The GA4GH Phenopacket schema defines a computable representation of clinical data.

Autor: Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk., Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland., Baynam GS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia., Beckmann JS; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland., Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Callahan TJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA., Courtot M; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada., Danis D; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Elemento O; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Essenwanger A; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Gargano MA; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Groza T; EMBL-EBI, Cambridge, UK., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Kaliyaperumal R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lloyd KCK; Mouse Biology Program, University of California Davis, Davis, CA, USA.; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA., Khalifa A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Krawitz PM; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany., Köhler S; Ada Health GmbH, Berlin, Germany., Laraway BJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lehväslaiho H; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., McMurry JA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Munoz-Torres MC; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ogishima S; Tohoku University, INGEM, Sendai, Japan., Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Pontikos N; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, UK., Queralt-Rosinach N; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Roos M; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Schofield PN; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.; The Alan Turing Institute, London, UK., Seelow D; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Siapos A; Lifebit Biotech Ltd., London, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith LD; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada., Steinhaus R; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Sundaramurthi JC; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Swietlik EM; 40Medicine Department, University of Cambridge, Cambridge, UK.; Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.; Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK., Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Vasilevsky NA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Warner JL; Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA., Weiland C; Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany., Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org., Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.

Publikováno v: Nature biotechnology [Nat Biotechnol] 2022 Jun; Vol. 40 (6), pp. 817-820.

Brain Metabolism in Health and Neurodegeneration: The iInterplay Among Neurons and Astrocytes.

Autor: Shichkova, Polina¹ (AUTHOR) polinashichkova@gmail.com, Coggan, Jay S.¹ (AUTHOR), Markram, Henry^1,2 (AUTHOR), Keller, Daniel¹ (AUTHOR)

Publikováno v: Cells (2073-4409). Oct2024, Vol. 13 Issue 20, p1714. 24p.

3D cellular reconstruction of cortical glia and parenchymal morphometric analysis from Serial Block-Face Electron Microscopy of juvenile rat.

Autor: Calì C; BESE Division, KAUST, Thuwal, Saudi Arabia. Electronic address: corrado.cali@gmail.com., Agus M; Visual Computing Center, KAUST, Thuwal, Saudi Arabia; Visual Computing, CRS4, Pula, Italy., Kare K; BESE Division, KAUST, Thuwal, Saudi Arabia., Boges DJ; BESE Division, KAUST, Thuwal, Saudi Arabia., Lehväslaiho H; BESE Division, KAUST, Thuwal, Saudi Arabia; CSC - IT Center for Science Ltd., Espoo, Finland., Hadwiger M; Visual Computing Center, KAUST, Thuwal, Saudi Arabia., Magistretti PJ; BESE Division, KAUST, Thuwal, Saudi Arabia.

Publikováno v: Progress in neurobiology [Prog Neurobiol] 2019 Dec; Vol. 183, pp. 101696. Date of Electronic Publication: 2019 Sep 21.

Norepinephrine stimulates glycogenolysis in astrocytes to fuel neurons with lactate.

Autor: Coggan JS; Blue Brain Project, École Polytechnique Fédérale de Lausanne (EPFL), Geneva, Switzerland., Keller D; Blue Brain Project, École Polytechnique Fédérale de Lausanne (EPFL), Geneva, Switzerland., Calì C; Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia., Lehväslaiho H; Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia., Markram H; Blue Brain Project, École Polytechnique Fédérale de Lausanne (EPFL), Geneva, Switzerland., Schürmann F; Blue Brain Project, École Polytechnique Fédérale de Lausanne (EPFL), Geneva, Switzerland., Magistretti PJ; Blue Brain Project, École Polytechnique Fédérale de Lausanne (EPFL), Geneva, Switzerland.; Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.

Publikováno v: PLoS computational biology [PLoS Comput Biol] 2018 Aug 30; Vol. 14 (8), pp. e1006392. Date of Electronic Publication: 2018 Aug 30 (Print Publication: 2018).

Regulation by EGF is maintained in an overexpressed chimeric EGFR/neu receptor tyrosine kinase

Autor: Lehväslaiho, H., Lea Sistonen, Direnzo, F., Partanen, J., Comoglio, P., Hölttä, E., Alitalo, K.

Publikováno v: Åbo Akademi University

The effects of a ligand regulated neu tyrosine kinase were examined in NIH 3T3 cells. A chimeric construct encoding the human EGF receptor extracellular domain fused to the tyrosine kinase domain of the rat neu cDNA was expressed under the transcript

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fda12a924541c2c8c31e0593afb3cc87
http://hdl.handle.net/2318/30146