المؤلفون: Laura Dean Heckman, Maria H Chahrour, Huda Y Zoghbi

المصدر: eLife, Vol 3 (2014)

مصطلحات موضوعية: MeCP2, Rett syndrome, MECP2 duplication syndrome, neurobiology, genetic, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/02676Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/b6cbd4e3f6264246ba7bc27f55a878e0Test

المؤلفون: Laura A. Lavery, Steven Andrew Baker, Huda Y. Zoghbi, Yingyao Shao, Aya Ito-Ishida, Hari Krishna Yamalanchili, Ji-Yoen Kim, Laura Dean Heckman, Zhandong Liu, Laura Marie Lombardi, Yaling Sun

المصدر: Nature neuroscience

مصطلحات موضوعية: 0301 basic medicine, Chromatin Immunoprecipitation, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Methyl-CpG-Binding Protein 2, Polymerase Chain Reaction, Genome, Article, MECP2, Histones, Mice, 03 medical and health sciences, Prosencephalon, Histone H1, In vivo, mental disorders, Animals, Cell Nucleus, Chemistry, General Neuroscience, food and beverages, DNA Methylation, nervous system diseases, Cell biology, Mice, Inbred C57BL, 030104 developmental biology, Forebrain, Excitatory postsynaptic potential, Linker, Chromatin immunoprecipitation, Neuroscience, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d4ff1fe94ce93eb7343985dada4566Test
https://doi.org/10.1038/s41593-018-0155-8Test

المؤلفون: Jens Lykke-Andersen, Marie-Cécile Nassogne, Nicola Foulds, Susan Blaser, Anne Gregor, Rea M. Lardelli, Stefania Maria Bova, Ashleigh E. Schaffer, Linda Warwick, Masaaki Shiina, Eric Scott, Hülya Kayserili, Murat Gunel, Linda De Meirleir, Ahmet Okay Caglayan, Luigina Spaccini, Kazuhiro Ogata, Ari Widjaja, Naiara Akizu, Naomichi Matsumoto, David Chitayat, Henrik Thybo Christesen, Stephanie Grainger, David K. Manchester, Laura Dean Heckman, Gene W. Yeo, Sebastian Markmiller, Kazuhiro Muramatsu, Rohit Mande, Maha S. Zaki, Zinayida Schlachetzki, Umut Altunoglu, Kimberly A. Aldinger, Maria Kibaek, Joseph G. Gleeson, Justin H Davies, Mary Louise Freckmann, Eric J. Bennett, Jennifer L. Silhavy, Timothy Shaw, Esra Dikoglu, David Traver, Hüseyin Per, Eric L. Van Nostrand, Neil C. Chi, Stacey Gabriel, Enza Maria Valente, Hirotomo Saitsu, Veerle Rc Eggens, Shashank Sathe, Rasim Ozgur Rosti, Christina Fagerberg, Kaya Bilguvar, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti, Damir Musaev, Isaac Marin-Valencia, William B. Dobyns

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Genome Analysis, ARD - Amsterdam Reproduction and Development

المصدر: Nature genetics
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762Test
Nature genetics, vol 49, iss 3

مصطلحات موضوعية: 0301 basic medicine, RNA, Messenger/genetics, Exonucleases, Male, Messenger, Exonucleases/genetics, medicine.disease_cause, Medical and Health Sciences, Mice, RNA, Small Nuclear, Neurodegenerative Diseases/genetics, Nuclear protein, Zebrafish, Genetics, Mutation, Neurodegeneration, Nuclear Proteins, TOE1, Neurodegenerative Diseases, deadenylation, Biological Sciences, CAF1Z, SnRNA processing, Female, Exonuclease, congenital, hereditary, and neonatal diseases and abnormalities, Spliceosome, mice, Mutation/genetics, snRNP, Pontocerebellar hypoplasia, Biology, Article, 03 medical and health sciences, Small Nuclear, snRNA, Cerebellar Diseases, medicine, Journal Article, Animals, Humans, RNA, Messenger, Spliceosomes/genetics, Alleles, Cerebellar Diseases/genetics, urogenital system, medicine.disease, zebrafish, Nuclear Proteins/genetics, 030104 developmental biology, biology.protein, Spliceosomes, RNA, mutation, RNA, Small Nuclear/genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e93af0a10db11f22ffaa9743a63cb4Test
https://hdl.handle.net/1887/114885Test

المؤلفون: Maria H. Chahrour, Laura Dean Heckman, Huda Y. Zoghbi

مصطلحات موضوعية: Genetics, MECP2 duplication syndrome, Toxicity, medicine, Biology, medicine.disease, Function (biology), MECP2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da07030878e0f6024bd5e00d2c44ec4dTest
https://doi.org/10.7554/elife.02676.011Test