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by Anttila, Verneri and Bulik-Sullivan, Brendan and Finucane, Hilary K and Walters, Raymond K and Bras, Jose and Duncan, Laramie and Escott-Price, Valentina and Falcone, Guido J and Gormley, Padhraig and Malik, Rainer and Patsopoulos, Nikolaos A and Ripke, Stephan and Wei, Zhi and Yu, Dongmei and Lee, Phil H and Turley, Patrick and Grenier-Boley, Benjamin and Chouraki, Vincent and Kamatani, Yoichiro and Berr, Claudine and Letenneur, Luc and Hannequin, Didier and Amouyel, Philippe and Boland, Anne and Deleuze, Jean-François and Duron, Emmanuelle and Vardarajan, Badri N and Reitz, Christiane and Goate, Alison M and Huentelman, Matthew J and Ilyas Kamboh, M and Larson, Eric B and Rogaeva, Ekaterina and George-Hyslop, Peter St and Hakonarson, Hakon and Kukull, Walter A and Farrer, Lindsay A and Barnes, Lisa L and Beach, Thomas G and Yesim Demirci, F and Head, Elizabeth and Hulette, Christine M and Jicha, Gregory A and Kauwe, John S.K and Kaye, Jeffrey A and Leverenz, James B and Levey, Allan I and Lieberman, Andrew P and Pankratz, Vernon S and Poon, Wayne W and Quinn, Joseph F and Saykin, Andrew J and Schneider, Lon S and Smith, Amanda G and Sonnen, Joshua A and Stern, Robert A and Van Deerlin, Vivianna M and Van Eldik, Linda J and Harold, Denise and Russo, Giancarlo and Rubinsztein, David C and Bayer, Anthony and Tsolaki, Magda and Proitsi, Petra and Fox, Nick C and Hampel, Harald and Owen, Michael J and Mead, Simon and Passmore, Peter and Morgan, Kevin and Nöthen, Markus M and Rossor, Martin and Lupton, Michelle K and Hoffmann, Per and Kornhuber, Johannes and Lawlor, Brian and McQuillin, Andrew and Al-Chalabi, Ammar and Bis, Joshua C and Ruiz, Agustin and Boada, Mercè and Seshadri, Sudha and Beiser, Alexa and Rice, Kenneth and Van Der Lee, Sven J and De Jager, Philip L and Geschwind, Daniel H and Riemenschneider, Matthias and Riedel-Heller, Steffi and Rotter, Jerome I and Ransmayr, Gerhard and Hyman, Bradley T and Cruchaga, Carlos and Alegret, Montserrat and Winsvold, Bendik and Palta, Priit and Farh, Kai-How and Cuenca-Leon, Ester and Furlotte, Nicholas and Kurth, Tobias and ... and Brainstorm Consortium and The Brainstorm Consortium
Science, ISSN 0036-8075, 06/2018, Volume 360, Issue 6395, pp. 1313 - 1313
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We... 
ANOREXIA-NERVOSA | POPULATION-BASED TWIN | DEFICIT HYPERACTIVITY DISORDER | LONG-TERM SURVIVAL | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | GENETIC CORRELATIONS | BODY-MASS INDEX | MAJOR DEPRESSIVE DISORDER | BIPOLAR DISORDER | GENOME-WIDE ASSOCIATION | Genetic Variation | Mental Disorders - genetics | Genome-Wide Association Study | Phenotype | Brain Diseases - classification | Quantitative Trait, Heritable | Brain Diseases - diagnosis | Humans | Mental Disorders - classification | Risk Factors | Brain Diseases - genetics | Mental Disorders - diagnosis | Anorexia | Disorders | Cognitive ability | Bipolar disorder | Posttraumatic stress disorder | Mental depression | Epidemiology | Risk factors | Consortia | Proteins | Ischemia | Etiology | Classification | Gilles de la Tourette syndrome | Alzheimer's disease | Neurological disorders | Neurodegenerative diseases | Comorbidity | Behavior disorders | Anorexia nervosa | Risk analysis | Patients | Neurological diseases | Correlation analysis | Heritability | Attention deficit disorder | Headache | Mental disorders | Medical services | Schizophrenia | Risk sharing | Genomes | Heterogeneity | Biological effects | Risk assessment | Stroke | Phenotypes | Migraine | Attention deficit hyperactivity disorder | Eating disorders | Personality | Genetic diversity | Statistics | Activity patterns | Crohn's Disease | Population (statistical) | Scaffolding | Diagnostic systems | Alzheimers disease | Index Medicus | Life Sciences | Human health and pathology | Mental Disorders | Neurons and Cognition | Brain Diseases | Genetics
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2014, Volume 111, Issue 11, pp. 4197 - 4202
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth... 
Muscular diseases | HEK293 cells | Calcium | Lymphocytes | Alleles | Miosis | Platelets | Genetic mutation | Embryos | Bleeding | Calcium signaling | Human genetics | human genetics | ZEBRAFISH | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | calcium signaling | MAST-CELLS | CRAC CHANNELS | CA2+ STORE DEPLETION | STROMAL INTERACTION MOLECULE-1 | CALCIUM | ENDOPLASMIC-RETICULUM | PROTEINS | PLASMA MEMBRANE JUNCTIONS | Humans | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | DNA Primers - genetics | Erythrocytes, Abnormal | Miosis - genetics | Base Sequence | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Calcium Channels - genetics | Child | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Mutagenesis, Site-Directed | Membrane Proteins - genetics | Zebrafish | Spleen - abnormalities | Mutation - genetics | Dyslexia - genetics | ORAI1 Protein | Sequence Analysis, DNA | Patch-Clamp Techniques | Animals | Migraine Disorders - genetics | Pedigree | Muscle Fatigue - genetics | Calcium Signaling - genetics | Calcium channels | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Cytoplasm | Proteins | Signal transduction | Cell growth | Homeostasis | Mutation | Gene expression | Index Medicus | Biological Sciences
Journal Article
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 556 - 564
Journal Article
by Gormley, A.M and Stefansson, Hreinn and Winsvold, Bendik and Palta, Priit and Esko, Tõnu and Pers, Tune and Farh, Kai-How and Cuenca-Leon, E and Muona, M and Furlotte, N.A and Kurth, Karl and Ingason, Anes and Mcmahon, George and Ligthart, Lannie and Terwindt, Gisela and Todt, Unda and Müller-Myhsok, Bertram and Ran, C and Gordon, S.G and Stam, Anine and Steinberg, Stacy and Göbel, Hartmut and Koiranen, Markku and Quaye, Lydia and Adams, H.H.H and Lehtimäki, Terho and Sarin, A.-P and Wedenoja, J and Hinds, David A and Buring, J.E and Schürks, Markus and Ridker, Paul and Hrafnsdottir, M.G and Ring, Susan and Hottenga, Jouke Jan and Penninx, Brenda and Färkkilä, Markus and Artto, Ville and Hämäläinen, Eija and Lucae, Susanne and Malik, Rainer and Heath, Anew C and Madden, Pamela and Martin, Nicholas and Montgomery, Grant and Kurki, M.I and Kals, Mart and Mägi, Reedik and Pärn, K and Hamalainen, Eija and Huang, H and Byrnes, A.E and Franke, Lude and Huang, Jian and Stergiakouli, Evangelia and Lee, Phil and Sandor, C and Webber, C and Cader, Z and Müller-Myhsok, B and Schreiber, Stefan and Meitinger, Thomas and Hagen, Knut and Salomaa, Veikko and Heikkilä, Kauko and Loehrer, Elizabeth and Uitterlinden, Ané and Hofman, A and Duijn, Cornelia and Cherkas, Lynn and Pedersen, L.M and Stubhaug, A and Nielsen, C.S and Männikkö, M and Mihailov, Evelin and Milani, Lili and Esserlind, A.-L and Christensen, A.F and Hansen, T.F and Werge, Thomas and Kaprio, Jaakko and Aromaa, Arpo and Raitakari, Olli and Ikram, Arfan and Ikram, Kamran and Jarvelin, Marjo-Riitta and Metspalu, Anes and Kubisch, Christian and Strachan, David and Ferrari, Michel and Belin, A.C and Wessman, Maija and Maagdenberg, Arn and Zwart, John-Anker and Boomsma, Dorret and Smith, G.D and Stefansson, K and Eriksson, Nicholas and Daly, Mark and Neale, Benjamin and ... and Int Headache Genetics Consortium and International Headache Genetics Consortium
Nature Genetics, ISSN 1061-4036, 08/2016, Volume 48, Issue 8, pp. 856 - 866
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2018, Volume 60, Issue 12, pp. 1256 - 1263
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1319 - 1325
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1121 - 1132
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation | Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 825 - 12
STIM1 and Orai1 are key components of the Ca2+-release activated Ca2+ (CRAC) current. Orai1, which represents the subunit forming the CRAC channel complex, is... 
CHANNEL FUNCTION | OPERATED CALCIUM-ENTRY | ORAI CHANNELS | MULTIDISCIPLINARY SCIENCES | MUTATION | CA2+ SENSOR | STORE | INTERACTION MOLECULE-1 STIM1 | PLASMA-MEMBRANE | SAM DOMAIN | CRAC CHANNEL | Calcium - metabolism | Dyslexia - metabolism | Humans | Dyslexia - pathology | Green Fluorescent Proteins - genetics | Calcium - chemistry | ORAI1 Protein - chemistry | Migraine Disorders - pathology | Stromal Interaction Molecule 1 - chemistry | Neoplasm Proteins - genetics | Binding Sites | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | Gene Expression | Models, Molecular | Recombinant Proteins - chemistry | Neoplasm Proteins - chemistry | Patch-Clamp Techniques | Migraine Disorders - genetics | Miosis - pathology | Luminescent Proteins - genetics | Muscle Fatigue - genetics | Miosis - metabolism | Blood Platelet Disorders - pathology | Ichthyosis - metabolism | Protein Multimerization | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | HEK293 Cells | Ichthyosis - genetics | Ion Transport | Protein Interaction Domains and Motifs | Spleen - pathology | Genes, Reporter | Recombinant Proteins - metabolism | Green Fluorescent Proteins - metabolism | Protein Conformation, alpha-Helical | ORAI1 Protein - genetics | Bacterial Proteins - genetics | Gene Expression Regulation | Recombinant Proteins - genetics | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Stromal Interaction Molecule 1 - metabolism | Erythrocytes, Abnormal - pathology | Spleen - metabolism | Protein Binding | Bacterial Proteins - metabolism | Blood Platelet Disorders - metabolism | Amino Acid Substitution | Luminescent Proteins - metabolism | Calcium channels | STIM1 protein | Activation | Exposure | Orai1 protein | Elongation | Calcium ions | Index Medicus
Journal Article