122233

المؤلفون: Dmitry S. Kolobkov, Darya A. Sviridova, Serikbai K. Abilev, Artem N. Kuzovlev, Lyubov E. Salnikova

المصدر: Genes; Volume 13; Issue 7; Pages: 1168

مصطلحات موضوعية: differential expression (DE), disease genes, gene expression omnibus (GEO), gene ontology (GO), transcriptomics analysis of healthy tissues, human phenotype ontology (HPO)

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13071168

الاتاحة: https://doi.org/10.3390/genes13071168

المؤلفون: Chenlu Di, Jesus Murga Moreno, Diego F Salazar-Tortosa, M Elise Lauterbur, David Enard

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: disease genes, adaptive evolution, genetic interference, bottlenecks, selective sweeps, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/69026; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/5db49e16e08f432382eef960a9a04d08

المؤلفون: Chaima Aouiche, Bolin Chen, Xuequn Shang

المصدر: BMC Bioinformatics, Vol 20, Iss S7, Pp 97-107 (2019)

مصطلحات موضوعية: Disease genes, Clinical stages, Dynamic modules, Pathway networks, Disease evolution, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-019-2740-6; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/ac8c95ae092d4752be2ec14a42056b4d

المؤلفون: Michal Krassowski, Diogo Pellegrina, Miles W. Mee, Amelie Fradet-Turcotte, Mamatha Bhat, Jüri Reimand

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: post-translational modifications (PTM), genome variation, disease genes, cancer drivers, cell signaling, protein interaction networks, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.626821/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/7ba7e2cb2b8e4fb5ad8d1336ed0e0588

المؤلفون: Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar

المصدر: http://lobid.org/resources/99370678534106441#!, 99(12):1755-1768.

مصطلحات موضوعية: Adolescent [MeSH], Female [MeSH], Functional protein domains, Neurodevelopmental disorders, Humans [MeSH], Whole Exome Sequencing [MeSH], Tyrosine-tRNA Ligase/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Protein Conformation [MeSH], Original Article, Male [MeSH], Novel disease genes, Multisystem diseases, Aminoacyl-tRNA synthetases (ARS1), Phenotype [MeSH], Child [MeSH], Phenotypic heterogeneity, Tyrosine-tRNA Ligase/chemistry [MeSH], Child, Preschool [MeSH]

Relation: https://repository.publisso.de/resource/frl:6448273; https://doi.org/10.1007/s00109-021-02124-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599376/

الاتاحة: https://repository.publisso.de/resource/frl:6448273
https://doi.org/10.1007/s00109-021-02124-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599376/

المؤلفون: BADKAS, Apurva, NGUYEN, Thanh-Phuong, Caberlotto, Laura, SCHNEIDER, Jochen, DE LANDTSHEER, Sébastien, SAUTER, Thomas

المساهمون: ULHPC - University of Luxembourg: High Performance Computing

المصدر: Biology, 10 (2) (2021)

مصطلحات موضوعية: co-morbidities, metabolic disease genes, metabolic diseases, networks, topology, Life sciences, Sciences du vivant

Relation: FNR9139104 - An Integrative Systems Medicine Approach To Mapping Human Metabolic Diseases, 2014 (01/07/2015-31/03/2017) - Thanh Phuong Nguyen; urn:issn:2079-7737; https://orbilu.uni.lu/handle/10993/46639; info:hdl:10993/46639; info:pmid:33546175; wos:000622113300001

الاتاحة: https://orbilu.uni.lu/handle/10993/46639
https://orbilu.uni.lu/bitstream/10993/46639/1/biology-10-00107-v3.pdf
https://doi.org/10.3390/biology10020107