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Items: 1 to 20 of 21

1.
A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671
MA Luther, R Schoepfer, P Whiting, B Casey, Y Blatt, MS Montal, M Montal, J Linstrom
J Neurosci. 1989 Mar 1; 9(3): 1082–1096. doi: 10.1523/JNEUROSCI.09-03-01082.1989
PMCID:
PMC6569985
AbstractPDF–2.7M
2.
Novel Delta Subunit Mutation in Slow-Channel Syndrome Causes Severe Weakness by Novel Mechanisms
Christopher M. Gomez, Ricardo A. Maselli, Bhupinder P. S. Vohra, Manuel Navedo, Joel R. Stiles, Pierre Charnet, Kelly Schott, Legier Rojas, John Keesey, Anthony Verity, Robert W. Wollmann, Jose Lasalde-Dominicci
Ann Neurol. Author manuscript; available in PMC 2016 Apr 22.
Published in final edited form as: Ann Neurol. 2002 Jan; 51(1): 102–112. doi: 10.1002/ana.10077
PMCID:
PMC4841278
AbstractArticlePDF–951K
3.
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates
Xin-Ming Shen, Joan Brengman, David Neubauer, Steven M. Sine, Andrew G. Engel
J Biol Chem. 2016 Feb 12; 291(7): 3291–3301. Published online 2015 Dec 23. doi: 10.1074/jbc.M115.683995
PMCID:
PMC4751375
AbstractArticlePDF–1.8M
4.
Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating
Xin-Ming Shen, Taku Fukuda, Kinji Ohno, Steven M. Sine, Andrew G. Engel
J Clin Invest. 2008 May 1; 118(5): 1867–1876. Published online 2008 Apr 8. doi: 10.1172/JCI34527
PMCID:
PMC2289798
AbstractArticlePDF–1.0M
5.
Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
Sharon Brownlow, Richard Webster, Rebecca Croxen, Martin Brydson, Brian Neville, Jean-Pierre Lin, Angela Vincent, John Newsom-Davis, David Beeson
J Clin Invest. 2001 Jul 1; 108(1): 125–130. doi: 10.1172/JCI12935
PMCID:
PMC209343
AbstractArticlePDF–639K
6.
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
AbstractArticlePDF–300K
7.
Determinants in the β and δ Subunit Cytoplasmic Loop Regulate Golgi Trafficking and Surface Expression of the Muscle Acetylcholine Receptor
Jolene Chang Rudell, Lucia S. Borges, John B. Rudell, Kenneth A. Beck, Michael J. Ferns
J Biol Chem. 2014 Jan 3; 289(1): 203–214. Published online 2013 Nov 15. doi: 10.1074/jbc.M113.502328
PMCID:
PMC3879544
AbstractArticlePDF–1.6M
8.
Peer Smoking and the Nicotinic Receptor Genes: An Examination of Genetic and Environmental Risks for Nicotine Dependence
Eric O. Johnson, Li-Shiun Chen, Naomi Breslau, Dorothy Hatsukami, Tania Robbins, Nancy L. Saccone, Richard A. Grucza, Laura J. Bierut
Addiction. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Addiction. 2010 Nov; 105(11): 2014–2022. Published online 2010 Sep 15. doi: 10.1111/j.1360-0443.2010.03074.x
PMCID:
PMC2970633
AbstractArticlePDF–355K
9.
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
PMCID:
PMC2253973
AbstractArticlePDF–642K
10.
Human α4β2 Neuronal Nicotinic Acetylcholine Receptor in HEK 293 Cells: A Patch-Clamp Study
Bruno Buisson, Murali Gopalakrishnan, Stephen P. Arneric, James P. Sullivan, Daniel Bertrand
J Neurosci. 1996 Dec 15; 16(24): 7880–7891. doi: 10.1523/JNEUROSCI.16-24-07880.1996
PMCID:
PMC6579202
AbstractArticlePDF–431K
11.
A Single Mutation in the Acetylcholine Receptor δ-Subunit Causes Distinct Effects in Two Types of Neuromuscular Synapses
Jee-Young Park, Meghan Mott, Tory Williams, Hiromi Ikeda, Hua Wen, Michael Linhoff, Fumihito Ono
J Neurosci. 2014 Jul 30; 34(31): 10211–10218. doi: 10.1523/JNEUROSCI.0426-14.2014
PMCID:
PMC4115133
AbstractArticlePDF–2.7M
12.
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
AbstractArticlePDF–2.1M
13.
Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans
Nancy L. Saccone, Tae-Hwi Schwantes-An, Jen C. Wang, Richard A. Grucza, Naomi Breslau, Dorothy Hatsukami, Eric O. Johnson, John P. Rice, Alison M. Goate, Laura J. Bierut
Genes Brain Behav. Author manuscript; available in PMC 2011 Oct 1.
Published in final edited form as: Genes Brain Behav. 2010 Oct; 9(7): 741–750. Published online 2010 Jul 22. doi: 10.1111/j.1601-183X.2010.00608.x
PMCID:
PMC2970751
AbstractArticlePDF–333K
14.
Multiple Distinct Risk Loci for Nicotine Dependence Identified by Dense Coverage of the Complete Family of Nicotinic Receptor Subunit (CHRN) Genes
Nancy L. Saccone, Scott F. Saccone, Anthony L. Hinrichs, Jerry A. Stitzel, Weimin Duan, Michele L. Pergadia, Arpana Agrawal, Naomi Breslau, Richard A. Grucza, Dorothy Hatsukami, Eric O. Johnson, Pamela A. F. Madden, Gary E. Swan, Jen C. Wang, Alison M. Goate, John P. Rice, Laura J. Bierut
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2010 Jun 5.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5; 150B(4): 453–466. doi: 10.1002/ajmg.b.30828
PMCID:
PMC2693307
AbstractArticlePDF–1.6M
15.
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
Sergio E. Baranzini, Joanne Wang, Rachel A. Gibson, Nicholas Galwey, Yvonne Naegelin, Frederik Barkhof, Ernst-Wilhelm Radue, Raija L.P. Lindberg, Bernard M.G. Uitdehaag, Michael R. Johnson, Aspasia Angelakopoulou, Leslie Hall, Jill C. Richardson, Rab K. Prinjha, Achim Gass, Jeroen J.G. Geurts, Jolijn Kragt, Madeleine Sombekke, Hugo Vrenken, Pamela Qualley, Robin R. Lincoln, Refujia Gomez, Stacy J. Caillier, Michaela F. George, Hourieh Mousavi, Rosa Guerrero, Darin T. Okuda, Bruce A. C. Cree, Ari J. Green, Emmanuelle Waubant, Douglas S. Goodin, Daniel Pelletier, Paul M. Matthews, Stephen L. Hauser, Ludwig Kappos, Chris H. Polman, Jorge R. Oksenberg
Hum Mol Genet. 2009 Feb 15; 18(4): 767–778. Published online 2008 Nov 14. doi: 10.1093/hmg/ddn388
PMCID:
PMC4334814
AbstractArticlePDF–274K
16.
A large-scale candidate-gene association study of age at menarche and age at natural menopause
Chunyan He, Peter Kraft, Daniel I. Chasman, Julie E. Buring, Constance Chen, Susan E. Hankinson, Guillaume Paré, Stephen Chanock, Paul M. Ridker, David J. Hunter
Hum Genet. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Hum Genet. 2010 Nov; 128(5): 515–527. Published online 2010 Aug 24. doi: 10.1007/s00439-010-0878-4
PMCID:
PMC2967297
AbstractArticlePDF–84K
17.
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
AbstractArticlePDF–2.7M
18.
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
AbstractArticlePDF–2.2M
19.
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
AbstractArticlePDF–140K
20.
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
AbstractArticlePDF–118K

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