Genome-wide DNA methylation risk scores for schizophrenia derived from blood and brain tissues further explain the genetic risk in patients stratified by polygenic risk scores for schizophrenia and bipolar disorder

Autor: Toshiki Shioiri, Midori Soda, Kazutaka Ohi, Mihoko Shimada, Daisuke Nishizawa, Daisuke Fujikane, Kentaro Takai, Ayumi Kuramitsu, Yukimasa Muto, Shunsuke Sugiyama, Junko Hasegawa, Kiyoyuki Kitaichi, Kazutaka Ikeda

Publikováno v: BMJ Mental Health, Vol 27, Iss 1 (2024)

Background Genetic and environmental factors contribute to the pathogenesis of schizophrenia (SZ) and bipolar disorder (BD). Among genetic risk groups stratified by combinations of Polygenic Risk Score (PRS) deciles for SZ, BD and SZ versus BD, genet

Externí odkaz: https://doaj.org/article/6ddb017afb7b4d27a4b1935d9b6f253b

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Autor: Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Selina M. Yogeshwar, Ryan P. Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K. Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J. Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, FinnGen, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Eva Feketeova, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L. Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte R. Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel Rivas, Jonathan K. Pritchard, Neil Risch, Zoltan Kutalik, Ruth O’Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel J. Mignot

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environ

Externí odkaz: https://doaj.org/article/5ce5735744474cff8886bce42fe536b9

Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer.

Autor: Hiroki Kiyose, Hidewaki Nakagawa, Atsushi Ono, Hiroshi Aikata, Masaki Ueno, Shinya Hayami, Hiroki Yamaue, Kazuaki Chayama, Mihoko Shimada, Jing Hao Wong, Akihiro Fujimoto

Publikováno v: PLoS Genetics, Vol 18, Iss 8, p e1010342 (2022)

Genes generate transcripts of various functions by alternative splicing. However, in most transcriptome studies, short-reads sequencing technologies (next-generation sequencers) have been used, leaving full-length transcripts unobserved directly. Alt

Externí odkaz: https://doaj.org/article/906cb0a5ce6f4d62a7cb5f7c0c99e0ce

Degradation of ionic liquids by a UV/H2O2 process and CMCase from novel ionic liquid-tolerant alkaliphilic Nocardiopsis sp. SSC4

Autor: Atsushi Kurata, Shota Shimizu, Yutaro Shiraishi, Mihoko Abe, Nobutoshi Naito, Mihoko Shimada, Noriaki Kishimoto

Publikováno v: Biotechnology & Biotechnological Equipment, Vol 31, Iss 4, Pp 749-755 (2017)

We demonstrated the degradation of two ionic liquids (1-butyl-3-methylimidazolium chloride, [BMIM]Cl, and 1-ethylpyridinium bromide, [EtPy]Br) that are useful for the solubilization of wood components. [BMIM]+ and [EtPy]+ were detected by thin-layer

Externí odkaz: https://doaj.org/article/8fe3d97f258041c28a50262d826b59f0

Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy

Autor: Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J. Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W. Scholz, Andrew B. Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M. Tanner, Walter A. Kukull, Virginia M.-Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji

To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, Eu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c0ca23eb995d2b34d1429411448aeb26
https://doi.org/10.1101/2023.05.02.23289328