المؤلفون: Luperchio, Teresa Romeo, Boukas, Leandros, Zhang, Li, Pilarowski, Genay, Jiang, Jenny, Kalinousky, Allison, Hansen, Kasper D, Bjornsson, Hans T

المساهمون: 1Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, United States. 2Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, United States. 3Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 4Landspitali University Hospital, Reykjavik, Iceland. #Contributed equally.

المصدر: eLife ; 10 ; United Kingdom ; United States ; England

مصطلحات موضوعية: IgA deficiency, Mendelian, chromatin, computational biology, computational methods, epigenetics, genetics, genomics, histone machinery, mouse, systems biology

العلاقة: https://elifesciences.org/articles/65884Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443249Test/; Luperchio TR, Boukas L, Zhang L, et al. Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation. Elife. 2021;10:e65884. Published 2021 Aug 31. doi:10.7554/eLife.65884; http://hdl.handle.net/2336/622005Test; eLife

الإتاحة: https://doi.org/10.7554/eLife.65884Test
http://hdl.handle.net/2336/622005Test

المؤلفون: Zhang, Li, Pilarowski, Genay, Pich, Emilio Merlo, Nakatani, Atsushi, Dunlop, John, Baba, Rina, Matsuda, Satoru, Daini, Masaki, Hattori, Yasushi, Matsumoto, Shigemitsu, Ito, Mitsuhiro, Kimura, Haruhide, Bjornsson, Hans Tomas

المساهمون: 1McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. 2Takeda Pharmaceutical Company Limited, Fujisawa, Kanagawa, Japan. 3Takeda Pharmaceutical Company Limited, London, UK. 4Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik 101, Iceland. 6Landspitali University Hospital, Reykjavik 101, Iceland.

المصدر: Molecular therapy. Methods & clinical development ; 20 ; 779 ; 791 ; United States

مصطلحات موضوعية: ERK, H3K4me1, H3K4me3, LSD1, adult neurogenesis, chromatin, epigenetics, histone modification, splenomegaly, therapeutics, Kabuki syndrome, Erfðasjúkdómar, Genetic Diseases, Inborn

العلاقة: https://www.sciencedirect.com/science/article/pii/S2329050121000267?via%3DihubTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940709Test/; Zhang L, Pilarowski G, Pich EM, Nakatani A, Dunlop J, Baba R, Matsuda S, Daini M, Hattori Y, Matsumoto S, Ito M, Kimura H, Bjornsson HT. Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome. Mol Ther Methods Clin Dev. 2021 Feb 18;20:779-791. doi:10.1016/j.omtm.2021.02.011.; http://hdl.handle.net/2336/621773Test; Molecular therapy. Methods & clinical development

الإتاحة: https://doi.org/10.1016/j.omtm.2021.02.011Test
http://hdl.handle.net/2336/621773Test

المؤلفون: Pilarowski, Genay O, Cazares, Tareian, Zhang, Li, Benjamin, Joel S, Liu, Ke, Jagannathan, Sajjeev, Mousa, Nadeem, Kasten, Jennifer, Barski, Artem, Lindsley, Andrew W, Bjornsson, Hans T

المساهمون: 1Predoctoral Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, Md, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md. 2Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 3McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md. 4Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 5Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 6Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. 7Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: andrew.lindsley@cchmc.org. 8McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md, Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Md, Faculty of Medicine, University of Iceland, Reykjavik, Iceland, Department of Genetics and Molecular Biology, Landspitali University Hospital, Reykjavik, Iceland.

المصدر: The Journal of allergy and clinical immunology ; 145 ; 3 ; 982 ; 992 ; United States

مصطلحات موضوعية: B-cell maturation, B1 B cells, ITGB7, IgA, KMT2D, epigenetics, gut lymphocyte homing, hypogammaglobulinemia, Kabuki syndrome, Kabuki heilkenni

العلاقة: https://www.sciencedirect.com/science/article/pii/S0091674919316276?via%3DihubTest; Pilarowski GO, Cazares T, Zhang L, et al. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome. J Allergy Clin Immunol. 2020;145(3):982‐992. doi:10.1016/j.jaci.2019.11.034; http://hdl.handle.net/2336/621381Test; The Journal of allergy and clinical immunology

الإتاحة: https://doi.org/10.1016/j.jaci.2019.11.034Test
http://hdl.handle.net/2336/621381Test