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1
المؤلفون: Yuko Fukata, Rosanna P. Sammons, Daniel Parthier, Masaki Fukata, Alexander B. Kowski, Dietmar Schmitz, Hans-Christian Kornau, Barbara Imbrosci, Jakob Kreye, Harald Prüss, Sarah Kurpjuweit, Alexander Stumpf
المصدر: Annals of neurology 87(3), 405-418 (2020). doi:10.1002/ana.25666
مصطلحات موضوعية: Male, 0301 basic medicine, cerebrospinal fluid [Encephalitis], antagonists & inhibitors [Intracellular Signaling Peptides and Proteins], Synaptic Transmission, Epitope, Mice, 0302 clinical medicine, Cells, Cultured, Mice, Knockout, Neurons, drug effects [Synaptic Transmission], biology, Limbic encephalitis, Intracellular Signaling Peptides and Proteins, Antibodies, Monoclonal, Middle Aged, physiology [Neurons], CA3 Region, Hippocampal, Isotype, Immunoglobulin Isotypes, physiology [CA3 Region, Hippocampal], Neurology, Monoclonal, cerebrospinal fluid [Hashimoto Disease], Encephalitis, Female, Antibody, Function and Dysfunction of the Nervous System, pharmacology [Autoantibodies], pharmacology [Antibodies, Monoclonal], Nerve Tissue Proteins, Hashimoto Disease, drug effects [ADAM Proteins], drug effects [Nerve Tissue Proteins], Affinity maturation, 03 medical and health sciences, immunology [Intracellular Signaling Peptides and Proteins], medicine, Animals, Humans, ddc:610, immunology [Encephalitis], Aged, Autoantibodies, cerebrospinal fluid [Antibodies, Monoclonal], Autoantibody, medicine.disease, Rats, immunology [Hashimoto Disease], ADAM Proteins, cerebrospinal fluid [Autoantibodies], 030104 developmental biology, Immunology, biology.protein, genetics [Intracellular Signaling Peptides and Proteins], Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Martina Schifferer, Ludovico Cantuti-Castelvetri, Susanne A. Schneider, Sabina Tahirovic, Andrew P. Lieberman, Jasmin König, Lina Dinkel, Silva Hećimović, Laura Sebastian Monasor, Tatiana Bremova-Ertl, Lea Vidatic, Alessio Colombo, Stephan A. Müller, Stefan F. Lichtenthaler, Michael Strupp, Mikael Simons
المصدر: Nature communications
Nature Communications 12(1), 1158 (2021). doi:10.1038/s41467-021-21428-5
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
Colombo, Alessio; Dinkel, Lina; Müller, Stephan A; Sebastian Monasor, Laura; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; König, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F; Strupp, Michael; Schneider, Susanne A; Tahirovic, Sabina (2021). Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nature Communications, 12(1), p. 1158. Springer Nature 10.1038/s41467-021-21428-5 <http://dx.doi.org/10.1038/s41467-021-21428-5>مصطلحات موضوعية: 0301 basic medicine, Proteomics, Male, Molecular biology, metabolism [Myelin Sheath], General Physics and Astronomy, metabolism [Microglia], Microgliosis, Mass Spectrometry, Myelin, Mice, 0302 clinical medicine, hemic and lymphatic diseases, Myelin Sheath, Cells, Cultured, Mice, Knockout, Multidisciplinary, Microglia, Chemistry, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Phenotype, 3. Good health, Cell biology, ddc, medicine.anatomical_structure, Cholesterol, Female, lipids (amino acids, peptides, and proteins), ddc:500, physiology [Phagocytosis], Niemann–Pick disease, metabolism [Intracellular Signaling Peptides and Proteins], congenital, hereditary, and neonatal diseases and abnormalities, Endosome, Science, Blotting, Western, 610 Medicine & health, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, metabolism [Niemann-Pick Disease, Type C], Immune system, Phagocytosis, Niemann-Pick C1 Protein, genetics [Niemann-Pick Disease, Type C], medicine, Animals, Humans, genetics [Phagocytosis], nutritional and metabolic diseases, Basic Medical Sciences, General Chemistry, medicine.disease, metabolism [Cholesterol], nervous system diseases, lipid trafficking, microglia, NPC, phagocytic impairment, proteome, Mice, Inbred C57BL, 030104 developmental biology, Neuroscience, genetics [Intracellular Signaling Peptides and Proteins], NPC1, methods [Proteomics], 030217 neurology & neurosurgery
وصف الملف: application/pdf
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3
المؤلفون: Atsushi Nambu, Makoto Sanbo, Xiumin Chen, Yuko Fukata, Harald Prüss, Hans-Christian Kornau, Hiroki Inahashi, Masumi Hirabayashi, Teppei Goto, Roger A. Nicoll, Yoko Hirano, Atsushi Yamagata, Satomi Chiken, Masaki Fukata, Shuya Fukai, Hiromi Sano
المصدر: Proceedings of the National Academy of Sciences of the United States of America 118(3), e2022580118-(2021). doi:10.1073/pnas.2022580118
Proceedings of the National Academy of Sciences of the United States of Americaمصطلحات موضوعية: 0301 basic medicine, Hippocampus, metabolism [Hippocampus], genetics [ADAM Proteins], Synaptic Transmission, pathology [Epilepsy], Epilepsy, Mice, 0302 clinical medicine, Postsynaptic potential, pathology [Brain], Adam22 protein, mouse, Gene Knock-In Techniques, AMPA receptor, Neural Cell Adhesion Molecules, genetics [Nerve Tissue Proteins], Multidisciplinary, Intracellular Signaling Peptides and Proteins, Brain, Biological Sciences, genetics [Membrane Proteins], NMDA receptor, ddc:500, genetics [Receptors, AMPA], genetics [Calcium-Binding Proteins], genetics [Synaptic Transmission], Lgi1 protein, mouse, Guanylate kinase, genetics [Epilepsy], transsynaptic nanocolumn, Nerve Tissue Proteins, prevention & control [Epilepsy], Neurotransmission, Biology, LGI1–ADAM22, Receptors, N-Methyl-D-Aspartate, 03 medical and health sciences, genetics [Shaker Superfamily of Potassium Channels], genetics [Receptors, N-Methyl-D-Aspartate], medicine, Animals, Humans, genetics [Neural Cell Adhesion Molecules], Receptors, AMPA, LRRTM4 protein, mouse, ADAM22, Calcium-Binding Proteins, Membrane Proteins, MAGUK, medicine.disease, Disease Models, Animal, ADAM Proteins, 030104 developmental biology, pathology [Hippocampus], nervous system, metabolism [Brain], Shaker Superfamily of Potassium Channels, epilepsy, genetics [Intracellular Signaling Peptides and Proteins], Nrxn1 protein, mouse, Neuroscience, genetics [Guanylate Kinases], Guanylate Kinases, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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4
المؤلفون: Moritz J. Frech, Katharina Huth, Jan Lukas, Maik Liedtke, Alexandra V Jürs, Andreas Hermann, Christin Völkner
المصدر: International Journal of Molecular Sciences
Volume 21
Issue 20
International journal of molecular sciences 21(20), 7667-(2020). doi:10.3390/ijms21207667
International Journal of Molecular Sciences, Vol 21, Iss 7667, p 7667 (2020)مصطلحات موضوعية: 0301 basic medicine, medicine.disease_cause, lcsh:Chemistry, metabolism [Catalase], 0302 clinical medicine, hemic and lymphatic diseases, genetics [Superoxide Dismutase], metabolism [Reactive Oxygen Species], Induced pluripotent stem cell, NPC1 protein, human, lcsh:QH301-705.5, Spectroscopy, Cells, Cultured, Neurons, chemistry.chemical_classification, iPSC, biology, Neurodegeneration, catalase, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Cell Differentiation, ROS, General Medicine, genetics [Catalase], cytology [Induced Pluripotent Stem Cells], SOD1, SOD2, Computer Science Applications, Cell biology, metabolism [Induced Pluripotent Stem Cells], Catalase, metabolism [Neurons], ddc:540, congenital, hereditary, and neonatal diseases and abnormalities, metabolism [Superoxide Dismutase], Induced Pluripotent Stem Cells, Article, Catalysis, Inorganic Chemistry, Superoxide dismutase, 03 medical and health sciences, metabolism [Niemann-Pick Disease, Type C], Niemann-Pick C1 Protein, genetics [Niemann-Pick Disease, Type C], medicine, Humans, Physical and Theoretical Chemistry, Molecular Biology, Reactive oxygen species, Superoxide Dismutase, Organic Chemistry, nutritional and metabolic diseases, medicine.disease, NPC1, Oxidative Stress, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, chemistry, cytology [Neurons], biology.protein, genetics [Intracellular Signaling Peptides and Proteins], Reactive Oxygen Species, 030217 neurology & neurosurgery, Oxidative stress
وصف الملف: application/pdf
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5
المؤلفون: Moritz J. Frech, Michael Rabenstein, Zhen Wang, Andreas Wree, Jiankai Luo, Xiao Feng, Anne Gläser, Martin Witt, Andreas Hermann, Fan Yang, Anja U Bräuer, Arndt Rolfs
المصدر: Cerebral cortex 30(3), 1465-1480 (2019). doi:10.1093/cercor/bhz179
مصطلحات موضوعية: Cognitive Neuroscience, media_common.quotation_subject, Stimulation, Mice, Transgenic, AMPA receptor, Receptors, Metabotropic Glutamate, metabolism [Receptors, Kainic Acid], 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Receptors, Kainic Acid, Niemann-Pick C1 Protein, medicine, Animals, metabolism [Calcium], Receptors, AMPA, ddc:610, Internalization, Lipid raft, Late endosome, Cells, Cultured, 030304 developmental biology, media_common, Neurons, 0303 health sciences, Chemistry, metabolism [Receptors, AMPA], Neurodegeneration, Intracellular Signaling Peptides and Proteins, medicine.disease, physiology [Neurons], Cell biology, nervous system, Metabotropic glutamate receptor, Metabotropic glutamate receptor 1, Calcium, lipids (amino acids, peptides, and proteins), genetics [Intracellular Signaling Peptides and Proteins], metabolism [Intracellular Signaling Peptides and Proteins], 030217 neurology & neurosurgery, metabolism [Receptors, Metabotropic Glutamate]
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6
المؤلفون: Amit Kawalia, Antonio del Sol, Tobias Luck, Per Hoffmann, Bart P. F. Rutten, Michael Wagner, Markus Leber, Roy Lardenoije, Muhammad Ali, Diego Mastroeni, Luca Kleineidam, Lars M. T. Eijssen, Wolfgang Maier, Steffi G. Riedel-Heller, René Hurlemann, Janou A. Y. Roubroeks, Frank Jessen, Adam Smith, Ehsan Pishva, Jonathan Mill, Alfredo Ramirez, Paul D. Coleman, Elaine Delvaux, Gunter Kenis, Daniel L.A. van den Hove, Rebecca G. Smith, Artemis Iatrou, Holger Wagner, Katie Lunnon
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, Promovendi MHN, Bioinformatica, MUMC+: MA Niet Med Staf Psychiatrie (9), MUMC+: MA Psychiatrie (3)
المصدر: Clinical Epigenetics
Clinical epigenetics, 11(1):164. BioMed Central Ltd
Clinical epigenetics 11(1), 164 (2019). doi:10.1186/s13148-019-0755-5مصطلحات موضوعية: Male, Oncology, genetics [Alzheimer Disease], Genome-wide association study, Disease, Receptors, Nicotinic, Epigenesis, Genetic, Pathogenesis, chemistry.chemical_compound, DNA hydroxymethylation, 0302 clinical medicine, blood [5-Methylcytosine], Age of Onset, Genetics (clinical), Aged, 80 and over, 0303 health sciences, DNA methylation, ROLES, metabolism [5-Methylcytosine], DEMENTIA, Intracellular Signaling Peptides and Proteins, Brain, Alzheimer's disease, Temporal Lobe, genetics [Oxytocin], OXYTOCIN, Blood, 5-Methylcytosine, Disease Progression, 5-HYDROXYMETHYLCYTOSINE, Female, Epigenetics, HEALTH, Alzheimer’s disease, genetics [Receptors, Nicotinic], medicine.medical_specialty, HYDROXYMETHYLATION, chemistry [Temporal Lobe], 03 medical and health sciences, Alzheimer Disease, Internal medicine, analysis [5-Methylcytosine], Genetics, medicine, Humans, Dementia, GLOBAL CHANGES, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, Middle temporal gyrus, Aged, 030304 developmental biology, Brain Chemistry, 5-Hydroxymethylcytosine, business.industry, Research, Epigenome, DNA Methylation, medicine.disease, chemistry, analogs & derivatives [5-Methylcytosine], COGNITION, genetics [Intracellular Signaling Peptides and Proteins], business, 030217 neurology & neurosurgery, Developmental Biology
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7
المؤلفون: Feng, Xiao, Cozma, Claudia, Pantoom, Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Völkner, Christin, Bauer, Claudia, Vogel, Florian, Bauer, Peter, Weiss, Frank U., Lerch, Markus M., Knospe, Anne-Marie, Hermann, Andreas, Frech, Moritz J., Luo, Jiankai, Rolfs, Arndt, Lukas, Jan
المصدر: International journal of molecular sciences 20(20), 5185 (2019). doi:10.3390/ijms20205185
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5185 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 20مصطلحات موضوعية: Models, Molecular, Genotype, diagnosis [Niemann-Pick Disease, Type C], Protein Conformation, CHO Cells, Article, lcsh:Chemistry, chemistry [Intracellular Signaling Peptides and Proteins], metabolism [Niemann-Pick Disease, Type C], Structure-Activity Relationship, Cricetulus, Gene Frequency, Niemann-Pick C1 Protein, genetics [Niemann-Pick Disease, Type C], lipid metabolism, Animals, Humans, Amino Acid Sequence, lcsh:QH301-705.5, Alleles, Cells, Cultured, Genetic Association Studies, Genetic Complementation Test, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Genetic Variation, Niemann-Pick Disease, Type C, metabolism [Cholesterol], variant of unknown significance, pharmacological chaperone, Cholesterol, Phenotype, lcsh:Biology (General), lcsh:QD1-999, ddc:540, lipids (amino acids, peptides, and proteins), genetics [Intracellular Signaling Peptides and Proteins], liver disease, metabolism [Intracellular Signaling Peptides and Proteins]
وصف الملف: application/pdf
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المؤلفون: Andreas Papassotiropoulos, Angela Heck, Hans-Jochen Heinze, Annette Milnik, Christian Vogler, Dominique J.-F. de Quervain
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication o
American journal of medical genetics / B 159B(8), 958-969 (2012). doi:10.1002/ajmg.b.32101مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, WWC1 protein, human, Memory, Episodic, Population, Single-nucleotide polymorphism, Genome-wide association study, Neuropsychological Tests, Audiology, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, 0302 clinical medicine, medicine, Humans, Learning, ddc:610, education, Episodic memory, Alleles, Genetics (clinical), Aged, 030304 developmental biology, Genetic association, Aged, 80 and over, 0303 health sciences, education.field_of_study, Working memory, Intracellular Signaling Peptides and Proteins, Middle Aged, Phosphoproteins, Psychiatry and Mental health, Memory, Short-Term, genetics [Phosphoproteins], genetics [Intracellular Signaling Peptides and Proteins], Female, Psychology, 030217 neurology & neurosurgery, Protein KIBRA, Genome-Wide Association Study
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9
المؤلفون: Anselmo Jiro Kamada, Telma Miyuki Oshiro, Alberto José da Silva Duarte, Sergio Crovella, Alessandra Pontillo, Martina Girardelli
المساهمون: Pontillo, Alessandra, T. M., Oshiro, Girardelli, Martina, A. J., Kamada, Crovella, Sergio, A. J., S.
المصدر: JAIDS Journal of Acquired Immune Deficiency Syndromes. 59:121-125
مصطلحات موضوعية: Male, genetics, Caspase 1, Inflammasomes, Interleukin-1beta, genetics, Adult, Apoptosis Regulatory Protein, HIV Infections, Pathogenesis, Gene Frequency, NLRC4, genetics, Interleukin-1beta, genetics, Pharmacology (medical), Genetics, NLRP1, Caspase 1, Intracellular Signaling Peptides and Proteins, genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, HIV Infection, Adaptor Proteins, virus diseases, Inflammasome, Single Nucleotide, Middle Aged, genetics, Brazil, CARD Signaling Adaptor Protein, Neoplasm Proteins, Infectious Diseases, Female, medicine.symptom, Brazil, medicine.drug, Adult, Genotype, NLR Proteins, genetics, Polymorphism, Single-nucleotide polymorphism, Inflammation, Biology, Polymorphism, Single Nucleotide, genetics, Carrier Protein, genetics, Male, Middle Aged, Neoplasm Protein, genetics, Intracellular Signaling Peptides and Protein, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, genetics, Calcium-Binding Protein, Gene, Adaptor Proteins, Signal Transducing, Innate immune system, Calcium-Binding Proteins, Signal Transducing, genetics, HIV-1, Humans, Inflammasome, CARD Signaling Adaptor Proteins, genetics, Adult, Apoptosis Regulatory Proteins, genetics, Brazil, CARD Signaling Adaptor Proteins, genetics, Calcium-Binding Proteins, genetics, Carrier Proteins, genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, HIV Infections, genetics, HIV-1, Humans, Inflammasomes, genetics, Intracellular Signaling Peptides and Proteins, genetics, Male, Middle Aged, Neoplasm Proteins, Adaptor Protein, Immunology, HIV-1, Apoptosis Regulatory Proteins, Carrier Proteins
وصف الملف: STAMPA
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10
المؤلفون: Nora Wender, Tim Bartels, Jan Hegermann, Konstanze F. Winklhofer, Christian Haass, Bettina Brunner, Frits Kamp, Anne Kathrin Lutz, Nicole Exner, Brigitte Nuscher, Armin Giese, Stefan Eimer, Klaus Beyer
المصدر: The EMBO journal 29(20), 3571-3589 (2010). doi:10.1038/emboj.2010.223
مصطلحات موضوعية: animal diseases, Protein Deglycase DJ-1, parkin protein, Mitochondrion, Membrane Fusion, Parkin, ultrastructure [Mitochondria], metabolism [alpha-Synuclein], metabolism [Protein Kinases], metabolism [Oncogene Proteins], genetics [Ubiquitin-Protein Ligases], Oncogene Proteins, Cell fusion, General Neuroscience, genetics [Protein Kinases], Neurodegeneration, Intracellular Signaling Peptides and Proteins, Parkinson Disease, metabolism [Caenorhabditis elegans], Immunohistochemistry, Mitochondria, Cell biology, mitochondrial fusion, PARK7 protein, human, genetics [alpha-Synuclein], alpha-Synuclein, genetics [Caenorhabditis elegans], PTEN-induced putative kinase, metabolism [Intracellular Signaling Peptides and Proteins], Vesicle fusion, Ubiquitin-Protein Ligases, metabolism [Parkinson Disease], PINK1, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, cytology [Caenorhabditis elegans], metabolism [Ubiquitin-Protein Ligases], ddc:570, medicine, Animals, Humans, Caenorhabditis elegans, Molecular Biology, General Immunology and Microbiology, Lipid bilayer fusion, genetics [Oncogene Proteins], metabolism [Mitochondria], medicine.disease, pathology [Parkinson Disease], nervous system diseases, nervous system, genetics [Intracellular Signaling Peptides and Proteins], physiology [Membrane Fusion], Protein Kinases
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11
المؤلفون: Anna Pilsl, Jörg Tatzelt, Daniel Krappmann, Silvana Hrelia, Wolfgang Wurst, Maria Patra, Anne Kathrin Müller-Rischart, Carolin Schweimer, Thomas Langer, Dietrich Trümbach, Gunnar Dittmar, Maria Funke, Alexandra Deinlein, Regina Peis, Patrick Beaudette, Elisa Motori, Konstanze F. Winklhofer, Peer-Hendrik Kuhn, Kamyar Hadian, Stefan F. Lichtenthaler
المساهمون: Müller-Rischart A.K., Pilsl A., Beaudette P., Patra M., Hadian K., Funke M., Peis R., Deinlein A., Schweimer C., Kuhn P.H., Lichtenthaler S.F., Motori E., Hrelia S., Wurst W., Trümbach D., Langer T., Krappmann D., Dittmar G., Tatzelt J., Winklhofer K.F.
المصدر: Mol Cell
Molecular cell 49(5), 908-921 (2013). doi:10.1016/j.molcel.2013.01.036
Mol. Cell 49, 908-921 (2013)مصطلحات موضوعية: UBIQUINATION, parkin protein, Apoptosis, Mitochondrion, PARKIN, Parkin, Mice, Ubiquitin, MITOCHONDRIA, genetics [Parkinson Disease], Mitophagy, genetics [Ubiquitination], Neurons, Mice, Knockout, genetics [Ubiquitin-Protein Ligases], biology, Intracellular Signaling Peptides and Proteins, NF-kappa B, Parkinson Disease, Cell biology, Ubiquitin ligase, metabolism [Neurons], metabolism [NF-kappa B], Signal transduction, metabolism [Intracellular Signaling Peptides and Proteins], metabolism [Fibroblasts], Signal Transduction, Ubiquitin-Protein Ligases, metabolism [Parkinson Disease], NF-kB ESSENTIAL MODULATOR, Transfection, PARKINSON’S DISEASE, metabolism [Ubiquitin-Protein Ligases], Downregulation and upregulation, NEMO protein, mouse, Animals, Humans, ddc:610, Molecular Biology, HEK 293 cells, Ubiquitination, Cell Biology, Fibroblasts, metabolism [Mitochondria], Molecular biology, nervous system diseases, HEK293 Cells, biology.protein, genetics [Intracellular Signaling Peptides and Proteins], genetics [NF-kappa B]
وصف الملف: STAMPA; application/pdf
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12
المؤلفون: Karina Fog, Emmy Helena Rannikko, Philipp J. Kahle, Stephanie Weber, Louise Buur Vesterager, Poul Henning Jensen, Jafar H. A. Shaik, Elena M. Cornejo Castro
المصدر: Journal of neurochemistry 125(2), 314-327 (2013). doi:10.1111/jnc.12126
Journal of Neurochemistry; Vol 125
Rainnikko, E H, Vesterager, L B, Shaik, J H A, Stephanie S., W, Cornejo Castro, E M, Fog, K, Jensen, P H & Kahle, P J 2013, ' Loss of DJ-1 protein stability and cytoprotective function by Parkinson’s disease-associated proline-158 deletion ', Journal of Neurochemistry, vol. 10.1111 . https://doi.org/10.1111/jnc.12126
Journal of Neurochemistryمصطلحات موضوعية: genetics [Peroxiredoxins], Mutant, Protein Deglycase DJ-1, medicine.disease_cause, Biochemistry, Mice, 0302 clinical medicine, Mutant protein, genetics [Parkinson Disease], ASK1, Oncogene Proteins, 0303 health sciences, Mutation, Protein Stability, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Parkinson Disease, Cell biology, Protein destabilization, PARK7 protein, human, genetics [Multiple System Atrophy], Proline, Molecular Sequence Data, Biology, Transfection, Cell Line, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Animals, Humans, Immunoprecipitation, Point Mutation, ddc:610, Amino Acid Sequence, Protein Structure, Quaternary, 030304 developmental biology, PARK7 protein, mouse, Point mutation, PARK7, genetics [Oncogene Proteins], Peroxiredoxins, Multiple System Atrophy, medicine.disease, Rats, Disease Models, Animal, genetics [Proline], Cancer research, genetics [Intracellular Signaling Peptides and Proteins], 030217 neurology & neurosurgery
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13
المؤلفون: Stephanie Le Hellard, Vidar M. Steen, Benno G. Schimmelmann, Ole A. Andreassen, Michael Conlon O'Donovan, Markus M. Nöthen, Clive R. Bramham, Özgür Albayrak, Anke Hinney, Sven Cichon, Judith Sinzig, Andreas Warnke, Andrea Christoforou, Michael John Owen, Thomas W. Mühleisen, Jan Haavik, André Scherag, Franziska Degenhardt, Sudheer Giddaluru, Marcella Rietschel, Stefan Johansson, Johannes Hebebrand, Kari Merete Ersland, Bjarte Håvik, Nicholas John Craddock, Srdjan Djurovic, Thomas Werge, Helle Lybæk, Carla P. D. Fernandes, Beate Herpertz-Dahlmann, Manuel Mattheisen, Tobias J. Renner
المصدر: PLoS one 7(4), e35424 (2012). doi:10.1371/journal.pone.0035424
PLoS ONE, Vol 7, Iss 4, p e35424 (2012)
PLOS ONE 7(4), e35424 (2012). doi:10.1371/journal.pone.0035424
Håvik, Bjarte; Degenhardt, Franziska A; Johansson, Stefan; Fernandes, Carla P D; Hinney, Anke; Scherag, André; Lybæk, Helle; Djurovic, Srdjan; Christoforou, Andrea; Ersland, Kari M; Giddaluru, Sudheer; O'Donovan, Michael C; Owen, Michael J; Craddock, Nick; Mühleisen, Thomas W; Mattheisen, Manuel; Schimmelmann, Benno G; Renner, Tobias; Warnke, Andreas; Herpertz-Dahlmann, Beate; ... (2012). DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS ONE, 7(4), e35424. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0035424 <http://dx.doi.org/10.1371/journal.pone.0035424>
PLoS ONEمصطلحات موضوعية: Bipolar Disorder, Medizin, Genome-wide association study, genetics [Attention Deficit Disorder with Hyperactivity], Doublecortin-Like Kinases, Cognition, 0302 clinical medicine, Polymorphism (computer science), Neurobiology of Disease and Regeneration, Odds Ratio, genetics [Schizophrenia], Psychiatry, Genetics, 0303 health sciences, Multidisciplinary, ddc:618, DCLK1 protein, human, metabolism [Protein-Serine-Threonine Kinases], Intracellular Signaling Peptides and Proteins, Genomics, Protein-Serine-Threonine Kinases, Mental Health, Phenotype, Schizophrenia, Medicine, ddc:500, metabolism [Intracellular Signaling Peptides and Proteins], Research Article, Genotype, Cognitive Neuroscience, Science, Neuropsychiatric Disorders, Single-nucleotide polymorphism, Protein Serine-Threonine Kinases, Biology, Polymorphism, Single Nucleotide, genetics [Protein-Serine-Threonine Kinases], 03 medical and health sciences, Developmental Neuroscience, Genome Analysis Tools, mental disorders, Genome-Wide Association Studies, Genetic predisposition, medicine, Attention deficit hyperactivity disorder, Humans, Genetic Predisposition to Disease, Bipolar disorder, ddc:610, QH426, 030304 developmental biology, Mood Disorders, Computational Biology, medicine.disease, R1, Introns, Attention Deficit Disorder with Hyperactivity, RC0321, genetics [Intracellular Signaling Peptides and Proteins], Verbal memory, 030217 neurology & neurosurgery, genetics [Bipolar Disorder], Neuroscience, Synaptic Plasticity, Genome-Wide Association Study
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Kerr, B., Delrue, M. A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., Stef, M., Tang, B., Eden, O. B., O'Sullivan, J., De Sandre-Giovannoli, A., Reardon, W., Brewer, C., Bennett, C., Quarell, O., M'Cann, E., Donnai, D., Stewart, F., Hennekam, R., Cavé, H., Verloes, A., Philip, N., Lacombe, D., Levy, N., Arveiler, B., Black, G.
المصدر: Kerr , B , Delrue , M A , Sigaudy , S , Perveen , R , Marche , M , Burgelin , I , Stef , M , Tang , B , Eden , O B , O'Sullivan , J , De Sandre-Giovannoli , A , Reardon , W , Brewer , C , Bennett , C , Quarell , O , M'Cann , E , Donnai , D , Stewart , F , Hennekam , R , Cavé , H , Verloes , A , Philip , N , Lacombe , D , Levy , N , ....
مصطلحات موضوعية: diagnosis: Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DNA Mutational Analysis, Diagnosis, Differential, Female, Genotype, Humans, Infant, genetics: Intracellular Signaling Peptides and Proteins, diagnosis: Noonan Syndrome, Phenotype, genetics: Protein-Tyrosine-Phosphatase, genetics: Proto-Oncogene Proteins p21(ras), Research Support, Non-U.S. Gov't, Syndrome
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15Academic Journal
المؤلفون: Delarbre, C., Kashi, Y., Boursot, P., Beckmann, J. S., Kourilsky, P., Bonhomme, F., Gachelin, G.
المصدر: Molecular Biology and Evolution, vol. 5, no. 2, pp. 120-33
مصطلحات موضوعية: Animals Animals, Wild/genetics Genetic Markers Globins/genetics *Intracellular Signaling Peptides and Proteins Mice/*genetics *Microtubule-Associated Proteins Muridae/genetics Nuclear Proteins/*genetics Phylogeny Polymorphism, Restriction Fragment Length Pseudogenes Recombination, Genetic Species Specificity
Relation: info:eu-repo/semantics/altIdentifier/pmid/2897063; info:eu-repo/semantics/altIdentifier/pissn/0737-4038; https://serval.unil.ch/notice/serval:BIB_CF2D953F281D