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Select item 79563821.

Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia

Denis Kudryavtsev, Anastasia Isaeva, Daria Barkova, Ekaterina Spirova, Renata Mukhutdinova, Igor Kasheverov, Victor Tsetlin

Molecules. 2021 Mar; 26(5): 1278. Published online 2021 Feb 26. doi: 10.3390/molecules26051278

PMCID:: PMC7956382

Article PDF–5.0M

Select item 50299402.

High Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine Receptor

Paul J. Groot-Kormelink, Sandrine Ferrand, Nicholas Kelley, Anke Bill, Felix Freuler, Pierre-Eloi Imbert, Anthony Marelli, Nicole Gerwin, Lucia G. Sivilotti, Loren Miraglia, Anthony P. Orth, Edward J. Oakeley, Ulrich Schopfer, Sandra Siehler

PLoS One. 2016; 11(9): e0163129. Published online 2016 Sep 20. doi: 10.1371/journal.pone.0163129

PMCID:: PMC5029940

Article PDF–2.1M

Select item 38699103.

Expression of a Highly Antigenic and Native-Like Folded Extracellular Domain of the Human α1 Subunit of Muscle Nicotinic Acetylcholine Receptor, Suitable for Use in Antigen Specific Therapies for Myasthenia Gravis

Athanasios Niarchos, Marios Zouridakis, Vassilis Douris, Assimina Georgostathi, Dimitra Kalamida, Alexandros Sotiriadis, Konstantinos Poulas, Kostas Iatrou, Socrates J. Tzartos

PLoS One. 2013; 8(12): e84791. Published online 2013 Dec 20. doi: 10.1371/journal.pone.0084791

PMCID:: PMC3869910

Article PDF–613K

Select item 37178034.

Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans

Kyle M. Walsh, Christopher I. Amos, Angela S. Wenzlaff, Ivan P. Gorlov, Jennette D. Sison, Xifeng Wu, Margaret R. Spitz, Helen M. Hansen, Emily Y. Lu, Chongjuan Wei, Huifeng Zhang, Wei Chen, Stacy M. Lloyd, Marsha L. Frazier, Paige M. Bracci, Michael F. Seldin, Margaret R. Wrensch, Ann G. Schwartz, John K. Wiencke

Oncotarget. 2012 Nov; 3(11): 1428–1438. Published online 2012 Nov 16. doi: 10.18632/oncotarget.746

PMCID:: PMC3717803

Article PDF–858K

Select item 33868305.

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

Article PDF–1.0M

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

Article PDF–600K

Select item 5519297.

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 4425118.

Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis.

R Hohlfeld, K V Toyka, L L Miner, S L Walgrave, B M Conti-Tronconi

J Clin Invest. 1988 Mar; 81(3): 657–660. doi: 10.1172/JCI113369

PMCID:: PMC442511

Summary Page Browse PDF–839K

Select item 3090979.

Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues.

S Talib, T B Okarma, J S Lebkowski

Nucleic Acids Res. 1993 Jan 25; 21(2): 233–237. doi: 10.1093/nar/21.2.233

PMCID:: PMC309097

Summary Page Browse PDF–1.0M

Select item 15192710.

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

Article PDF–1.4M

Select item 464633211.

Lateral Diffusion, Function, and Expression of the Slow Channel Congenital Myasthenia Syndrome αC418W Nicotinic Receptor Mutation with Changes in Lipid Raft Components

Jessica Oyola-Cintrón, Daniel Caballero-Rivera, Leomar Ballester, Carlos A. Baéz-Pagán, Hernán L. Martínez, Karla P. Vélez-Arroyo, Orestes Quesada, José A. Lasalde-Dominicci

J Biol Chem. 2015 Oct 30; 290(44): 26790–26800. Published online 2015 Sep 9. doi: 10.1074/jbc.M115.678573

PMCID:: PMC4646332

Article PDF–1.1M

Select item 379630612.

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

Article PDF–2.2M

Select item 169786813.

Role of Pairwise Interactions between M1 and M2 Domains of the Nicotinic Receptor in Channel Gating

Jeremías Corradi, Guillermo Spitzmaul, María José De Rosa, Marcelo Costabel, Cecilia Bouzat

Biophys J. 2007 Jan 1; 92(1): 76–86. Published online 2006 Oct 6. doi: 10.1529/biophysj.106.088757

PMCID:: PMC1697868

Article PDF–971K

Select item 657320114.

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

Article PDF–950K

Select item 287813515.

Association of CHRN genes with “dizziness” to tobacco

Marissa A. Ehringer, Matthew B. McQueen, Nicole R. Hoft, Nancy Saccone, Jerry Stitzel, Jen C. Wang, Laura J. Bierut

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2011 Mar 5.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5; 153B(2): 600–609. doi: 10.1002/ajmg.b.31027

PMCID:: PMC2878135

Article PDF–542K

Select item 258706816.

Smokers with the CHRNA Lung Cancer-Associated Variants are Exposed to Higher Levels of Nicotine Equivalents and a Carcinogenic Tobacco-Specific Nitrosamine

Loïc Le Marchand, Kiersten S. Derby, Sharon E. Murphy, Stephen S. Hecht, Dorothy Hatsukami, Steven G. Carmella, Maarit Tiirikainen, Hansong Wang

Cancer Res. Author manuscript; available in PMC 2009 Nov 15.

Published in final edited form as: Cancer Res. 2008 Nov 15; 68(22): 9137–9140. doi: 10.1158/0008-5472.CAN-08-2271

PMCID:: PMC2587068

Article PDF–299K

Select item 247867917.

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy, Nanette Steinle

BMC Med Genet. 2008; 9: 67. Published online 2008 Jul 14. doi: 10.1186/1471-2350-9-67

PMCID:: PMC2478679

Article PDF–300K

Select item 266637818.

Examination of the Nicotine Dependence (NICSNP) Consortium findings in the Iowa adoption studies population

Robert A. Philibert, Alexandre Todorov, Allan Andersen, Nancy Hollenbeck, Tracy Gunter, Andrew Heath, Pamela Madden

Nicotine Tob Res. 2009 Mar; 11(3): 286–292. Published online 2009 Mar 23. doi: 10.1093/ntr/ntn034

PMCID:: PMC2666378

Article PDF–118K

Select item 225397319.

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher

Am J Hum Genet. 2008 Jan 10; 82(1): 222–227. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.016