Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Autor: Yang F; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Begemann A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Reichhart N; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Haeckel A; Institute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Schellenberger E; Institute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Sturm RF; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Barth M; University Hospital of Angers, Department of Genetics, Angers, France., Bassani S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Courtin T; Sorbonne Université, INSERM, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, 75013 Paris, France; Hôpital Pitié-Salpêtrière, DMU BioGe'M, AP-HP, 75013 Paris, France., Delobel B; Service de Cytogénétique, GH de l'Institut Catholique de Lille, Hopital Saint Vincent de Paul, Lille, France., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, the Netherlands., Hardies K; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium., Jennesson M; Department of Pediatrics, CHU, Reims, France., Legoff L; University Hospital of Angers, Department of Genetics, Angers, France., Linnankivi T; Epilepsia Helsinki, University of Helsinki and Helsinki University Hospital, 00029 HUS Helsinki, Finland; Department of Pediatric Neurology and Pediatric Research Center, New Children's Hospital, Helsinki University Hospital and University of Helsinki, 00029 HUS Helsinki, Finland., Prouteau C; University Hospital of Angers, Department of Genetics, Angers, France., Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium., Spodenkiewicz M; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France., Toelle SP; Department of Pediatric Neurology, Children's University Hospital Zurich, Zurich, Switzerland., Van Gassen K; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands., Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, and Neurology Department, University Hospitals Leuven, 3000 Leuven, Belgium., Verbeek N; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands., Ziegler A; University Hospital of Angers, Department of Genetics, Angers, France., Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Horn AHC; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Sticht H; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium., Strauß O; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Children's University Hospital Zurich, Zurich, Switzerland. Electronic address: anita.rauch@medgen.uzh.ch.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1184-1205. Date of Electronic Publication: 2024 May 13.

Inhibition of Ca ²⁺ channel surface expression by mutant bestrophin-1 in RPE cells.

Autor: Cordes M; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Bucichowski P; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Alfaar AS; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Tsang SH; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia Stem Cell Initiative, Departments of Ophthalmology Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA., Almedawar S; Center for Molecular and Cellular Bioengineering (CMCB), Center for Regenerative Therapies, Dresden (CRTD), Technische Universität Dresden, Dresden, Germany., Reichhart N; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany., Strauß O; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2020 Mar; Vol. 34 (3), pp. 4055-4071. Date of Electronic Publication: 2020 Jan 12.

Multi-Institutional Physician Assistant Student Perception of Simulated Emergency Room Cases.

Autor: Bell A; Ashley Thrasher Bell, DMSc, PA-C, is director of assessment and an associate professor at the High Point University Physician Assistant Program in High Point, North Carolina.; Joy Moverley, DHSc, MPH, PA-C, is the associate program director and an associate professor for the Touro University California Joint MSPAS/MPH Program in Vallejo, California.; Erin Salcido, MPAS, PA-C, is the director of didactic education and an assistant professor for the School of Physician Assistant Studies at Marshall B. Ketchum University in Fullerton, California.; Nicole Reichhart, MPAS, PA-C, is an assistant professor for the Master of Science Physician Assistant Program at California State University, Monterey Bay in Seaside, California., Salcido E; Ashley Thrasher Bell, DMSc, PA-C, is director of assessment and an associate professor at the High Point University Physician Assistant Program in High Point, North Carolina.; Joy Moverley, DHSc, MPH, PA-C, is the associate program director and an associate professor for the Touro University California Joint MSPAS/MPH Program in Vallejo, California.; Erin Salcido, MPAS, PA-C, is the director of didactic education and an assistant professor for the School of Physician Assistant Studies at Marshall B. Ketchum University in Fullerton, California.; Nicole Reichhart, MPAS, PA-C, is an assistant professor for the Master of Science Physician Assistant Program at California State University, Monterey Bay in Seaside, California., Reichhart N; Ashley Thrasher Bell, DMSc, PA-C, is director of assessment and an associate professor at the High Point University Physician Assistant Program in High Point, North Carolina.; Joy Moverley, DHSc, MPH, PA-C, is the associate program director and an associate professor for the Touro University California Joint MSPAS/MPH Program in Vallejo, California.; Erin Salcido, MPAS, PA-C, is the director of didactic education and an assistant professor for the School of Physician Assistant Studies at Marshall B. Ketchum University in Fullerton, California.; Nicole Reichhart, MPAS, PA-C, is an assistant professor for the Master of Science Physician Assistant Program at California State University, Monterey Bay in Seaside, California., Moverley J; Ashley Thrasher Bell, DMSc, PA-C, is director of assessment and an associate professor at the High Point University Physician Assistant Program in High Point, North Carolina.; Joy Moverley, DHSc, MPH, PA-C, is the associate program director and an associate professor for the Touro University California Joint MSPAS/MPH Program in Vallejo, California.; Erin Salcido, MPAS, PA-C, is the director of didactic education and an assistant professor for the School of Physician Assistant Studies at Marshall B. Ketchum University in Fullerton, California.; Nicole Reichhart, MPAS, PA-C, is an assistant professor for the Master of Science Physician Assistant Program at California State University, Monterey Bay in Seaside, California.

Publikováno v: The journal of physician assistant education : the official journal of the Physician Assistant Education Association [J Physician Assist Educ] 2022 Dec 01; Vol. 33 (4), pp. 291-295.

FoxP3 expression by retinal pigment epithelial cells: transcription factor with potential relevance for the pathology of age-related macular degeneration.

Autor: Alfaar AS; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität, Berlin Institute of Health, Humboldt-University, 10117, Berlin, Germany.; Department of Ophthalmology, University Hospital of Ulm, 89075, Ulm, Germany., Stürzbecher L; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität, Berlin Institute of Health, Humboldt-University, 10117, Berlin, Germany., Diedrichs-Möhring M; Section of Immunobiology, Department of Ophthalmology, University Hospital, LMU Munich, 80336, Munich, Germany., Lam M; Institut de La Vision, Sorbonne Université, INSERM, CNRS, 75012, Paris, France., Roubeix C; Institut de La Vision, Sorbonne Université, INSERM, CNRS, 75012, Paris, France., Ritter J; Institut Für Med. Mikrobiologie, Immunologie Und Hygiene, TU München, 81675, Munich, Germany., Schumann K; Institut Für Med. Mikrobiologie, Immunologie Und Hygiene, TU München, 81675, Munich, Germany., Annamalai B; Department of Ophthalmology, College of Medicine, Medical University South Carolina, Charleston, SC, 29425, USA., Pompös IM; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität, Berlin Institute of Health, Humboldt-University, 10117, Berlin, Germany., Rohrer B; Department of Ophthalmology, College of Medicine, Medical University South Carolina, Charleston, SC, 29425, USA., Sennlaub F; Institut de La Vision, Sorbonne Université, INSERM, CNRS, 75012, Paris, France., Reichhart N; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität, Berlin Institute of Health, Humboldt-University, 10117, Berlin, Germany., Wildner G; Section of Immunobiology, Department of Ophthalmology, University Hospital, LMU Munich, 80336, Munich, Germany. Gerhild.Wildner@med.uni-muenchen.de., Strauß O; Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität, Berlin Institute of Health, Humboldt-University, 10117, Berlin, Germany. Olaf.strauss@charite.de.

Publikováno v: Journal of neuroinflammation [J Neuroinflammation] 2022 Oct 22; Vol. 19 (1), pp. 260. Date of Electronic Publication: 2022 Oct 22.

VEGF-A Sekretion von Makrophagen hat keinen Einfluss auf Hypoxie-induzierte Neovaskularisation in der Maus-Retina

Autor: Nürnberg, Christina, Kociok, N., Brockmann, C., Lischke, T., Crespo-Garcia, S., Reichhart, N., Wolf, S., Baumgraß, R., Eming, S. A., Beer-Hammer, S., Joussen, A. M.

Publikováno v: 29. Jahrestagung der Retinologischen Gesellschaft; 20160617-20160618; Berlin; DOC16rg15 /20160616/

Hintergrund: Entzündungszellen spielen eine wichtige Rolle in der Pathogenese ischämischer retinaler Erkrankungen wie der Frühgeborenenretinopathie. Frühere Arbeiten haben gezeigt, dass die systemische Depletion von Makrophagen die Konzentration

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a0d0e8111ee11bdef421273809fc5
http://www.egms.de/en/meetings/rg2016/16rg15.shtml