PMC Articles for MedGen (Select 419336) - PMC

Select item 17796941.

The human adult subtype ACh receptor channel has high Ca²⁺ permeability and predisposes to endplate Ca²⁺ overloading

Sergio Fucile, Antonietta Sucapane, Francesca Grassi, Fabrizio Eusebi, Andrew G Engel

J Physiol. 2006 May 15; 573(Pt 1): 35–43. Published online 2006 Mar 9. doi: 10.1113/jphysiol.2006.108092

PMCID:: PMC1779694

Select item 46361142.

Novel β subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation

Manuel F. Navedo, José A. Lasalde-Dominicci, Carlos A. Báez-Pagán, Luzed Díaz-Pérez, Legier V. Rojas, Ricardo A. Maselli, Julie Staub, Kelly Schott, Roberto Zayas, Christopher M. Gomez

Mol Cell Neurosci. Author manuscript; available in PMC 2015 Nov 6.

Published in final edited form as: Mol Cell Neurosci. 2006 May-Jun; 32(0): 82–90. Published online 2006 Apr 19. doi: 10.1016/j.mcn.2006.02.004

PMCID:: PMC4636114

Abstract Article PDF–2.3M

Select item 33868403.

Pharmacogenomics: mapping monogenic mutations to direct therapy

Palmer Taylor

J Clin Invest. 2012 Jul 2; 122(7): 2356–2358. Published online 2012 Jun 25. doi: 10.1172/JCI64409

PMCID:: PMC3386840

Abstract Article PDF–756K

Select item 1838314.

Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen

Gaye T Adams, Harold Snieder, Virgil C McKie, Betsy Clair, Donald Brambilla, Robert J Adams, Ferdane Kutlar, Abdullah Kutlar

BMC Med Genet. 2003; 4: 6. Published online 2003 Jul 18. doi: 10.1186/1471-2350-4-6

PMCID:: PMC183831

Abstract Article PDF–295K

Select item 24272555.

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, Raoul Heller, Katrin Hoffmann

Am J Hum Genet. 2008 Feb 8; 82(2): 464–476. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.006

PMCID:: PMC2427255

Abstract Article PDF–2.1M

Select item 26385756.

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Akio Masuda, Xin-Ming Shen, Mikako Ito, Tohru Matsuura, Andrew G. Engel, Kinji Ohno

Hum Mol Genet. 2008 Dec 15; 17(24): 4022–4035. Published online 2008 Sep 20. doi: 10.1093/hmg/ddn305

PMCID:: PMC2638575

Abstract Article PDF–600K

Select item 26557717.

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

Yang Bian, Akio Masuda, Tohru Matsuura, Mikako Ito, Kazuya Okushin, Andrew G. Engel, Kinji Ohno

Hum Mol Genet. 2009 Apr 1; 18(7): 1229–1237. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp023

PMCID:: PMC2655771

Abstract Article PDF–238K

Select item 26680698.

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, Sandra T. Cooper, Biljana Ilkovski, Kristi J. Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C. Froehner, Kathryn N. North

Am J Hum Genet. 2008 Dec 12; 83(6): 714–724. Published online 2008 Dec 5. doi: 10.1016/j.ajhg.2008.10.022

PMCID:: PMC2668069

Abstract Article PDF–1.1M

Select item 33868309.

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

Xin-Ming Shen, Joan M. Brengman, Steven M. Sine, Andrew G. Engel

J Clin Invest. 2012 Jul 2; 122(7): 2613–2621. Published online 2012 Jun 25. doi: 10.1172/JCI63415

PMCID:: PMC3386830

Abstract Article PDF–1.0M

Select item 996105610.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Kinji Ohno, Bisei Ohkawara, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel

Int J Mol Sci. 2023 Feb; 24(4): 3730. Published online 2023 Feb 13. doi: 10.3390/ijms24043730

PMCID:: PMC9961056

Abstract Article PDF–3.3M

Select item 379630611.

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA

Mohammad Alinoor Rahman, Akio Masuda, Kenji Ohe, Mikako Ito, David O. Hutchinson, Akila Mayeda, Andrew G. Engel, Kinji Ohno

Sci Rep. 2013; 3: 2931. Published online 2013 Oct 14. doi: 10.1038/srep02931

PMCID:: PMC3796306

Abstract Article PDF–2.2M

Select item 477608912.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324

Correction in:: Neurology. 2016 Mar 15; 86(11): 1077.

PMCID:: PMC4776089

Abstract Article PDF–910K

Select item 680031713.

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

Hakan Cetin, Max Epstein, Wei W. Liu, Susan Maxwell, Pedro M. Rodriguez Cruz, Judith Cossins, Angela Vincent, Richard Webster, Philip C. Biggin, David Beeson

Proc Natl Acad Sci U S A. 2019 Oct 15; 116(42): 21228–21235. Published online 2019 Sep 30. doi: 10.1073/pnas.1908284116

PMCID:: PMC6800317

Abstract Article PDF–1.6M

Select item 765551914.

Identification of stage I/IIA melanoma patients at high risk for disease relapse using a clinicopathologic and gene expression model

Alexander M. M. Eggermont, Domenico Bellomo, Suzette M. Arias-Mejias, Enrica Quattrocchi, Sindhuja Sominidi-Damodaran, Alina G. Bridges, Julia S. Lehman, Tina J. Hieken, James W. Jakub, Dennis H. Murphree, Mark R. Pittelkow, Jason C. Sluzevich, Mark A. Cappel, Sanjay P. Bagaria, Charles Perniciaro, Félicia J. Tjien-Fooh, Barbara Rentroia-Pacheco, Renske Wever, Martin H. van Vliet, Jvalini Dwarkasing, Alexander Meves

Eur J Cancer. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Eur J Cancer. 2020 Nov; 140: 11–18. Published online 2020 Oct 5. doi: 10.1016/j.ejca.2020.08.029

PMCID:: PMC7655519

Abstract Article PDF–834K

Select item 804590815.

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Yawen Zhao, Ying Li, Yang Bian, Sheng Yao, Penju Liu, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan

Ann Clin Transl Neurol. 2021 Apr; 8(4): 898–907. Published online 2021 Mar 23. doi: 10.1002/acn3.51346

PMCID:: PMC8045908

Abstract Article PDF–1.0M

Select item 884275716.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 323771517.

Skeletal Muscle IP₃R₁ Receptors Amplify Physiological and Pathological Synaptic Calcium Signals

Haipeng Zhu, Bula J. Bhattacharyya, Hong Lin, Christopher M. Gomez

J Neurosci. 2011 Oct 26; 31(43): 15269–15283. doi: 10.1523/JNEUROSCI.3766-11.2011

PMCID:: PMC3237715

Abstract Article PDF–3.2M

Select item 657356818.

Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction

Christopher M. Gomez, Ricardo Maselli, Jo Ellen Gundeck, Mary Chao, John W. Day, Shiori Tamamizu, Jose A. Lasalde, Mark McNamee, Robert L. Wollmann

J Neurosci. 1997 Jun 1; 17(11): 4170–4179. doi: 10.1523/JNEUROSCI.17-11-04170.1997

PMCID:: PMC6573568

Abstract Article PDF–1.1M

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