المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

المصدر: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6

مصطلحات موضوعية: Adult, Male, Adolescent, kinase, Messenger, Inheritance Patterns, Translocation, Medical and Health Sciences, Cell Line, Young Adult, Genetic, Clinical Research, Loss of Function Mutation, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, Genetic Association Studies, Genetics & Heredity, Tousled-like, Base Sequence, Human Genome, Neurosciences, Facies, Infant, Deciphering Developmental Disorders Study, Biological Sciences, Brain Disorders, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, RNA, Female, Protein Kinases, facial averaging, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379

المؤلفون: Voo KS; Department of Genomic Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030; ksvoo@mdanderson.org liuyo@Medimmune.com., Bover L; Department of Genomic Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030;, Harline ML; Department of Genomic Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030;, Weng J; Department of Lymphoma and Myeloma, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030; and., Sugimoto N; MedImmune, Gaithersburg, MD 20878., Liu YJ; MedImmune, Gaithersburg, MD 20878 ksvoo@mdanderson.org liuyo@Medimmune.com.

المصدر: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2014 Jul 15; Vol. 193 (2), pp. 627-34. Date of Electronic Publication: 2014 Jun 13.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association of Immunologists Country of Publication: United States NLM ID: 2985117R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-6606 (Electronic) Linking ISSN: 00221767 NLM ISO Abbreviation: J Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Leukocytes, Mononuclear/*immunology , Lymphocyte Activation/*immunology , T-Lymphocytes, Regulatory/*immunology , Toll-Like Receptors/*immunology, Adult ; Analysis of Variance ; B-Lymphocytes/drug effects ; B-Lymphocytes/immunology ; B-Lymphocytes/metabolism ; CD4-Positive T-Lymphocytes/drug effects ; CD4-Positive T-Lymphocytes/immunology ; CD4-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/drug effects ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/metabolism ; Cell Proliferation/drug effects ; Cells, Cultured ; Flagellin/pharmacology ; Forkhead Transcription Factors/immunology ; Forkhead Transcription Factors/metabolism ; Humans ; Imidazoles/pharmacology ; Interferon-gamma/immunology ; Interferon-gamma/metabolism ; Interleukin-10/immunology ; Interleukin-10/metabolism ; Interleukin-6/immunology ; Interleukin-6/metabolism ; Killer Cells, Natural/drug effects ; Killer Cells, Natural/immunology ; Killer Cells, Natural/metabolism ; Leukocytes, Mononuclear/drug effects ; Leukocytes, Mononuclear/metabolism ; Lipopeptides/pharmacology ; Lipopolysaccharides/pharmacology ; Lymphocyte Activation/drug effects ; Quinolines/pharmacology ; T-Lymphocytes, Regulatory/drug effects ; T-Lymphocytes, Regulatory/metabolism ; Thiazoles/pharmacology ; Toll-Like Receptors/agonists ; Toll-Like Receptors/metabolism ; Tumor Necrosis Factor-alpha/immunology ; Tumor Necrosis Factor-alpha/metabolism

المؤلفون: Voo KS; Department of Immunology, Center for Cancer Immunology Research, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030;, Bover L, Harline ML, Vien LT, Facchinetti V, Arima K, Kwak LW, Liu YJ

المصدر: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2013 Oct 01; Vol. 191 (7), pp. 3641-50. Date of Electronic Publication: 2013 Sep 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association of Immunologists Country of Publication: United States NLM ID: 2985117R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-6606 (Electronic) Linking ISSN: 00221767 NLM ISO Abbreviation: J Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Antibodies, Monoclonal/*pharmacology , Receptors, OX40/*antagonists & inhibitors , T-Lymphocyte Subsets/*drug effects , T-Lymphocyte Subsets/*immunology , T-Lymphocytes, Regulatory/*drug effects , T-Lymphocytes, Regulatory/*immunology, Animals ; Antibodies, Monoclonal/metabolism ; Antibodies, Monoclonal, Humanized/metabolism ; Antibodies, Monoclonal, Humanized/pharmacology ; Cell Line ; Cell Proliferation/drug effects ; Female ; Humans ; Lymphocyte Activation/drug effects ; Lymphocyte Activation/immunology ; Macaca mulatta ; Mice ; Protein Binding ; Receptors, OX40/metabolism