PMC Links for GEO Profiles (Select 5773131) - PMC

Select item 106713211.

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay

Int J Mol Sci. 2023 Nov; 24(22): 16217. Published online 2023 Nov 11. doi: 10.3390/ijms242216217

PMCID:: PMC10671321

Abstract Article PDF–3.1M

Select item 66325272.

ColQ Controls Postsynaptic Differentiation at the Neuromuscular Junction

Séverine M. Sigoillot, Francine Bourgeois, Monique Lambergeon, Laure Strochlic, Claire Legay

J Neurosci. 2010 Jan 6; 30(1): 13–23. doi: 10.1523/JNEUROSCI.4374-09.2010

PMCID:: PMC6632527

Abstract Article PDF–1.5M

Select item 66068503.

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

Grace M McMacken, Sally Spendiff, Roger G Whittaker, Emily O’Connor, Rachel M Howarth, Veronika Boczonadi, Rita Horvath, Clarke R Slater, Hanns Lochmüller

Hum Mol Genet. 2019 Jul 15; 28(14): 2339–2351. Published online 2019 Apr 1. doi: 10.1093/hmg/ddz059

PMCID:: PMC6606850

Abstract Article PDF–27M

Select item 57650054.

Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters

Kenyu Ito, Bisei Ohkawara, Hideki Yagi, Hiroaki Nakashima, Mikito Tsushima, Kyotaro Ota, Hiroyuki Konishi, Akio Masuda, Shiro Imagama, Hiroshi Kiyama, Naoki Ishiguro, Kinji Ohno

Sci Rep. 2018; 8: 434. Published online 2018 Jan 11. doi: 10.1038/s41598-017-18753-5

PMCID:: PMC5765005

Abstract Article PDF–7.5M

Select item 47555035.

Distinct localization of Collagen Q and PRiMA forms of Acetylcholinesterase at the neuromuscular junction

Véronique Bernard, Emmanuelle Girard, Anna Hrabovska, Shelley Camp, Palmer Taylor, Benoit Plaud, Eric Krejci

Mol Cell Neurosci. Author manuscript; available in PMC 2016 Feb 16.

Published in final edited form as: Mol Cell Neurosci. 2011 Jan; 46(1): 272–281. Published online 2010 Sep 29. doi: 10.1016/j.mcn.2010.09.010

PMCID:: PMC4755503

Abstract Article PDF–2.6M

Select item 35724106.

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

Abstract Article PDF–1.1M

Select item 33225727.

The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices

Alexandra Naba, Karl R. Clauser, Sebastian Hoersch, Hui Liu, Steven A. Carr, Richard O. Hynes

Mol Cell Proteomics. 2012 Apr; 11(4): M111.014647. Published online 2011 Dec 9. doi: 10.1074/mcp.M111.014647

PMCID:: PMC3322572

Abstract Article PDF–7.3M

Select item 32589528.

Acetylcholinesterase Associates Differently with Its Anchoring Proteins ColQ and PRiMA

Hiba Noureddine, Stéphanie Carvalho, Claudine Schmitt, Jean Massoulié, Suzanne Bon

J Biol Chem. 2008 Jul 25; 283(30): 20722–20732. doi: 10.1074/jbc.M801364200

PMCID:: PMC3258952

Abstract Article PDF–574K

Select item 31780599.

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

Abstract Article PDF–1.0M

Select item 217235910.

MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction

Annie Cartaud, Laure Strochlic, Manuel Guerra, Benoît Blanchard, Monique Lambergeon, Eric Krejci, Jean Cartaud, Claire Legay

J Cell Biol. 2004 May 24; 165(4): 505–515. doi: 10.1083/jcb.200307164

PMCID:: PMC2172359

Abstract Article PDF–2.0M

Select item 215059011.

Genetic Analysis of Collagen Q: Roles in Acetylcholinesterase and Butyrylcholinesterase Assembly and in Synaptic Structure and Function

Guoping Feng, Eric Krejci, Jordi Molgo, Jeanette M. Cunningham, Jean Massoulié, Joshua R. Sanes

J Cell Biol. 1999 Mar 22; 144(6): 1349–1360. doi: 10.1083/jcb.144.6.1349

PMCID:: PMC2150590

Abstract Article PDF–617K

Select item 52892812.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 40371213.

Targeting a Complex Transcriptome: The Construction of the Mouse Full-Length cDNA Encyclopedia

Piero Carninci, Kazunori Waki, Toshiyuki Shiraki, Hideaki Konno, Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Takahiro Arakawa, Yoshiyuki Ishii, Daisuke Sasaki, Hidemasa Bono, Shinji Kondo, Yuichi Sugahara, Rintaro Saito, Naoki Osato, Shiro Fukuda, Kenjiro Sato, Akira Watahiki, Tomoko Hirozane-Kishikawa, Mari Nakamura, Yuko Shibata, Ayako Yasunishi, Noriko Kikuchi, Atsushi Yoshiki, Moriaki Kusakabe, Stefano Gustincich, Kirk Beisel, William Pavan, Vassilis Aidinis, Akira Nakagawara, William A. Held, Hiroo Iwata, Tomohiro Kono, Hiromitsu Nakauchi, Paul Lyons, Christine Wells, David A. Hume, Michela Fagiolini, Takao K. Hensch, Michelle Brinkmeier, Sally Camper, Junji Hirota, Peter Mombaerts, Masami Muramatsu, Yasushi Okazaki, Jun Kawai, Yoshihide Hayashizaki

Genome Res. 2003 Jun; 13(6b): 1273–1289. doi: 10.1101/gr.1119703

PMCID:: PMC403712

Abstract Article PDF–770K

Select item 31099214.

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

Abstract Article PDF–3.4M

Select item 31098015.

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

Abstract Article PDF–1.4M

Select item 13924116.

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

Abstract Article PDF–118K

Select item 2139417.

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Kinji Ohno, Joan Brengman, Akira Tsujino, Andrew G. Engel

Proc Natl Acad Sci U S A. 1998 Aug 4; 95(16): 9654–9659. doi: 10.1073/pnas.95.16.9654

PMCID:: PMC21394

Abstract Article PDF–281K

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