Mechanisms of imprint dysregulationHow to cite this article: Horsthemke B. 2010. Mechanisms of imprint dysregulation. Am J Med Genet Part C Semin Med Genet 153C:321–328.

Autor: Horsthemke, Bernhard

Publikováno v: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; August 2010, Vol. 154 Issue: 3 p321-328, 8p

Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment.

Autor: Lechner L; Department of Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany., Opitz R; Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany., Silver MJ; Medical Research Council Unit, Gambia at the London School of Hygiene and Tropical Medicine, Fajara, Banjul, PO Box 273, Gambia., Krabusch PM; Department of Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany., Prentice AM; Medical Research Council Unit, Gambia at the London School of Hygiene and Tropical Medicine, Fajara, Banjul, PO Box 273, Gambia., Field MS; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14850, USA., Stachelscheid H; Berlin Institute of Health, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, BIH Core Unit Stem Cells and Organoids, 13353 Berlin, Germany., Leitão E; Institute of Human Genetics, University Hospital Essen, 45147 Essen, Germany., Schröder C; Institute of Human Genetics, University Hospital Essen, 45147 Essen, Germany., Fernandez Vallone V; Berlin Institute of Health, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, BIH Core Unit Stem Cells and Organoids, 13353 Berlin, Germany., Horsthemke B; Institute of Human Genetics, University Hospital Essen, 45147 Essen, Germany., Jöckel KH; Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, 45147 Essen, Germany., Schmidt B; Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, 45147 Essen, Germany., Nöthen MM; Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Hoffmann P; Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Herms S; Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Kleyn PW; Rhythm Pharmaceuticals, Boston, MA 02116, USA., Megges M; Department of Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany., Blume-Peytavi U; Clinical Research Center for Hair and Skin Science, Department of Dermatology and Venerology and Allergology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, and Humboldt-Universität zu Berlin, 10117 Berlin, Germany., Weiss K; Klinik für Angeborene Herzfehler - Kinderkardiologie, Deutsches Herzzentrum der Charité, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany., Mai K; Department of Endocrinology, Diabetes, and Nutrition and Charité Center for Cardiovascular Research, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.; German Center for Diabetes Research, 85764 München-Neuherberg, Germany., Blankenstein O; Department of Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.; Department Endocrinology and Metabolism, Labor Berlin-Charité Vivantes GmbH, 13353 Berlin, Germany., Obermayer B; Core Unit Bioinformatics (CUBI), Berlin Institute of Health/Charité- Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany., Wiegand S; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Center for Social-Pediatric Care/Pediatric Endocrinology and Diabetology, 13353 Berlin, Germany., Kühnen P; Department of Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

Publikováno v: Science translational medicine [Sci Transl Med] 2023 Jul 19; Vol. 15 (705), pp. eadg1659. Date of Electronic Publication: 2023 Jul 19.

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.

Autor: Beygo J; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Grosser C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Praxis für Humangenetik Tübingen, Tübingen, Germany., Kaya S; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Mertel C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Buiting K; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Horsthemke B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. bernhard.horsthemke@uni-due.de.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jun; Vol. 28 (6), pp. 835-839. Date of Electronic Publication: 2020 Mar 09.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Autor: Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Kühnel T; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Gérard B; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France., Schaefer E; Service de Génétique Médicale, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Nava C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Engel C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France., Duban-Bedu B; Centre de génétique chromosomique, Hôpital Saint-Vincent de Paul, Lille, France., Villard L; Aix-Marseille University, INSERM, MMG, UMR-S 1251, Faculté de médecine, Marseille, France.; Département de Génétique Médicale, APHM, Hôpital d'Enfants de La Timone, Marseille, France., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Cardiovascular Research Institute (CARIM), Departments of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tran Mau-Them F; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Elder F; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Buratti J; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Keren B; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Mignot C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France., Héron D; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France., Mandel JL; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Gecz J; School of Medicine, The University of Adelaide, Adelaide, 5005, SA, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5006, Australia.; South Australian Health and Medical Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Horsthemke B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Piton A; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.

Publikováno v: Nature communications [Nat Commun] 2022 Nov 02; Vol. 13 (1), pp. 6570. Date of Electronic Publication: 2022 Nov 02.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Autor: Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., FAME Consortium

Publikováno v: Nature Communications, 10. NATURE PUBLISHING GROUP

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af7f29afbc8c65e9c77fbc8e77c8116c
https://hdl.handle.net/1887/122248