4 results on '"Protein Interaction Maps/genetics"'
Number of results to display per page
Search Results
2. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
- Author
-
Bowl, Michael R., Simon, Michelle M., Ingham, Neil J., Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R., Clary, Dave A., Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, Allen, Sue, Clementson-Mobbs, Sharon, Codner, Gemma, Fray, Martin, Gardiner, Wendy, Joynson, Russell, Kenyon, Janet, Loeffler, Jorik, Nell, Barbara, Parker, Andrew, Quwailid, Deen, Stewart, Michelle, Walling, Alison, Zaman, Rumana, Chen, Chao Kung, Conte, Nathalie, Matthews, Peter, Relac, Mike, Tudose, Ilinca, Warren, Jonathan, Le Marchand, Elise, El Amri, Amal, El Fertak, Leila, Ennah, Hamid, Ali-Hadji, Dalila, Ayadi, Abdel, Wattenhofer-Donze, Marie, Moulaert, David, Jacquot, Sylvie, André, Philippe, Birling, Marie Christine, Pavlovic, Guillaume, Lalanne, Valérie, Lux, Aline, Riet, Fabrice, Mittelhaeuser, Christophe, Bour, Raphael, Guimond, Alain, Bam'Hamed, Chaouki, Leblanc, Sophie, Vasseur, Laurent, Selloum, Mohammed, Sorg, Tania, Ayabe, Shinya, Furuse, Tamio, Kaneda, Hideki, Kobayashi, Kimio, Masuya, Hiroshi, Miura, Ikuo, Obata, Yuichi, Suzuki, Tomohiro, Tamura, Masaru, Tanaka, Nobuhiko, Yamada, Ikuko, Yoshiki, Atsushi, Berberovic, Zorana, Bubshait, Mohammed, Cabezas, Jorge, Carroll, Tracy, Clark, Greg, Clarke, Shannon, Creighton, Amie, Danisment, Ozge, Eskandarian, Mohammad, Feugas, Patricia, Gertsenstein, Marina, Guo, Ruolin, Hunter, Jane, Jacob, Elsa, Lan, Qing, Laurin, Valerie, Law, Napoleon, MacMaster, Sue, Miller, David, Morikawa, Lily, Newbigging, Susan, Owen, Celeste, Penton, Patricia, Pereira, Monica, Qu, Dawei, Shang, Xueyuan, Sleep, Gillian, Sohel, Khondoker, Tondat, Sandra, Wang, Yanchun, Vukobradovic, Igor, Zhu, Yingchun, Chiani, Francesco, Di Pietro, Chiara, Di Segni, Gianfranco, Ermakova, Olga, Ferrara, Filomena, Fruscoloni, Paolo, Gambadoro, Aalessia, Gastaldi, Serena, Golini, Elisabetta, Sala, Gina La, Mandillo, Silvia, Marazziti, Daniela, Massimi, Marzia, Matteoni, Rafaele, Orsini, Tiziana, Pasquini, Miriam, Raspa, Marcello, Rauch, Aline, Rossi, Gianfranco, Rossi, Nicoletta, Putti, Sabrina, Scavizzi, Ferdinando, Tocchini-Valentini, Giuseppe D., Beig, Joachim, Bürger, Antje, Giesert, Florian, Graw, Jochen, Kühn, Ralf, Oritz, Oskar, Schick, Joel, Seisenberger, Claudia, Amarie, Oana, Garrett, Lillian, Hölter, Sabine M., Zimprich, Annemarie, Aguilar-Pimentel, Antonio, Beckers, Johannes, Brommage, Robert, Calzada-Wack, Julia, Fuchs, Helmut, Gailus-Durner, Valérie, Lengger, Christoph, Leuchtenberger, Stefanie, Maier, Holger, Marschall, Susan, Moreth, Kristin, Neff, Frauke, Östereicher, Manuela A., Rozman, Jan, Steinkamp, Ralph, Stoeger, Claudia, Treise, Irina, Stoeger, Tobias, Yildrim, Ali Önder, Eickelberg, Oliver, Becker, Lore, Klopstock, Thomas, Ollert, Markus, Busch, Dirk H., Schmidt-Weber, Carsten, Bekeredjian, Raffi, Zimmer, Andreas, Rathkolb, Birgit, Wolf, Eckhard, Klingenspor, Martin, Tocchini-Valentini, Glauco P., Gao, Xiang, Bradley, Allan, Skarnes, William C., Moore, Mark, Beaudet, Arthur L., Justice, Monica J., Seavitt, John, Dickinson, Mary E., Wurst, Wolfgang, De Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl M.J., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Svenson, Karen L., Braun, Robert E., West, David B., Lloyd, K. C.Kent, Adams, David J., White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen E., Teboul, Lydia M., Wells, Sara, Steel, Karen P., Mallon, Ann Marie, Brown, Steve D.M., Mason, Jeremy [0000-0002-2796-5123], de Angelis, Martin Hrabe [0000-0002-7898-2353], Herault, Yann [0000-0001-7049-6900], Wakana, Shigeharu [0000-0001-8532-0924], McKerlie, Colin [0000-0002-2232-0967], Lloyd, KC Kent [0000-0002-5318-4144], Flicek, Paul [0000-0002-3897-7955], Smedley, Damian [0000-0002-5836-9850], and Apollo - University of Cambridge Repository
- Subjects
0301 basic medicine ,Cancer Research ,Candidate gene ,General Physics and Astronomy ,Datasets as Topic ,Mice ,2.1 Biological and endogenous factors ,Protein Interaction Maps ,Aetiology ,lcsh:Science ,Pediatric ,Genetics ,Mice, Knockout ,Multidisciplinary ,medicine.diagnostic_test ,Hearing Tests ,Ear ,Phenotype ,medicine.anatomical_structure ,Technology Platforms ,International Mouse Phenotyping Consortium ,medicine.symptom ,Biotechnology ,Hearing Loss/epidemiology ,Hearing loss ,Knockout ,1.1 Normal biological development and functioning ,Science ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,Clinical Research ,Underpinning research ,medicine ,otorhinolaryngologic diseases ,Auditory system ,Animals ,Genetic Testing ,IMPC ,mouse ,auditory dysfunction ,Set (psychology) ,Hearing Loss ,Gene ,Genetic testing ,Auditory dysfunction ,Human Genome ,General Chemistry ,030104 developmental biology ,Protein Interaction Maps/genetics ,lcsh:Q - Abstract
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function., The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.
- Published
- 2017
- Full Text
- View/download PDF
3. Meta-analysis on blood transcriptomic studies identifies consistently coexpressed protein-protein interaction modules as robust markers of human aging
- Author
-
Markus Perola, B.T. Heijmans, Willemijn M. Passtoors, Rick Jansen, Joost N. Kok, Gonneke Willemsen, Brenda W.J.H. Penninx, Andrea B. Maier, Erik B. van den Akker, Marian Beekman, Marc Hulsman, Erik W. van Zwet, P.E. Slagboom, Valur Emilsson, Dorret I. Boomsma, Marcel J. T. Reinders, Jelle J. Goeman, Biological Psychology, EMGO+ - Mental Health, Neuromechanics, AMS - Ageing and Morbidity, and Neuroscience Campus Amsterdam - Neurobiology of Mental Health
- Subjects
Netherlands Twin Register (NTR) ,T-Lymphocytes ,Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] ,protein-protein interactions ,Cell Cycle Proteins ,protein–protein interactions ,Aging/blood ,Biology ,Lymphocyte Activation ,Protein–protein interaction ,Transcriptome ,Databases ,Genetic ,SDG 3 - Good Health and Well-being ,Databases, Genetic ,80 and over ,Humans ,Protein Interaction Maps ,Lymphocyte Count ,Gene ,Survival analysis ,Aged ,Genetics ,Regulation of gene expression ,Aged, 80 and over ,Cell Cycle Proteins/genetics ,aging ,proteinprotein interactions ,Robustness (evolution) ,Reproducibility of Results ,Original Articles ,Cell Biology ,T-Lymphocytes/immunology ,Transcriptome/genetics ,Survival Analysis ,network-based analysis ,meta-analysis ,Gene Expression Regulation ,Meta-analysis ,Protein Interaction Maps/genetics ,blood transcriptomics ,Translational elongation ,Lymphocyte Activation/genetics ,Biomarkers ,Biomarkers/blood ,Molecular Chaperones - Abstract
Contains fulltext : 137434.pdf (Publisher’s version ) (Open Access) The bodily decline that occurs with advancing age strongly impacts on the prospects for future health and life expectancy. Despite the profound role of age in disease etiology, knowledge about the molecular mechanisms driving the process of aging in humans is limited. Here, we used an integrative network-based approach for combining multiple large-scale expression studies in blood (2539 individuals) with protein-protein Interaction (PPI) data for the detection of consistently coexpressed PPI modules that may reflect key processes that change throughout the course of normative aging. Module detection followed by a meta-analysis on chronological age identified fifteen consistently coexpressed PPI modules associated with chronological age, including a highly significant module (P = 3.5 x 10(-38)) enriched for 'T-cell activation' marking age-associated shifts in lymphocyte blood cell counts (R(2) = 0.603; P = 1.9 x 10(-10)). Adjusting the analysis in the compendium for the 'T-cell activation' module showed five consistently coexpressed PPI modules that robustly associated with chronological age and included modules enriched for 'Translational elongation', 'Cytolysis' and 'DNA metabolic process'. In an independent study of 3535 individuals, four of five modules consistently associated with chronological age, underpinning the robustness of the approach. We found three of five modules to be significantly enriched with aging-related genes, as defined by the GenAge database, and association with prospective survival at high ages for one of the modules including ASF1A. The hereby-detected age-associated and consistently coexpressed PPI modules therefore may provide a molecular basis for future research into mechanisms underlying human aging.
- Published
- 2014
- Full Text
- View/download PDF
4. Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene
- Author
-
Luo, XJ, Li, M, Huang, L, Steinberg, S, Mattheisen, M, Liang, G, Donohoe, G, Shi, Y, Chen, C, Yue, W, Alkelai, A, Lerer, B, Li, Z, Yi, Q, Rietschel, M, Cichon, S, Collier, DA, Tosato, S, Suvisaari, J, Rujescu, D, Golimbet, V, Silagadze, T, Durmishi, N, Milovancevic, MP, Stefansson, H, Schulze, TG, Nöthen, MM, Lyne, R, Morris, DW, Gill, M, Corvin, A, Zhang, D, Dong, Q, Moyzis, RK, Stefansson, K, Sigurdsson, E, Hu, F, SCZ Consortium36, Su, B, Gan, L, and College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou, China [2] Department of Ophthalmology and Flaum Eye Institute, University of Rochester, Rochester, NY, USA. 2Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA. 31] Nanchang University, Nanchang, China [2] Gannan Medical University, Ganzhou, China [3] Jiangxi Provincial People's Hospital, Nanchang, China. 4deCODE Genetics, Reykjavik, Iceland. 5Department of Biomedicine, Aarhus University, Aarhus C, Denmark. 6College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou, China. 7Neuropsychiatric Genetics Group and Department of Psychiatry, Institute of Molecular Medicine and Trinity College Institute of Neuroscience, Trinity College Dublin, St James Hospital, Dublin, Ireland. 8Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China. 9Department of Psychology and Social Behavior, University of California, Irvine, CA, USA. 101] Institute of Mental Health, Peking University, Beijing, China [2] Key Laboratory of Mental Health, Ministry of Health (Peking University), Beijing, China. 11Department of Psychiatry, Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 12Department of Psychiatry, the First Teaching Hospital of Xinjiang Medical University, Urumqi, China. 13Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Mannheim, Mannheim, Germany. 14Department of Genomics, Life and Brain Center, and Institute of Human Genetics, University of Bonn, Bonn, Germany. 151] Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College, London, UK [2] Eli Lilly and Co. Ltd, Erl Wood Manor, Surrey, UK. 16Section of Psychiatry, University of Verona, Verona, Italy. 17Mental Health and Substance Abuse Services, National Institute for Health and Welfare THL, Helsinki, Finland. 181] Division of Molecular and Clinical Neurobiology, Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany [2] Department of Psychiatry, University of Halle-Wittenberg, Halle, Germany. 19Mental Health Research Center, Russian Academy of Medical Sciences, Moscow, Russia. 20Department of Psychiatry and Drug Addiction, Tbilisi State Medical University (TSMU), Tbilisi, Georgia. 21Department of Child and Adolescent Psychiatry, University of Skopje, Skopje, Macedonia. 22Medical Faculty, University of Belgrade, Belgrade, Serbia. 23Department of Psychiatry and Psychotherapy, University Medical Center Georg-August-Universität, Goettingen, Germany. 24State Key Laboratory of Cognitive Neuroscience and Learning, Beijing Normal University, Beijing, China. 25Department of Biological Chemistry, University of California, Irvine, CA, USA. 261] deCODE Genetics, Reykjavik, Iceland [2] School of Medicine, University of Iceland, Reykjavik, Iceland. 271] School of Medicine, University of Iceland, Reykjavik, Iceland [2] Department of Psychiatry, National University Hospital, Reykjavik, Iceland. 28Affiliated Eye Hospital of Nanchang University, Nanchang, China. 29State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
- Subjects
Pathogenesis ,protein-protein interaction ,0302 clinical medicine ,Cognition ,Gene expression ,Genamengi ,Databases, Genetic ,Protein Interaction Maps ,European Continental Ancestry Group/genetics ,Psychotic Disorders/genetics ,CAMKK2 ,Schizophrenic Psychology ,Genetics ,0303 health sciences ,Brain ,Chromosome Mapping ,Polymorphism, Single Nucleotide/genetics ,Psychiatry and Mental health ,Geðsjúkdómar ,Personality ,Genotype ,Schizophrenia (object-oriented programming) ,Down-Regulation ,Calcium-Calmodulin-Dependent Protein Kinase Kinase ,Single-nucleotide polymorphism ,Calcium-Calmodulin-Dependent Protein Kinase ,Biology ,eQTL ,Polymorphism, Single Nucleotide ,White People ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Asian People ,Geðklofi ,Personality/genetics ,Kinase/metabolism ,expression ,SNP ,Brain/metabolism ,Humans ,Genetic Predisposition to Disease ,Asian Continental Ancestry Group/genetics ,Allele ,Molecular Biology ,Gene ,association ,schizophrenia ,Alleles ,030304 developmental biology ,Arfgengi ,Kinase/genetics ,Schizophrenia/genetics ,Case-Control Studies ,Protein Interaction Maps/genetics ,030217 neurology & neurosurgery ,Chromosomes, Human, Pair 17 ,Genome-Wide Association Study - Abstract
To access publisher's full text version of this article click on the hyperlink at the bottom of the page Genes that are differentially expressed between schizophrenia patients and healthy controls may have key roles in the pathogenesis of schizophrenia. We analyzed two large-scale genome-wide expression studies, which examined changes in gene expression in schizophrenia patients and their matched controls. We found calcium/calmodulin (CAM)-dependent protein kinase kinase 2 (CAMKK2) is significantly downregulated in individuals with schizophrenia in both studies. To seek the potential genetic variants that may regulate the expression of CAMKK2, we investigated the association between single-nucleotide polymorphisms (SNPs) within CAMKK2 and the expression level of CAMKK2. We found one SNP, rs1063843, which is located in intron 17 of CAMKK2, is strongly associated with the expression level of CAMKK2 in human brains (P=1.1 × 10(-6)) and lymphoblastoid cell lines (the lowest P=8.4 × 10(-6)). We further investigated the association between rs1063843 and schizophrenia in multiple independent populations (a total of 130 623 subjects) and found rs1063843 is significantly associated with schizophrenia (P=5.17 × 10(-5)). Interestingly, we found the T allele of rs1063843, which is associated with lower expression level of CAMKK2, has a higher frequency in individuals with schizophrenia in all of the tested samples, suggesting rs1063843 may be a causal variant. We also found that rs1063843 is associated with cognitive function and personality in humans. In addition, protein-protein interaction (PPI) analysis revealed that CAMKK2 participates in a highly interconnected PPI network formed by top schizophrenia genes, which further supports the potential role of CAMKK2 in the pathogenesis of schizophrenia. Taken together, these converging lines of evidence strongly suggest that CAMKK2 may have pivotal roles in schizophrenia susceptibility. National Natural Science Foundation of China/81271006/ 81060081 Hangzhou City Health Science Foundation/20120633B01 Jiangxi Provincial Natural Science Foundation/2010GZY0089/20114BAB215006 Natural Science Foundation of China/U1202225/81130022/ 81272302/31000553 863 Program 2012AA02A515 EU/HEALTH-2011-286213 HEALTH-F2-2009-223423 111 Project of the Ministry of Education of China/B07008 Israel Science Foundation info:eu-repo/grantAgreement/EC/FP7/286213
- Published
- 2014
- Full Text
- View/download PDF
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.