PMC Links for OMIM (Select 100690) - PMC

Select item 65732011.

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

Margherita Milone, Hai-Long Wang, Kinji Ohno, Takayasu Fukudome, J. Ned Pruitt, Nina Bren, Steven M. Sine, Andrew G. Engel

J Neurosci. 1997 Aug 1; 17(15): 5651–5665. doi: 10.1523/JNEUROSCI.17-15-05651.1997

PMCID:: PMC6573201

Abstract Article PDF–950K

Select item 52958212.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 26385753.

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 26299284.

On the nature of partial agonism in the nicotinic receptor superfamily

Remigijus Lape, David Colquhoun, Lucia G. Sivilotti

Nature. Author manuscript; available in PMC 2009 Feb 7.

Published in final edited form as: Nature. 2008 Aug 7; 454(7205): 722–727. Published online 2008 Jul 16. doi: 10.1038/nature07139

PMCID:: PMC2629928

Abstract Article PDF–1.1M

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 5519296.

The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon.

D Beeson, A Morris, A Vincent, J Newsom-Davis

EMBO J. 1990 Jul; 9(7): 2101–2106. doi: 10.1002/j.1460-2075.1990.tb07378.x

PMCID:: PMC551929

Summary Page Browse PDF–1.2M

Select item 1519277.

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating

Xin-Ming Shen, Kinji Ohno, Akira Tsujino, Joan M. Brengman, Monique Gingold, Steven M. Sine, Andrew G. Engel

J Clin Invest. 2003 Feb 15; 111(4): 497–505. doi: 10.1172/JCI16997

PMCID:: PMC151927

Abstract Article PDF–1.4M

Select item 438498.

Involvement of human muscle acetylcholine receptor alpha-subunit gene (CHRNA) in susceptibility to myasthenia gravis.

H J Garchon, F Djabiri, J P Viard, P Gajdos, J F Bach

Proc Natl Acad Sci U S A. 1994 May 24; 91(11): 4668–4672. doi: 10.1073/pnas.91.11.4668

PMCID:: PMC43849

Summary Page Browse PDF–997K

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