المؤلفون: Andreas Dalski, Abhinav Rampuria, María Concepción Gil-Rodríguez, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Jolanta Wierzba, Melanie Hullings, Antonie D. Kline, Mark B. Mallozzi, Dinah Clark, Melanie Albrecht, Andreas Tzschach, Ian D. Krantz, Christopher T. Fincher, Elizabeth Loy, Matthew A. Deardorff, Juliane Eckhold, Janusz Limon, Raoul C.M. Hennekam, Maninder Kaur, Diana Braunholz

المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics

المصدر: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
European journal of human genetics, 20(3), 271-276. Nature Publishing Group

مصطلحات موضوعية: Cornelia de Lange Syndrome, Mutation, Missense, Cell Cycle Proteins, Plasma protein binding, Biology, Article, De Lange Syndrome, Genetics, medicine, Missense mutation, Humans, Protein Interaction Domains and Motifs, Genetics (clinical), Cohesin, Facies, Proteins, NIPBL, medicine.disease, Phenotype, Chromatin, Establishment of sister chromatid cohesion, DNA-Binding Proteins, Intercellular Signaling Peptides and Proteins, Corrigendum, Protein Binding

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fffeba3c1b8a26c4d33bb6014cfc30Test
https://europepmc.org/articles/PMC3283190Test/

المؤلفون: Michael B. Petersen, Geert Mortier, Ian D. Krantz, Patrick M. Lombardi, Frank J. Kaiser, Claude Prigent, Elfride De Baere, Kathryn E. Cole, Tohru Kiyono, Sarah Ernst, Dinah Clark, Katsuhiko Shirahige, Laura Magnaghi-Jaulin, Nataliya Di Donato, Melanie Hullings, Erwan Watrin, Yutaka Suzuki, Naohito Nozaki, Jonathan J. Wilde, Lauren J. Francey, Patrick Willems, David W. Christianson, Takehiko Itoh, Ryuichiro Nakato, Yuki Katou, Christian Jaulin, Laird G. Jackson, Makiko Komata, Gabriele Gillessen-Kaesbach, Matthew A. Deardorff, Maninder Kaur, Masashi Minamino, Hiroyuki Seimiya, Yolanda Gyftodimou, Christophe Decroos, Victoria Mok Siu, Yuuichi Ishikawa, Kyotaro Hirashima, Katsuya Saitoh, Masashige Bando, Kentaro Takagaki, Toru Hirota

المساهمون: Division of Human Genetics and Molecular Biology, Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics, University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Research Center for Epigenetic Disease, The University of Tokyo (UTokyo), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), School of Bioscience and Biotechnology, Tokyo Institute of Technology [Tokyo] (TITECH), Department of Chemistry, Center for Medical Genetics [Ghent], Ghent University Hospital, Institut für Klinische Genetik, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Department of Genetics, Institute of Child Health, Division of Molecular Biotherapy, Japanese Foundation for Cancer Research, Department of Pathology, Division of Virology, National Cancer Center Research Institute, Department of Medical Genetics, Antwerp University Hospital [Edegem] (UZA), Bio-Frontier Research Center, Department of Clinical Genetics, Aarhus University Hospital, University of Western Ontario (UWO), Graduate School of Frontier Sciences, Department of Experimental Pathology, GENetic DIAgnostic Network (GENDIA), GENDIA Central Lab, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Institut für Humangenetik Lübeck, Universität zu Lübeck = University of Lübeck [Lübeck], Department of Obstetrics and Gynecology, Drexel University College of Medicine, Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST), De Villemeur, Hervé, University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Universität zu Lübeck [Lübeck]

المصدر: Deardorff, M A, Bando, M, Nakato, R, Watrin, E, Itoh, T, Minamino, M, Saitoh, K, Komata, M, Katou, Y, Clark, D, Cole, K E, De Baere, E, Decroos, C, Di Donato, N, Ernst, S, Francey, L J, Gyftodimou, Y, Hirashima, K, Hullings, M, Ishikawa, Y, Jaulin, C, Kaur, M, Kiyono, T, Lombardi, P M, Magnaghi-Jaulin, L, Mortier, G R, Nozaki, N, Petersen, M B, Seimiya, H, Siu, V M, Suzuki, Y, Takagaki, K, Wilde, J J, Willems, P J, Prigent, C, Gillessen-Kaesbach, G, Christianson, D W, Kaiser, F J, Jackson, L G, Hirota, T, Krantz, I D & Shirahige, K 2012, ' HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle ', English Nature, vol. 489, no. 7415, pp. 313-7 . https://doi.org/10.1038/nature11316Test
Nature
Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩
Nature, Nature Publishing Group, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩

مصطلحات موضوعية: Male, Models, Molecular, Transcription, Genetic, Chromosomal Proteins, Non-Histone, Protein Conformation, Cell Cycle Proteins, [SDV.GEN] Life Sciences [q-bio]/Genetics, Crystallography, X-Ray, Prophase, MESH: Mutant Proteins, 0302 clinical medicine, MESH: Protein Conformation, De Lange Syndrome, MESH: Proteins, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Anaphase, Genetics, MESH: Chromatin Immunoprecipitation, 0303 health sciences, Multidisciplinary, MESH: Chondroitin Sulfate Proteoglycans, Nuclear Proteins, Acetylation, Chromatin, Establishment of sister chromatid cohesion, DNA-Binding Proteins, MESH: Prophase, MESH: Repressor Proteins, Female, biological phenomena, cell phenomena, and immunity, Engineering sciences. Technology, MESH: Acetylation, MESH: De Lange Syndrome, MESH: Models, Molecular, Chromatin Immunoprecipitation, Cornelia de Lange Syndrome, MESH: Mutation, Cohesin complex, Biology, MESH: Anaphase, MESH: Phosphoproteins, Article, Histone Deacetylases, MESH: Chromatin, 03 medical and health sciences, MESH: Cell Cycle Proteins, MESH: Chromosomal Proteins, Non-Histone, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, 030304 developmental biology, MESH: Adaptor Proteins, Signal Transducing, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Binding Sites, Cohesin, MESH: Transcription, Genetic, Proteins, NIPBL, Fibroblasts, medicine.disease, MESH: Crystallography, X-Ray, Phosphoproteins, MESH: Male, MESH: Histone Deacetylases, Repressor Proteins, MESH: Binding Sites, Chondroitin Sulfate Proteoglycans, MESH: Fibroblasts, MESH: HeLa Cells, Mutation, Mutant Proteins, MESH: Female, MESH: Nuclear Proteins, 030217 neurology & neurosurgery, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c946a259948fc2cc3a2a351405b3f06Test
https://pure.au.dk/portal/da/publications/hdac8-mutations-in-cornelia-de-lange-syndrome-affect-the-cohesin-acetylation-cycleTest(056fd46a-efdc-457d-b308-a51a56fd56b2).html