PMC Links for Gene (Select 8292) - PMC

Links from Gene

Items: 1 to 20 of 21

<< First< Prev

Page of 2

Select item 109357731.

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

Abstract Article PDF–1.9M

Select item 77659042.

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

Abstract Article PDF–1.5M

Select item 40242443.

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

Abstract Article PDF–2.1M

Select item 13779694.

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

Summary PDF–565K

Select item 13774915.

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

Summary PDF–1.3M

Select item 106713216.

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 54672057.

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

Abstract Article PDF–822K

Select item 52801898.

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

Abstract Article PDF–95K

Select item 45395479.

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

Abstract Article PDF–1.2M

Select item 52645910.

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

Abstract Article PDF–553K

Select item 1038267811.

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

Abstract Article PDF–3.0M

Select item 2139412.

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

Select item 392667113.

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

Abstract Article PDF–692K

Select item 39575214.

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

Abstract Article PDF–378K

Select item 422362715.

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

Abstract Article PDF–1.5M

Select item 716998316.

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

Abstract Article PDF–5.4M

Select item 553161117.

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

Abstract Article PDF–2.7M

Select item 816503018.

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

Abstract Article PDF–2.2M

Select item 52892819.

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 13924120.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 21

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity