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Items: 1 to 20 of 21

1.
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Orphanet J Rare Dis. 2024; 19: 113. Published online 2024 Mar 12. doi: 10.1186/s13023-024-03116-x
PMCID:
PMC10935773
AbstractArticlePDF–1.9M
2.
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
AbstractArticlePDF–3.1M
3.
The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase–LRP4 receptor complex by agrin at the neuromuscular junction
Thi Minh Uyen Dao, Susie Barbeau, Julien Messéant, Bruno Della-Gaspera, Tahar Bouceba, Fannie Semprez, Claire Legay, Alexandre Dobbertin
J Biol Chem. 2023 Aug; 299(8): 104962. Published online 2023 Jun 23. doi: 10.1016/j.jbc.2023.104962
PMCID:
PMC10382678
AbstractArticlePDF–3.0M
4.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
5.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
Nicola Laforgia, Lucrezia De Cosmo, Orazio Palumbo, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo, Pierluigi Iapicca, Patrizia Lastella, Manuela Capozza, Federico Schettini, Nenad Bukvic, Rosanna Bagnulo, Nicoletta Resta
Genes (Basel) 2020 Dec; 11(12): 1519. Published online 2020 Dec 18. doi: 10.3390/genes11121519
PMCID:
PMC7765904
AbstractArticlePDF–1.5M
6.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
7.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
8.
Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis
Snaevar Sigurdsson, Kristjan F. Alexandersson, Patrick Sulem, Bjarke Feenstra, Steinunn Gudmundsdottir, Gisli H. Halldorsson, Sigurgeir Olafsson, Asgeir Sigurdsson, Thorunn Rafnar, Thorgeir Thorgeirsson, Erik Sørensen, Andreas Nordholm-Carstensen, Jakob Burcharth, Jens Andersen, Henrik Stig Jørgensen, Emma Possfelt-Møller, Henrik Ullum, Gudmar Thorleifsson, Gisli Masson, Unnur Thorsteinsdottir, Mads Melbye, Daniel F. Gudbjartsson, Tryggvi Stefansson, Ingileif Jonsdottir, Kari Stefansson
Nat Commun. 2017; 8: 15789. Published online 2017 Jun 6. doi: 10.1038/ncomms15789
PMCID:
PMC5467205
AbstractArticlePDF–822K
9.
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G. Engel, Yoram Nevo
Neuromuscul Disord. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Neuromuscul Disord. 2017 Feb; 27(2): 136–140. Published online 2016 Nov 24. doi: 10.1016/j.nmd.2016.11.014
PMCID:
PMC5280189
AbstractArticlePDF–95K
10.
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
Mohammad Alinoor Rahman, Yoshiteru Azuma, Farhana Nasrin, Jun-ichi Takeda, Mohammad Nazim, Khalid Bin Ahsan, Akio Masuda, Andrew G. Engel, Kinji Ohno
Sci Rep. 2015; 5: 13208. Published online 2015 Aug 18. doi: 10.1038/srep13208
PMCID:
PMC4539547
AbstractArticlePDF–1.2M
11.
Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver
Alexandra Naba, Karl R Clauser, Charles A Whittaker, Steven A Carr, Kenneth K Tanabe, Richard O Hynes
BMC Cancer. 2014; 14: 518. Published online 2014 Jul 18. doi: 10.1186/1471-2407-14-518
PMCID:
PMC4223627
AbstractArticlePDF–1.5M
12.
COOH-Terminal Collagen Q (COLQ) Mutants Causing Human Deficiency of Endplate Acetylcholinesterase Impair the Interaction of ColQ with Proteins of the Basal Lamina
Juan Arredondo, Marian Lara, Fiona Ng, Danielle A. Gochez, Diana C. Lee, Stephanie P. Logia, Joanna Nguyen, Ricardo A. Maselli
Hum Genet. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Hum Genet. 2014 May; 133(5): 599–616. Published online 2013 Nov 27. doi: 10.1007/s00439-013-1391-3
PMCID:
PMC4024244
AbstractArticlePDF–2.1M
13.
High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H
HIROO IMAI, SHUNSUKE KATO, YASUHIRO SAKAMOTO, YUICHI KAKUDO, HIDEKI SHIMODAIRA, CHIKASHI ISHIOKA
Oncol Rep. 2014 Mar; 31(3): 1043–1050. Published online 2013 Dec 30. doi: 10.3892/or.2013.2953
PMCID:
PMC3926671
AbstractArticlePDF–692K
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.
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
K Ohno, J M Brengman, K J Felice, D R Cornblath, A G Engel
Am J Hum Genet. 1999 Sep; 65(3): 635–644. doi: 10.1086/302551
PMCID:
PMC1377969
SummaryPDF–565K
16.
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
C Donger, E Krejci, A P Serradell, B Eymard, S Bon, S Nicole, D Chateau, F Gary, M Fardeau, J Massoulié, P Guicheney
Am J Hum Genet. 1998 Oct; 63(4): 967–975. doi: 10.1086/302059
PMCID:
PMC1377491
SummaryPDF–1.3M
17.
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
AbstractArticlePDF–140K
18.
The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix
Hay Dvir, Michal Harel, Suzanne Bon, Wang-Qing Liu, Michel Vidal, Christiane Garbay, Joel L Sussman, Jean Massoulié, Israel Silman
EMBO J. 2004 Nov 10; 23(22): 4394–4405. Published online 2004 Nov 4. doi: 10.1038/sj.emboj.7600425
PMCID:
PMC526459
AbstractArticlePDF–553K
19.
An unappreciated role for RNA surveillance
R Tyler Hillman, Richard E Green, Steven E Brenner
Genome Biol. 2004; 5(2): R8. Published online 2004 Feb 2. doi: 10.1186/gb-2004-5-2-r8
PMCID:
PMC395752
AbstractArticlePDF–378K
20.
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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