المؤلفون: Markus Zweckstetter, King Faisal Yambire, Niels Denkert, Claudia Steinem, Nelli Teske, Daryna Tarasenko, Michael Meinecke, Ira Milosevic, Indrani Mukherjee, Garima Jaipuria, Benjamin Kroppen

المصدر: Cellular and Molecular Life Sciences
Cellular and molecular life sciences 78(5), 2355-2370 (2021). doi:10.1007/s00018-020-03647-z

مصطلحات موضوعية: Phosphatidylinositol 4,5-Diphosphate, ENTH domain, Epsin, Reconstitution of membrane dynamics, 0302 clinical medicine, epsin, metabolism [Phosphatidylinositol 4,5-Diphosphate], 0303 health sciences, Chemistry, ultrastructure [Cell Membrane], metabolism [Clathrin], metabolism [Membrane Lipids], Endocytosis, Clathrin-mediated endocytosis, genetics [Membrane Proteins], Protein Transport, Membrane, Membrane curvature, Molecular Medicine, Original Article, genetics [Adaptor Proteins, Vesicular Transport], metabolism [Adaptor Proteins, Vesicular Transport], Protein Binding, genetics [Binding Sites], chemistry [Cell Membrane], metabolism [Cell Membrane], Protein–protein interaction, Membrane Lipids, 03 medical and health sciences, Cellular and Molecular Neuroscience, Protein Domains, chemistry [Adaptor Proteins, Vesicular Transport], Humans, chemistry [Membrane Proteins], ddc:610, Membrane dynamics, Molecular Biology, 030304 developmental biology, Pharmacology, Binding Sites, Cell Membrane, Membrane Proteins, Cell Biology, Receptor-mediated endocytosis, chemistry [Membrane Lipids], Clathrin, Microscopy, Electron, Adaptor Proteins, Vesicular Transport, Membrane protein, Mutation, Biophysics, metabolism [Membrane Proteins], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299604b0231580d1487db82e8f61580bTest
https://doi.org/10.1007/s00018-020-03647-zTest

المؤلفون: Galina Apostolova, Isabella Cera, Patrick Feurle, Andre Fischer, Georg Dechant, Derek W. Morris, Andreas Abentung, Aodán Laighneach, Nico Wahl, Simon Sprenger, Michael Bucher, Eduard Stefan, Laura Whitton, David Teis, Cornelia Ablinger

المصدر: The EMBO journal 40(3), e103701 (2021). doi:10.15252/embj.2019103701
The EMBO Journal

مصطلحات موضوعية: Scaffold protein, Male, Cell Plasticity, human cognitive ability, metabolism [Endosomal Sorting Complexes Required for Transport], metabolism [Hippocampus], chemistry [Nuclear Proteins], Hippocampus, Chromatin, Epigenetics, Genomics & Functional Genomics, neuronal activity, Mice, 0302 clinical medicine, Cognition, Gene expression, Premovement neuronal activity, Gene Regulatory Networks, genetics [Schizophrenia], metabolism [Transcription Factors], Membrane & Intracellular Transport, metabolism [Nuclear Envelope], Cells, Cultured, Neurons, 0303 health sciences, General Neuroscience, chemistry [Transcription Factors], genetics [Matrix Attachment Region Binding Proteins], Nuclear Proteins, genetics [Nuclear Proteins], Articles, nuclear envelope, genetics [Transcription Factors], metabolism [Intellectual Disability], Chromatin, genetics [Membrane Proteins], Schizophrenia, metabolism [Neurons], metabolism [Schizophrenia], metabolism [Nuclear Proteins], Vacuolar Proton-Translocating ATPases, Nuclear Envelope, Biology, Article, General Biochemistry, Genetics and Molecular Biology, metabolism [Vacuolar Proton-Translocating ATPases], chemistry [Matrix Attachment Region Binding Proteins], 03 medical and health sciences, SATB2, Intellectual Disability, ddc:570, medicine, Inner membrane, Animals, Humans, chemistry [Membrane Proteins], metabolism [Cell Nucleus], Molecular Biology, Gene, 030304 developmental biology, Cell Nucleus, Endosomal Sorting Complexes Required for Transport, General Immunology and Microbiology, Mechanism (biology), Membrane Proteins, Matrix Attachment Region Binding Proteins, medicine.disease, cytology [Hippocampus], metabolism [Matrix Attachment Region Binding Proteins], Mutation, cytology [Neurons], ATPases Associated with Diverse Cellular Activities, chromatin, genetics [Intellectual Disability], metabolism [ATPases Associated with Diverse Cellular Activities], Neuroscience, 030217 neurology & neurosurgery, metabolism [Membrane Proteins], Transcription Factors, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6c12f384e7aa85602f7c65d2d82289Test
https://pub.dzne.de/record/155832Test

المؤلفون: Martin H. Schludi, Markus Damme, Wolfgang Wurst, Matthias Brendel, Dieter Edbauer, Katrin Fellerer, Anja Capell, Benedikt Wefers, Johannes Gnörich, Georg Werner, Christian Haass, Karin Wind

المصدر: EMBO reports 21(10), 19 (2020). doi:10.15252/embr.202050241
EMBO Reports
EMBO Rep. 21:e50241 (2020)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, TDP-43, Nerve Tissue Proteins, Biology, Biochemistry, Article, 03 medical and health sciences, Mice, genetics [Progranulins], 0302 clinical medicine, Progranulins, Downregulation and upregulation, Ftd, Neurodegeneration, Progranulin, Tdp-43, Tmem106b, ddc:570, Gene expression, mental disorders, Genetics, medicine, progranulin, Animals, Humans, Molecular Biology of Disease, Molecular Biology, Gene knockout, Loss function, 030304 developmental biology, Mice, Knockout, 0303 health sciences, genetics [Intercellular Signaling Peptides and Proteins], neurodegeneration, Membrane Proteins, FTD, Frontotemporal lobar degeneration, Articles, medicine.disease, TDP‐43, genetics [Membrane Proteins], Proteostasis, TMEM106B, Intercellular Signaling Peptides and Proteins, genetics [Frontotemporal Lobar Degeneration], Frontotemporal Lobar Degeneration, Haploinsufficiency, Lysosomes, 030217 neurology & neurosurgery, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df22da9d1bf1034c18000cc5bb17bb30Test
https://pub.dzne.de/record/154374Test

المؤلفون: Franz Hagn, Kai Schlepckow, Bettina Brunner, Harald Steiner, Andrea Steiner, Christian Haass

المصدر: The EMBO journal 39(20), e104247 (2020). doi:10.15252/embj.2019104247
The EMBO Journal

مصطلحات موضوعية: Protein Conformation, alpha-Helical, chemistry [Membrane Glycoproteins], Magnetic Resonance Spectroscopy, genetics [Amyloid Precursor Protein Secretases], genetics [Alzheimer Disease], metabolism [Microglia], 0302 clinical medicine, genetics [Membrane Glycoproteins], Membrane region, Structural Biology, Risk Factors, genetics [Adaptor Proteins, Signal Transducing], TREM2, genetics [Receptors, Immunologic], Receptors, Immunologic, Receptor, chemistry.chemical_classification, 0303 health sciences, Membrane Glycoproteins, General Neuroscience, Circular Dichroism, metabolism [Receptors, Immunologic], Articles, dynamics, Amino acid, ddc, Molecular Docking Simulation, Transmembrane domain, genetics [Membrane Proteins], Ectodomain, chemistry [Receptors, Immunologic], Microglia, metabolism [Alzheimer Disease], Signal Transduction, Intramembrane protease, Biology, Molecular Dynamics Simulation, Cleavage (embryo), genetics [Signal Transduction], General Biochemistry, Genetics and Molecular Biology, Article, metabolism [Cell Membrane], 03 medical and health sciences, metabolism [Adaptor Proteins, Signal Transducing], Protein Domains, Alzheimer Disease, ddc:570, Humans, chemistry [Membrane Proteins], structure, Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, General Immunology and Microbiology, Cell Membrane, enzymology [Alzheimer Disease], Membrane Proteins, Post-translational Modifications, Proteolysis & Proteomics, chemistry [Adaptor Proteins, Signal Transducing], NMR, metabolism [Amyloid Precursor Protein Secretases], HEK293 Cells, chemistry, Mutation, biology.protein, Biophysics, Amyloid Precursor Protein Secretases, metabolism [Membrane Glycoproteins], 030217 neurology & neurosurgery, metabolism [Membrane Proteins], intramembrane protease, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336001d0982d8a4fa0349c4e2f1ac011Test

المؤلفون: Larissa Haertle, Cécile Cieuta-Walti, Tobias Müller, André Mégarbané, Per Hoffmann, Steffi G. Riedel-Heller, Daniel L. A. van de Hove, Thomas Haaf, Nady El Hajj, Marcus Dittrich, Michael Wagner, Sophie Durand, Renzo J. M. Riemens, Mathilde Roche, Roy Lardenoije, Clotilde Mircher, Anna Maierhofer, Aimé Ravel, Martin Scherer, Alfredo Ramirez, Markus Leber, Samantha Stora

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, Promovendi MHN

المصدر: Clinical Epigenetics
Clinical epigenetics 11(1), 195 (2019). doi:10.1186/s13148-019-0787-x
Clinical epigenetics, 11(1):195. BioMed Central Ltd

مصطلحات موضوعية: Oncology, Epigenomics, Male, Trisomy 21, Down syndrome, Intellectual disability, genetics [Amyloid Precursor Protein Secretases], CHILDREN, genetics [Alzheimer Disease], Epigenesis, Genetic, genetics [ADAM10 Protein], ADAM10 Protein, Infinium Methylation EPIC arrays, 0302 clinical medicine, Cognition, Germany, methods [Epigenomics], Senile plaques, DOWN-SYNDROME, Longitudinal Studies, Prospective Studies, Cognitive decline, Genetics (clinical), 0303 health sciences, DNA methylation, DEMENTIA, diagnosis [Alzheimer Disease], Alzheimer's disease, Alzheimer’s disease, Cognitive function, Trisomy, genetics [Membrane Proteins], Female, Adult, medicine.medical_specialty, IMMUNITY, 03 medical and health sciences, Young Adult, Alzheimer Disease, Internal medicine, Genetics, medicine, genetics [Down Syndrome], Dementia, Humans, Epigenetics, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, METAANALYSIS, 030304 developmental biology, RECEPTOR, business.industry, Research, Membrane Proteins, DNA Methylation, medicine.disease, Differentially methylated regions, Early Diagnosis, Amyloid Precursor Protein Secretases, business, 030217 neurology & neurosurgery, EPIGENETIC DYSREGULATION, Developmental Biology, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2527d41481b05af1b4de175eeb3387Test
https://pubmed.ncbi.nlm.nih.gov/31843015Test

المؤلفون: Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng

المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.

المصدر: Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics

مصطلحات موضوعية: Male, Embryo, Nonmammalian, MFN2, Muscle Proteins, IMMT protein, human, DOA, genetics [Muscle Proteins], medicine.disease_cause, Animals, Genetically Modified, pathology [Optic Atrophy, Autosomal Dominant], metabolism [Optic Atrophy, Autosomal Dominant], 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, genetics [Phosphate Transport Proteins], genetics [Exome], Phosphate Transport Proteins, Exome, metabolism [Zebrafish], genetics [Genetic Predisposition to Disease], embryology [Embryo, Nonmammalian], Zebrafish, Genetics, 0303 health sciences, Mutation, Microscopy, Confocal, biology, Pedigree, genetics [Membrane Proteins], xonal peripheral neuropathy, mitochondrial fusion, Mitochondrial Membranes, COS Cells, Female, genetics [Mitochondrial Proteins], RNA Interference, genetics [Charcot-Marie-Tooth Disease], Protein Binding, UGO1 protein, S cerevisiae, metabolism [Embryo, Nonmammalian], Saccharomyces cerevisiae Proteins, Dominant optic atrophy, Charcot-Marie-Tooth type 2, CMT2, metabolism [Muscle Proteins], genetics [Optic Atrophy, Autosomal Dominant], metabolism [Phosphate Transport Proteins], Article, ultrastructure [Embryo, Nonmammalian], metabolism [Mitochondrial Proteins], Mitochondrial Proteins, 03 medical and health sciences, Atrophy, Microscopy, Electron, Transmission, ddc:570, Optic Atrophy, Autosomal Dominant, metabolism [Mitochondrial Membranes], medicine, Animals, Humans, Inner membrane, Genetic Predisposition to Disease, Hereditary Neurodegenerative Disorder, genetics [Saccharomyces cerevisiae Proteins], 030304 developmental biology, Membrane Proteins, Sequence Analysis, DNA, metabolism [Saccharomyces cerevisiae Proteins], biology.organism_classification, medicine.disease, eye diseases, HEK293 Cells, metabolism [Charcot-Marie-Tooth Disease], Membrane protein, embryology [Zebrafish], hereditary neurodegenerative disorder, metabolism [Membrane Proteins], 030217 neurology & neurosurgery, SLC25A46 protein, human

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c99761b28161ae30b9a283860a0ba15Test
https://doi.org/10.1038/ng.3354Test

المؤلفون: Michel G. Nivard, Stefan Bonn, Hannelore Ehrenreich, Stephan Ripke, Casper A.P. Burik, Martin Begemann, Philipp Koellinger, Ronald de Vlaming, Vikas Bansal, Richard Karlsson Linnér, Aysu Okbay, Marina Mitjans, Cornelius A. Rietveld

المساهمون: Applied Economics, Economics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications
Nature Communications, 9:3078. Nature Publishing Group
Nature Communications, 9(1):3078, 1-12. Nature Publishing Group
Bansal, V, Mitjans, M, Burik, C A P, Linnér, R K, Okbay, A, Rietveld, C A, Begemann, M, Bonn, S, Ripke, S, de Vlaming, R, Nivard, M G, Ehrenreich, H & Koellinger, P D 2018, ' Genome-wide association study results for educational attainment aid in identifying genetic heterogeneity of schizophrenia ', Nature Communications, vol. 9, no. 1, 3078, pp. 1-12 . https://doi.org/10.1038/s41467-018-05510-zTest
Nature Communications 9(1), 3078 (2018). doi:10.1038/s41467-018-05510-z

مصطلحات موضوعية: Male, 0301 basic medicine, Linkage disequilibrium, Candidate gene, Bipolar Disorder, General Physics and Astronomy, Genome-wide association study, genetics [Cognition Disorders], Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, genetics [Schizophrenia], SLITRK1 protein, human, lcsh:Science, genetics [Nerve Tissue Proteins], Genetics, 0303 health sciences, Multidisciplinary, Forkhead Transcription Factors, Middle Aged, SLITRK1, genetics [Membrane Proteins], Phenotype, Schizophrenia, genetics [Forkhead Transcription Factors], Educational Status, Female, ddc:500, SDG 4 - Quality Education, Adult, Adolescent, Science, Concordance, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, mental disorders, medicine, Humans, Bipolar disorder, Allele frequency, Aged, 030304 developmental biology, Models, Genetic, Genetic heterogeneity, Assortative mating, Reproducibility of Results, Membrane Proteins, General Chemistry, medicine.disease, FOXO6 protein, human, 030104 developmental biology, lcsh:Q, Cognition Disorders, genetics [Bipolar Disorder], 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82934abe3946773115ae02f20db906bTest

المؤلفون: Anna Tochowicz, Klaus Richter, Hideaki Nagase, Wolfram Bode, Robert Visse, Klaus Maskos, Richard Evans, Peter Goettig, Noriko Ito, Yoshifumi Itoh, Daniel Franke, Ralf Palmisano, Yasuyuki Shitomi, Dmitri I. Svergun

المصدر: The journal of biological chemistry 286, 7587-7600 (2011). doi:10.1074/jbc.M110.178434
The Journal of Biological Chemistry

مصطلحات موضوعية: Dimer, Matrix (biology), Matrix metalloproteinase, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Protein structure, Hemopexin, Chlorocebus aethiops, 0303 health sciences, Crystallography, metabolism [Matrix Metalloproteinase 14], Chemistry, MMP14 protein, human, Extracellular Matrix, genetics [Membrane Proteins], physiology [Enzyme Activation], chemistry [Matrix Metalloproteinase 14], 030220 oncology & carcinogenesis, COS Cells, Dimerization, chemistry [Hemopexin], Cell Surface Enzymes, Stereochemistry, enzymology [Extracellular Matrix], Cell Migration, genetics [Matrix Metalloproteinase 14], genetics [Hemopexin], Cercopithecus aethiops, Structure-Activity Relationship, 03 medical and health sciences, ddc:570, Hydrolase, Matrix Metalloproteinase 14, Animals, Humans, Structure–activity relationship, chemistry [Membrane Proteins], Matrix Metalloproteinase, Molecular Biology, 030304 developmental biology, Membrane Proteins, Cell Biology, Protease, Protein Structure, Tertiary, Enzyme Activation, Solubility, Membrane protein, Mutagenesis, Enzymology, metabolism [Hemopexin], metabolism [Membrane Proteins], HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326609ab62d10c9d41e7d089cdcb19c8Test
https://doi.org/10.1074/jbc.m110.178434Test

المؤلفون: Neill R. Graff-Radford, Caroline S. Widdowson, John Hardy, Simon Lovestone, Stefan Schreiber, Ana Frank-García, Amy Gerrish, Kevin Mayo, Alexandra Stretton, Michael John Owen, Minerva M. Carrasquillo, Seth Love, Jade Chapman, Vincent Chouraki, Monique M.B. Breteler, Francesco Panza, Emma R L C Vardy, Ronald C. Petersen, Harald Hampel, S. Nicolhaus, Lenore J. Launer, Michelle K. Lupton, Eckart Rüther, A. David Smith, David C. Rubinsztein, Rebecca Sims, Gill Livingston, Diana Zelenika, Simon Mead, Martin N. Rossor, Hilkka Soininen, Christine Van Broeckhoven, Kristel Sleegers, Thorlakur Jonsson, M. Arfan Ikram, Helen Beaumont, Michael Conlon O'Donovan, Federico Licastro, Sudha Seshadri, Alexander Richards, Nick C. Fox, Markus M. Nöthen, Claudine Berr, T. Feulner, Benedetta Nacmias, Carlos Cruchaga, Peter Passmore, Oscar L. Lopez, Julie Williams, Matthias Riemenschneider, Florence Pasquier, John Gallacher, Didier Hannequin, Sigrid Botne Sando, Jens Wiltfang, Charlene Thomas, Gabriele Siciliano, Maria Barcikowska, Mikko Hiltunen, Carol Brayne, Dobril Ivanov, Anita L. DeStefano, Bernadette McGuinness, Norman Klopp, Gordon K. Wilcock, Aoibhinn Lynch, Wolfgang Maier, Peter Holmans, H.-Erich Wichmann, Giorgio Annoni, Beatrice Arosio, Alison Goate, Sigurbjorn Bjornsson, Karl-Heinz Jöckel, Dan Rujescu, Hugh Gurling, Nigel M. Hooper, Clive Holmes, Andrew McQuillin, Patricia Friedrich, John Powell, Rhian Gwilliam, R. Heun, Jacques Epelbaum, Isabella Heuser, Magda Tsolaki, Dennis W. Dickson, Alberto Pilotto, Stephen Todd, Dominique Campion, Michael Krawczak, Jan O. Aasly, Olivier Hanon, Patrick G. Kehoe, Johannes Kornhuber, Marc Delepine, Peter Paul De Deyn, Britta Schürmann, Brian A. Lawlor, Christophe Tzourio, Richard Abraham, Petra Nowotny, Jean-François Dartigues, Heike Kölsch, Michelangelo Mancuso, Marian L. Hamshere, Zbigniew K. Wszolek, Paola Piccardi, Paolo Bosco, Jean-Charles Lambert, Denise Harold, Frank Jessen, Palmi V. Jonsson, Paola Bossù, Paul Hollingworth, Jon Snaedal, Michael Gill, Onofre Combarros, David M. A. Mann, John C. Morris, Annette L. Fitzpatrick, Christopher Shaw, Alexis Brice, Philippe Amouyel, Elio Scarpini, Lesley Jones, Sebastiaan Engelborghs, Daniela Galimberti, Vincenzo Solfrizzi, V. Shane Pankratz, John Collinge, María J. Bullido, Kristelle Brown, Nicholas Bass, Andrew B. Singleton, Jaspreet Singh Pahwa, Kari Stefansson, Lutz Frölich, Steven G. Younkin, Ignacio Mateo, Annick Alpérovitch, Benjamin Genier-Boley, Ina Giegling, Caterina Riehle, Kimberley Dowzell, Mark Lathrop, Hreinn Stefansson, Sandro Sorbi, Rita Guerreiro, Thomas W. Mühleisen, Karolien Bettens, Michael Hüll, Martin Dichgans, Petroula Proitsi, Panagiotis Deloukas, Valentina Moskvina, Cornelia M. van Duijn, Donald Warden, Victoria Alvarez, Eliecer Coto, Kevin Morgan, Susanne Moebus, Ammar Al-Chalabi, Elisa Porcellini, Stefan Wagenpfeil, Hendrik van den Bussche, John S. K. Kauwe, Stacy Steinberg, David Craig, Nicola Jones, Manuel Mayhaus, Davide Seripa

المساهمون: Neurology, NCA - Neurodegeneration, HOLLINGWORTH P, HAROLD D, SIMS R, GERRISH A, LAMBERT JC, CARRASQUILLO MM, ABRAHAM R, HAMSHERE ML, PAHWA JS, MOSKVINA V, DOWZELL K, JONES N, STRETTON A, THOMAS C, RICHARDS A, IVANOV D, WIDDOWSON C, CHAPMAN J, LOVESTONE S, POWELL J, PROITSI P, LUPTON MK, BRAYNE C, RUBINSZTEIN DC, GILL M, LAWLOR B, LYNCH A, BROWN KS, PASSMORE PA, CRAIG D, MCGUINNESS B, TODD S, HOLMES C, MANN D, SMITH AD, BEAUMONT H, WARDEN D, WILCOCK G, LOVE S, KEHOE PG, HOOPER NM, VARDY ER, HARDY J, MEAD S, FOX NC, ROSSOR M, COLLINGE J, MAIER W, JESSEN F, RÜTHER E, SCHÜRMANN B, HEUN R, KÖLSCH H, VAN DEN BUSSCHE H, HEUSER I, KORNHUBER J, WILTFANG J, DICHGANS M, FRÖLICH L, HAMPEL H, GALLACHER J, HÜLL M, RUJESCU D, GIEGLING I, GOATE AM, KAUWE JS, CRUCHAGA C, NOWOTNY P, MORRIS JC, MAYO K, SLEEGERS K, BETTENS K, ENGELBORGHS S, DE DEYN PP, VAN BROECKHOVEN C, LIVINGSTON G, BASS NJ, GURLING H, MCQUILLIN A, GWILLIAM R, DELOUKAS P, AL-CHALABI A, SHAW CE, TSOLAKI M, SINGLETON AB, GUERREIRO R, MÜHLEISEN TW, NÖTHEN MM, MOEBUS S, JÖCKEL KH, KLOPP N, WICHMANN HE, PANKRATZ VS, SANDO SB, AASLY JO, BARCIKOWSKA M, WSZOLEK ZK, DICKSON DW, GRAFF-RADFORD NR, PETERSEN RC, ALZHEIMER'S DISEASE NEUROIMAGING INITIATIVE, VAN DUIJN CM, BRETELER MM, IKRAM MA, DESTEFANO AL, FITZPATRICK AL, LOPEZ O, LAUNER LJ, SESHADRI S, CHARGE CONSORTIUM, BERR C, CAMPION D, EPELBAUM J, DARTIGUES JF, TZOURIO C, ALPÉROVITCH A, LATHROP M, EADI1 CONSORTIUM, FEULNER TM, FRIEDRICH P, RIEHLE C, KRAWCZAK M, SCHREIBER S, MAYHAUS M, NICOLHAUS S, WAGENPFEIL S, STEINBERG S, STEFANSSON H, STEFANSSON K, SNAEDAL J, BJÖRNSSON S, JONSSON PV, CHOURAKI V, GENIER-BOLEY B, HILTUNEN M, SOININEN H, COMBARROS O, ZELENIKA D, DELEPINE M, BULLIDO MJ, PASQUIER F, MATEO I, FRANK-GARCIA A, PORCELLINI E, HANON O, COTO E, ALVAREZ V, BOSCO P, SICILIANO G, MANCUSO M, PANZA F, SOLFRIZZI V, NACMIAS B, SORBI S, BOSSÙ P, PICCARDI P, AROSIO B, ANNONI G, SERIPA D, PILOTTO A, SCARPINI E, GALIMBERTI D, BRICE A, HANNEQUIN D, LICASTRO F, JONES L, HOLMANS PA, JONSSON T, RIEMENSCHNEIDER M, MORGAN K, YOUNKIN SG, OWEN MJ, O'DONOVAN M, AMOUYEL P, WILLIAMS J, Epidemiology, Radiology & Nuclear Medicine, Clinical sciences, Pathologic Biochemistry and Physiology, Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J, Carrasquillo, M, Abraham, R, Hamshere, M, Pahwa, J, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M, Brayne, C, Rubinsztein, D, Gill, M, Lawlor, B, Lynch, A, Brown, K, Passmore, P, Craig, D, Mcguinness, B, Todd, S, Holmes, C, Mann, D, Smith, A, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P, Hooper, N, Vardy, E, Hardy, J, Mead, S, Fox, N, Rossor, M, Collinge, J, Maier, W, Jessen, F, Rüther, E, Schürmann, B, Heun, R, Kölsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frölich, L, Hampel, H, Gallacher, J, Hüll, M, Rujescu, D, Giegling, I, Goate, A, Kauwe, J, Cruchaga, C, Nowotny, P, Morris, J, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P, Van Broeckhoven, C, Livingston, G, Bass, N, Gurling, H, Mcquillin, A, Gwilliam, R, Deloukas, P, Al Chalabi, A, Shaw, C, Tsolaki, M, Singleton, A, Guerreiro, R, Mühleisen, T, Nöthen, M, Moebus, S, Jöckel, K, Klopp, N, Wichmann, H, Pankratz, V, Sando, S, Aasly, J, Barcikowska, M, Wszolek, Z, Dickson, D, Graff Radford, N, Petersen, R, van Duijn, C, Breteler, M, Ikram, M, Destefano, A, Fitzpatrick, A, Lopez, O, Launer, L, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J, Tzourio, C, Alpérovitch, A, Lathrop, M, Feulner, T, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snædal, J, Björnsson, S, Jonsson, P, Chouraki, V, Genier Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M, Pasquier, F, Mateo, I, Frank Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossù, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S, Owen, M, O'Donovan, M, Amouyel, P, Williams, J

المصدر: Nature genetics 43(5), 429-435 (2011). doi:10.1038/ng.803
Nature Genetics, 43(5), 429-435. Nature Publishing Group
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J-C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruether, E, Schuermann, B, Heun, R, Koelsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Froelich, L, Hampel, H, Gallacher, J, Huell, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muehleisen, T W, Noethen, M M, Moebus, S, Joeckel, K-H, Klopp, N, Wichmann, H-E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J-F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803Test
Nature genetics
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, Van Den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, Van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-35 . https://doi.org/10.1038/ng.803Test
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, de Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W & Graff-Radford, N R A O 2011, ' Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803Test

مصطلحات موضوعية: Male, ABCA7 protein, human, ATP-Binding Cassette Transporters/genetics, Sialic Acid Binding Ig-like Lectin 3, CD33, SORL1, Medizin, genetics [Alzheimer Disease], Adaptor Proteins, Signal Transducing/genetics, Disease, PICALM, ABCA7, Disease susceptibility, 0302 clinical medicine, genetics [Adaptor Proteins, Signal Transducing], Databases, Genetic, GWAS, GENE-EXPRESSION, Medicine(all), Aged, 80 and over, Genetics, 0303 health sciences, Alzheimer's disease, genetic predisposition, Receptor, EphA1, ALZHEIMER’S DISEASE, Antigens, CD/genetics, genetics [Receptor, EphA1], genetics [Membrane Proteins], Multigene Family, Female, genetics [Antigens, Differentiation, Myelomonocytic], APOE, Antigens, Differentiation, Myelomonocytic, Single-nucleotide polymorphism, Case-control studies, Cytoskeletal Proteins/genetics, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, CD33 protein, human, Alzheimer Disease, Antigens, CD, ddc:570, Humans, Genetic Predisposition to Disease, Membrane Proteins/genetics, CLUSTERIN, Aged, genetics [Cytoskeletal Proteins], Adaptor Proteins, Signal Transducing, 030304 developmental biology, Alzheimer Disease/genetics, Antigens, Differentiation, Myelomonocytic/genetics, Genetic Variation, Membrane Proteins, CD2-associated protein, genetics [Antigens, CD], Cytoskeletal Proteins, MS4A4E protein, human, Case-Control Studies, Susceptibility locus, biology.protein, ATP-Binding Cassette Transporters, Human medicine, genetics [ATP-Binding Cassette Transporters], aged, 80 and over, Receptor, EphA1/genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfea33b035eebd8e655803794b897217Test
https://doi.org/10.1038/ng.803Test

المؤلفون: Dirk W. Heinz, Hartmut H. Niemann, Maxim V. Petoukhov, Martine Moulin, Dmitri I. Svergun, Ermanno Gherardi, Michael Härtlein, Peter Timmins

المساهمون: Division of Structural Biology, Helmholtz Center for Infection Research, Inhoffenstrasse 7, D-38124 Braunschweig, Germany.

المصدر: Journal of molecular biology 377, 489-500 (2008). doi:10.1016/j.jmb.2008.01.027
Journal of Molecular Biology; Vol 377

مصطلحات موضوعية: Models, Molecular, receptor, Protein Data Bank (RCSB PDB), Immunoglobulin domain, Proto-Oncogene Mas, chemistry [Repressor Proteins], Receptor tyrosine kinase, small-angle scattering, Structural Biology, Cricetinae, Receptor, metabolism [Repressor Proteins], 0303 health sciences, biology, Small-angle X-ray scattering, Chemistry, neutron scattering, 030302 biochemistry & molecular biology, tyrosine kinase, Solutions, genetics [Membrane Proteins], Ectodomain, Hepatocyte growth factor, genetics [Bacterial Proteins], Protein Binding, medicine.drug, genetics [Listeria monocytogenes], chemistry [Bacterial Proteins], metabolism [Bacterial Proteins], Stereochemistry, CHO Cells, 03 medical and health sciences, Cricetulus, Bacterial Proteins, inlB protein, Listeria monocytogenes, complex formation, ddc:570, Scattering, Small Angle, medicine, Animals, chemistry [Membrane Proteins], rigid-body modeling, Protein Structure, Quaternary, Molecular Biology, 030304 developmental biology, Neutrons, Binding Sites, Ligand, X-Rays, Membrane Proteins, Listeria monocytogenes, metabolism [Listeria monocytogenes], Repressor Proteins, genetics [Repressor Proteins], chemistry [Listeria monocytogenes], Biophysics, biology.protein, methionine repressor protein, Bacteria, metabolism [Membrane Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9899cfd085762bd3866286fce0e837Test
https://doi.org/10.1016/j.jmb.2008.01.027Test