PMC Links for Gene (Select 4593) - PMC

Pedro M. Rodríguez Cruz, Judith Cossins, Jonathan Cheung, Susan Maxwell, Sandeep Jayawant, Ruth Herbst, Dominic Waithe, Alexandr P. Kornev, Jacqueline Palace, David Beeson

Hum Mutat. 2020 Mar; 41(3): 619–631. Published online 2019 Nov 25. doi: 10.1002/humu.23949

PMCID:: PMC7028094

Abstract Article PDF–5.9M

Select item 69245664.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 20.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 655–658. Published online 2019 Feb 4. doi: 10.1002/ajmg.a.61060

PMCID:: PMC6924566

Abstract Article PDF–49K

Select item 57938855.

Mechanisms underlying B cell immune dysregulation and autoantibody production in MuSK MG

Panos Stathopoulos, Aditya Kumar, Jason A. Vander Heiden, Elba Pascual-Goñi, Richard J. Nowak, Kevin C. O’Connor

Ann N Y Acad Sci. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Ann N Y Acad Sci. 2018 Jan; 1412(1): 154–165. doi: 10.1111/nyas.13535

PMCID:: PMC5793885

Abstract Article PDF–1.2M

Select item 44039926.

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

Vuslat Yilmaz, Piraye Oflazer, Fikret Aysal, Hacer Durmus, Kostas Poulas, Sibel P. Yentur, Yesim Gulsen-Parman, Socrates Tzartos, Alexander Marx, Erdem Tuzun, Feza Deymeer, Güher Saruhan-Direskeneli

PLoS One. 2015; 10(4): e0123546. Published online 2015 Apr 20. doi: 10.1371/journal.pone.0123546

PMCID:: PMC4403992

Abstract Article PDF–274K

Select item 40189857.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Constanze Gallenmüller, Wolfgang Müller-Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S. Müller, Hanns Lochmüller, Angela Abicht

Neuromuscul Disord. 2014 Jan; 24(1): 31–35. doi: 10.1016/j.nmd.2013.08.002

PMCID:: PMC4018985

Abstract Article

Select item 39233688.

Structure and Activation of MuSK, a Receptor Tyrosine Kinase Central to Neuromuscular Junction Formation

Stevan R. Hubbard, Kavitha Gnanasambandan

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Biochim Biophys Acta. 2013 Oct; 1834(10): 2166–2169. Published online 2013 Mar 5. doi: 10.1016/j.bbapap.2013.02.034

PMCID:: PMC3923368

Abstract Article PDF–677K

Select item 38869729.

Stable Expression of Human Muscle-Specific Kinase in HEp-2 M4 Cells for Automatic Immunofluorescence Diagnostics of Myasthenia Gravis

Sandra George, Silvia Paulick, Ilka Knütter, Nadja Röber, Rico Hiemann, Dirk Roggenbuck, Karsten Conrad, Jan-Heiner Küpper

PLoS One. 2014; 9(1): e83924. Published online 2014 Jan 9. doi: 10.1371/journal.pone.0083924

PMCID:: PMC3886972

Abstract Article PDF–730K

Select item 354134410.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, Daniel Hantaï

PLoS One. 2013; 8(1): e53826. Published online 2013 Jan 9. doi: 10.1371/journal.pone.0053826

Correction in:: PLoS One. 2013; 8(9): 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f.

PMCID:: PMC3541344

Abstract Article PDF–2.7M

Select item 275155011.

The Effect of Plasma From Muscle-Specific Tyrosine Kinase Myasthenia Patients on Regenerating Endplates

W. Pascale ter Beek, Pilar Martínez-Martínez, Mario Losen, Marc H. de Baets, Axel R. Wintzen, Jan J.G.M. Verschuuren, Erik H. Niks, Sjoerd G. van Duinen, Angela Vincent, Peter C. Molenaar

Am J Pathol. 2009 Oct; 175(4): 1536–1544. doi: 10.2353/ajpath.2009.090040

PMCID:: PMC2751550

Abstract Article PDF–380K

Select item 1011737812.

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

Shaochuan Zhang, Bisei Ohkawara, Mikako Ito, Zhizhou Huang, Fei Zhao, Tomohiko Nakata, Tomoya Takeuchi, Hidetoshi Sakurai, Hirofumi Komaki, Masayoshi Kamon, Toshiyuki Araki, Kinji Ohno

Hum Mol Genet. 2023 May 1; 32(9): 1511–1523. Published online 2022 Dec 29. doi: 10.1093/hmg/ddac306

PMCID:: PMC10117378

Abstract Article PDF–2.2M

Select item 453820813.

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

M Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, Frank Baas, Johanna I de Vries, J Patrick van der Voorn, Irma Kluijt, Marleen A Hagen, Eveline W Blom, Erik Sistermans, Hanne Meijers-Heijboer, Quinten Waisfisz, Marjan M Weiss, Alexander J Groffen

Eur J Hum Genet. 2015 Sep; 23(9): 1151–1157. Published online 2014 Dec 24. doi: 10.1038/ejhg.2014.273

PMCID:: PMC4538208

Abstract Article PDF–2.6M

Select item 216947814.

Distinct Domains of Musk Mediate Its Abilities to Induce and to Associate with Postsynaptic Specializations

Heather Zhou, David J. Glass, George D. Yancopoulos, Joshua R. Sanes

J Cell Biol. 1999 Sep 6; 146(5): 1133–1146. doi: 10.1083/jcb.146.5.1133

PMCID:: PMC2169478

Abstract Article PDF–1.5M

Select item 382063415.

MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters

Inga Koneczny, Judith Cossins, Patrick Waters, David Beeson, Angela Vincent

PLoS One. 2013; 8(11): e80695. Published online 2013 Nov 7. doi: 10.1371/journal.pone.0080695

PMCID:: PMC3820634

Abstract Article PDF–2.1M

Select item 335950016.

The formation of complex acetylcholine receptor clusters requires MuSK kinase activity and structural information from the MuSK extracellular domain

Sania Mazhar, Ruth Herbst

Mol Cell Neurosci. 2012 Apr; 49(4): 475–486. doi: 10.1016/j.mcn.2011.12.007

PMCID:: PMC3359500

Abstract Article

Select item 217235917.

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 1038267818.

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 524237619.

MuSK is a BMP co-receptor that shapes BMP responses and calcium signaling in muscle cells

Atilgan Yilmaz, Chandramohan Kattamuri, Rana N. Ozdeslik, Carolyn Schmiedel, Sarah Mentzer, Christoph Schorl, Elena Oancea, Thomas B. Thompson, Justin R. Fallon

Sci Signal. Author manuscript; available in PMC 2017 Jan 18.

Published in final edited form as: Sci Signal. 2016 Sep 6; 9(444): ra87. Published online 2016 Sep 6. doi: 10.1126/scisignal.aaf0890

PMCID:: PMC5242376

Abstract Article PDF–2.2M

Select item 421389020.

HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform

Farhana Nasrin, Mohammad Alinoor Rahman, Akio Masuda, Kenji Ohe, Jun-ichi Takeda, Kinji Ohno

Sci Rep. 2014; 4: 6841. Published online 2014 Oct 30. doi: 10.1038/srep06841

PMCID:: PMC4213890

Abstract Article PDF–3.8M

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