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Select item 81650301.

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

Abstract Article PDF–2.2M

Select item 65792022.

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

Abstract Article PDF–431K

Select item 65699853.

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

Abstract PDF–2.7M

Select item 55316114.

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

Abstract Article PDF–2.7M

Select item 48412785.

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

Abstract Article PDF–951K

Select item 47513756.

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

Abstract Article PDF–1.8M

Select item 43348147.

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

Abstract Article PDF–274K

Select item 41151338.

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

Abstract Article PDF–2.7M

Select item 38795449.

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

Abstract Article PDF–1.6M

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 297075111.

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

Abstract Article PDF–333K

Select item 297063312.

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

Abstract Article PDF–355K

Select item 296729713.

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

Abstract Article PDF–84K

Select item 269330714.

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

Abstract Article PDF–1.6M

Select item 247867915.

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

Abstract Article PDF–300K

Select item 242725516.

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 228979817.

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

Abstract Article PDF–1.0M

Select item 225397318.

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

Abstract Article PDF–642K

Select item 52892819.

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

Abstract Article PDF–140K

Select item 20934320.

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

Abstract Article PDF–639K

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