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Items: 18

1.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5
PMCID:
PMC10208958
AbstractArticlePDF–7.0M
2.
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frédéric Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Herault
Biomedicines. 2022 Dec; 10(12): 3148. Published online 2022 Dec 6. doi: 10.3390/biomedicines10123148
PMCID:
PMC9775489
AbstractArticlePDF–2.8M
3.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
4.
Splice‐dependent trans‐synaptic PTPδ–IL1RAPL1 interaction regulates synapse formation and non‐REM sleep
Haram Park, Yeonsoo Choi, Hwajin Jung, Seoyeong Kim, Suho Lee, Hyemin Han, Hanseul Kweon, Suwon Kang, Woong Seob Sim, Frank Koopmans, Esther Yang, Hyun Kim, August B Smit, Yong Chul Bae, Eunjoon Kim
EMBO J. 2020 Jun 2; 39(11): e104150. Published online 2020 Apr 29. doi: 10.15252/embj.2019104150
PMCID:
PMC7265247
AbstractArticlePDF–4.8M
5.
IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase δ
Tomoyuki Yoshida, Misato Yasumura, Takeshi Uemura, Sung-Jin Lee, Moonjin Ra, Ryo Taguchi, Yoichiro Iwakura, Masayoshi Mishina
J Neurosci. 2011 Sep 21; 31(38): 13485–13499. doi: 10.1523/JNEUROSCI.2136-11.2011
PMCID:
PMC6623287
AbstractArticlePDF–4.9M
6.
Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder
Xander Houbaert, Chun-Lei Zhang, Frédéric Gambino, Marilyn Lepleux, Melissa Deshors, Elisabeth Normand, Florian Levet, Mariana Ramos, Pierre Billuart, Jamel Chelly, Etienne Herzog, Yann Humeau
J Neurosci. 2013 Aug 21; 33(34): 13805–13819. doi: 10.1523/JNEUROSCI.1457-13.2013
PMCID:
PMC6618660
AbstractArticlePDF–3.8M
7.
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity
Caterina Montani, Mariana Ramos-Brossier, Luisa Ponzoni, Laura Gritti, Andrzej W. Cwetsch, Daniela Braida, Yoann Saillour, Benedetta Terragni, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Pierre Billuart, Carlo Sala
J Neurosci. 2017 Jul 12; 37(28): 6606–6627. doi: 10.1523/JNEUROSCI.3775-16.2017
PMCID:
PMC6596553
AbstractArticlePDF–6.8M
8.
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
David K. Breslow, Sascha Hoogendoorn, Adam R. Kopp, David W. Morgens, Brandon K. Vu, Margaret C. Kennedy, Kyuho Han, Amy Li, Gaelen T. Hess, Michael C. Bassik, James K. Chen, Maxence V. Nachury
Nat Genet. Author manuscript; available in PMC 2018 Aug 19.
Published in final edited form as: Nat Genet. 2018 Mar; 50(3): 460–471. Published online 2018 Feb 19. doi: 10.1038/s41588-018-0054-7
PMCID:
PMC5862771
AbstractArticlePDF–2.5M
9.
IL-1R8 is a checkpoint in NK cells regulating anti-tumor and anti-viral activity
Martina Molgora, Eduardo Bonavita, Andrea Ponzetta, Federica Riva, Marialuisa Barbagallo, Sébastien Jaillon, Branka Popovic, Giovanni Bernardini, Elena Magrini, Francesca Gianni, Santiago Zelenay, Stipan Jonjic, Angela Santoni, Cecilia Garlanda, Alberto Mantovani
Nature. Author manuscript; available in PMC 2018 Apr 25.
Published in final edited form as: Nature. 2017 Nov 2; 551(7678): 110–114. Published online 2017 Oct 25. doi: 10.1038/nature24293
PMCID:
PMC5768243
AbstractArticlePDF–3.2M
10.
Mechanisms of splicing-dependent trans-synaptic adhesion by PTPδ–IL1RAPL1/IL-1RAcP for synaptic differentiation
Atsushi Yamagata, Tomoyuki Yoshida, Yusuke Sato, Sakurako Goto-Ito, Takeshi Uemura, Asami Maeda, Tomoko Shiroshima, Shiho Iwasawa-Okamoto, Hisashi Mori, Masayoshi Mishina, Shuya Fukai
Nat Commun. 2015 Apr 24; 6: 6926. Published online 2015 Apr 24. doi: 10.1038/ncomms7926
PMCID:
PMC4423211
AbstractArticlePDF–2.1M
11.
IL1RAPL1 knockout mice show spine density decrease, learning deficiency, hyperactivity and reduced anxiety-like behaviours
Misato Yasumura, Tomoyuki Yoshida, Maya Yamazaki, Manabu Abe, Rie Natsume, Kouta Kanno, Takeshi Uemura, Keizo Takao, Kenji Sakimura, Takefumi Kikusui, Tsuyoshi Miyakawa, Masayoshi Mishina
Sci Rep. 2014; 4: 6613. Published online 2014 Oct 14. doi: 10.1038/srep06613
PMCID:
PMC4196104
AbstractArticlePDF–3.1M
12.
IL1RAPL1 Associated with Mental Retardation and Autism Regulates the Formation and Stabilization of Glutamatergic Synapses of Cortical Neurons through RhoA Signaling Pathway
Takashi Hayashi, Tomoyuki Yoshida, Moonjin Ra, Ryo Taguchi, Masayoshi Mishina
PLoS One. 2013; 8(6): e66254. Published online 2013 Jun 13. doi: 10.1371/journal.pone.0066254
PMCID:
PMC3681934
AbstractArticlePDF–1.5M
13.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
14.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
15.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
16.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
17.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M
18.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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