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1دورية أكاديمية
المؤلفون: Ajore, Ram, Niroula, Abhishek, Pertesi, Maroulio, Cafaro, Caterina, Thodberg, Malte, Went, Molly, Bao, Erik L., Duran-Lozano, Laura, Lopez de Lapuente Portilla, Aitzkoa, Olafsdottir, Thorunn, Ugidos-Damboriena, Nerea, Magnusson, Olafur, Samur, Mehmet, Lareau, Caleb A., Halldorsson, Gisli H., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gunnarsdottir, Kristbjorg, Försti, Asta, Goldschmidt, Hartmut, Hemminki, Kari, van Rhee, Frits, Kimber, Scott, Sperling, Adam S., Kaiser, Martin, Anderson, Kenneth, Jonsdottir, Ingileif, Munshi, Nikhil, Rafnar, Thorunn, Waage, Anders, Weinhold, Niels, Thorsteinsdottir, Unnur, Sankaran, Vijay G., Stefansson, Kari, Houlston, Richard, Nilsson, Björn
المساهمون: Faculty of Industrial Engineering, Mechanical Engineering and Computer Science, Faculty of Medicine, Other departments, Health Sciences
مصطلحات موضوعية: Adaptor Proteins, Signal Transducing/genetics, Antineoplastic Combined Chemotherapy Protocols, B-Lymphocytes/immunology, Base Sequence, Cell Cycle Proteins/genetics, Chromatin/chemistry, Chromosomal Proteins, Non-Histone/genetics, DNA, Intergenic/genetics, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors/genetics, Humans, Inheritance Patterns, Multiple Myeloma/drug therapy, Neoplasm Proteins/genetics, Plasma Cells/immunology, Polymorphism, Genetic, Primary Cell Culture, Quantitative Trait Loci, Repressor Proteins/genetics, Risk Assessment, Transcriptional Elongation Factors/genetics, Multidisciplinary, General Physics and Astronomy, General Chemistry
العلاقة: Nature Communications; 13(1); http://www.scopus.com/inward/record.url?scp=85122897580&partnerID=8YFLogxKTest; Ajore , R , Niroula , A , Pertesi , M , Cafaro , C , Thodberg , M , Went , M , Bao , E L , Duran-Lozano , L , Lopez de Lapuente Portilla , A , Olafsdottir , T , Ugidos-Damboriena , N , Magnusson , O , Samur , M , Lareau , C A , Halldorsson , G H , Thorleifsson , G , Norddahl , G L , Gunnarsdottir , K , Försti , A , Goldschmidt , H , Hemminki , K , van Rhee , F , Kimber , S , Sperling , A S , Kaiser , M , Anderson , K , Jonsdottir , I , Munshi , N , Rafnar , T , Waage , A , Weinhold , N , Thorsteinsdottir , U , Sankaran , V G , Stefansson , K , Houlston , R & Nilsson , B 2022 , ' Functional dissection of inherited non-coding variation influencing multiple myeloma risk ' , Nature Communications , vol. 13 , no. 1 , 151 , pp. 151 . https://doi.org/10.1038/s41467-021-27666-xTest; c6db1b45-564f-4e01-9670-71734456688c; 85122897580; unpaywall: 10.1038/s41467-021-27666-x; https://hdl.handle.net/20.500.11815/3987Test
الإتاحة: https://doi.org/20.500.11815/3987Test
https://doi.org/10.1038/s41467-021-27666-xTest
https://hdl.handle.net/20.500.11815/3987Test -
2دورية أكاديمية
المؤلفون: Baars, Matthijs J.D., Douma, Thera, Simeonov, Dimitre R., Myers, Darienne R., Kulhanek, Kayla, Banerjee, Saikat, Zwakenberg, Susan, Baltissen, Marijke P., Amini, Mojtaba, de Roock, Sytze, van Wijk, Femke, Vermeulen, Michiel, Marson, Alexander, Roose, Jeroen P., Vercoulen, Yvonne
المساهمون: CMM Sectie Molecular Cancer Research, CMM Groep Vercoulen, Cancer, CMM Groep Burgering, Immuno/reuma onderzoek 1 (Vastert), CTI Van Wijk, Child Health, Infection & Immunity
مصطلحات موضوعية: autoimmunity, RASGRP1, RUNX1, T cells, transcription, Autoimmunity/genetics, Humans, Mice, Inbred C57BL, Guanine Nucleotide Exchange Factors/genetics, Core Binding Factor Alpha 2 Subunit/genetics, Knockout, CRISPR-Cas Systems/genetics, Animals, DNA-Binding Proteins/genetics, CD4-Positive T-Lymphocytes/immunology, Genetic/genetics, Inflammation/genetics, Histones/genetics, Gene Expression Regulation/genetics, Immunology and Allergy, Immunology, Journal Article, Research Support, Non-U.S. Gov't, U.S. Gov't, Non-P.H.S, N.I.H., Extramural
وصف الملف: application/pdf
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3دورية أكاديمية
المصدر: 23andMe Research Team 2021 , ' Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders ' , Nature Genetics , vol. 53 , no. 11 , pp. 1543-1552 . https://doi.org/10.1038/s41588-021-00950-8Test
مصطلحات موضوعية: Aged, Anxiety Disorders/genetics, CD56 Antigen/genetics, Cell Adhesion Molecules/genetics, Cytoskeletal Proteins/genetics, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Exchange Factors/genetics, Homeodomain Proteins/genetics, Humans, Irritable Bowel Syndrome/epidemiology, Male, Middle Aged, Molecular Chaperones/genetics, Mood Disorders/genetics, Polymorphism, Single Nucleotide, United Kingdom/epidemiology
الإتاحة: https://doi.org/10.1038/s41588-021-00950-8Test
https://research.manchester.ac.uk/en/publications/3dd6a1aa-4bf8-4587-8b27-76e526cab9a7Test -
4دورية أكاديمية
المؤلفون: Briševac, Dušica, Scholz, Ralf, Du, Dan, Elagabani, Mohammad Nael, Köhr, Georg, Kornau, Hans-Christian
المصدر: Journal of neurochemistry 157(3), 666 - 683 (2021). doi:10.1111/jnc.15230
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, ADP-Ribosylation Factor 6, ADP-Ribosylation Factors: metabolism, Actin Cytoskeleton: metabolism, Animals, Dendritic Spines: ultrastructure, Fragile X Mental Retardation Protein: genetics, Fragile X Mental Retardation Protein: metabolism, Fragile X Syndrome: genetics, Fragile X Syndrome: metabolism, Guanine Nucleotide Exchange Factors: genetics, Guanine Nucleotide Exchange Factors: metabolism, Guanosine Triphosphate: metabolism, Mice, Inbred C57BL, Knockout, Nerve Tissue Proteins: genetics, Neuronal Plasticity: genetics, Neurons: metabolism, RNA Interference, Receptors, Metabotropic Glutamate: metabolism, Synaptosomes: metabolism
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33125726; info:eu-repo/semantics/altIdentifier/issn/0022-3042; info:eu-repo/semantics/altIdentifier/pmid/pmid:33125726; info:eu-repo/semantics/altIdentifier/issn/1471-4159; https://pub.dzne.de/record/155270Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-00550%22Test
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5دورية أكاديمية
المؤلفون: Campos, C, Fragoso, S, Luís, R, Pinto, F, Brito, C, Esteves, S, Pataco, M, Santos, S, Machado, P, Vicente, JB, Rosa, JC, Cavaco, BM, Moura, C, Pojo, M
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Adult, Aged, Cadherin Related Proteins, Cadherins / genetics, Exome / genetics, Female, Gene Expression Regulation, Neoplastic / genetics, Genetic Predisposition to Disease, Germ-Line Mutation / genetics, Guanine Nucleotide Exchange Factors / genetics, High-Throughput Nucleotide Sequencing / methods, Humans, Male, Melanoma / genetics, Melanoma / pathology, Middle Aged, Transcription Factors / genetics, Whole Exome Sequencing / methods
وصف الملف: application/pdf
العلاقة: info:eu-repo/grantAgreement/FCT/POR_NORTE/SFRH%2FBPD%2F115730%2F2016/PT; Genes, vol.11(4):403; https://www.mdpi.com/2073-4425/11/4/403Test; https://hdl.handle.net/10216/142513Test
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6دورية أكاديمية
المؤلفون: Molinard-Chenu, Aude, Fluss, Joël Victor, Laurent, Sacha, Laurent, Meryle, Guipponi, Michel, Dayer, Alexandre
المصدر: ISSN: 2328-9503 ; Annals of Clinical and Translational Neurology, vol. 7, no. 1 (2020) p. 121-125.
مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/616.89, info:eu-repo/classification/ddc/618, Abnormalities, Multiple/genetics, Adult, Animals, Cell Movement, Cerebral Cortex/embryology, Disease Models, Animal, Guanine Nucleotide Exchange Factors/genetics, Humans, Intellectual Disability/genetics, Male, Malformations of Cortical Development/genetics, Mice, Motor Neuron Disease/genetics, Mutation, Missense, Proto-Oncogene Proteins/genetics, Young Adult
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31846234; https://archive-ouverte.unige.ch/unige:154128Test; unige:154128
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7دورية أكاديمية
المؤلفون: Cristiano, Luigi
المساهمون: Aesthetic and medical biotechnologies research unit, Prestige, Terranuova Bracciolini, Italy
مصطلحات موضوعية: EEF1B2, Eukaryotic translation elongation factor 1 beta 2, Translation, Translation elongation factor, protein synthesis, cancer, oncogene, cancer marker, Genes Section, Biomarkers, Tumor/*metabolism, Female, Gene Expression Regulation, Neoplastic, Guanine Nucleotide Exchange Factors/genetics/*metabolism, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Multivariate Analysis
العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Genes/EEF1B2ID43239ch2q33.htmlTest; Luigi, Cristiano. EEF1B2 (eukaryotic translation elongation factor 1 beta 2). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2020, 9, p. 337-345; http://hdl.handle.net/2042/70784Test; https://doi.org/10.4267/2042/70784Test
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8دورية أكاديمية
المؤلفون: Mazevet, M., Belhadef, A., Ribeiro, M., Dayde, D., Llach, A., Laudette, M., Belleville, T., Mateo, P., Gressette, M., Lefebvre, F., Chen, J., Bachelot-Loza, C., Rucker-Martin, C., Lezoualch, F., Crozatier, B., Benitah, J.P., Vozenin, M.C., Fischmeister, R., Gomez, A.M., Lemaire, C., Morel, E.
المصدر: eLife, vol. 12, pp. e83831
مصطلحات موضوعية: Mice, Humans, Animals, Guanine Nucleotide Exchange Factors/genetics, Guanine Nucleotide Exchange Factors/metabolism, Cardiotoxicity, Cardiomyopathy, Dilated/pathology, Doxorubicin/metabolism, Cardiomyopathies/metabolism, Myocytes, Cardiac/metabolism, Knockout, Apoptosis, EPAC1, cancer biology, cardiology, cell biology, doxorubicin, human, mouse, rat
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37551870; info:eu-repo/semantics/altIdentifier/eissn/2050-084X; https://serval.unil.ch/notice/serval:BIB_55FAD703BC5ETest; urn:issn:2050-084X
الإتاحة: https://doi.org/10.7554/eLife.83831Test
https://serval.unil.ch/notice/serval:BIB_55FAD703BC5ETest -
9دورية أكاديمية
المؤلفون: Wilson, Alicia S, Law, Hsei Di, Knobbe-Thomsen, Christiane B, Kearney, Conor J, Oliaro, Jane, Binsfeld, Carole, Burgio, Gaetan, Starrs, Lora, BRENNER, Dirk, Randall, Katrina L, Brüstle, Anne
المصدر: European Journal of Immunology, 49 (5), 770 - 781 (2019-05)
مصطلحات موضوعية: CD4 T cells, Th17 cells, dedicator of Cytokinesis 8, experimental autoimmune encephalomyelitis, migration, Biomarkers, Dock8 protein, mouse, Guanine Nucleotide Exchange Factors, Animals, Chemotaxis, Leukocyte/genetics, Leukocyte/immunology, Encephalomyelitis, Autoimmune, Experimental/etiology, Experimental/metabolism, Experimental/pathology, Gene Expression, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors/genetics, Lymphocyte Activation/genetics, Lymphocyte Activation/immunology, Mice, T-Lymphocyte Subsets/immunology, T-Lymphocyte Subsets/metabolism, Th17 Cells/immunology, Th17 Cells/metabolism, Disease Susceptibility, Lymphocyte Count
العلاقة: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Feji.201847960Test; urn:issn:0014-2980; urn:issn:1521-4141; https://orbilu.uni.lu/handle/10993/57960Test; info:hdl:10993/57960; https://orbilu.uni.lu/bitstream/10993/57960/1/Wilson%20AS%20et%20al_Eur%20J%20Immunol%202019.pdfTest; scopus-id:2-s2.0-85061803808; info:pmid:30729501; wos:000465252500012
الإتاحة: https://doi.org/10.1002/eji.201847960Test
https://orbilu.uni.lu/handle/10993/57960Test
https://orbilu.uni.lu/bitstream/10993/57960/1/Wilson%20AS%20et%20al_Eur%20J%20Immunol%202019.pdfTest -
10دورية أكاديمية
المؤلفون: Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel
المساهمون: Genetica Klinische Genetica, Circulatory Health, Metabole ziekten patientenzorg, Child Health, Cluster C, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman
مصطلحات موضوعية: epilepsy, IQSEC2, isoforms, X-linked inheritance, intellectual disability, Seizures/epidemiology, Humans, Infant, Male, Protein Isoforms/genetics, Brain Diseases/epidemiology, Guanine Nucleotide Exchange Factors/genetics, Sex Characteristics, Intellectual Disability/epidemiology, Brain/growth & development, Phenotype, Pedigree, Female, Mutation, Newborn, Genetics(clinical), Research Support, Non-U.S. Gov't, Journal Article
وصف الملف: image/pdf
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