PMC Links for GEO Profiles (Select 25075310) - PMC

Select item 113802501.

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva, Stoyan Bichev, Violeta Mihaylova, Stefanie Meyer, Rachel Thompson, Sylvia Cherninkova, Velina Guergueltcheva, Hanns Lochmuller, Ivailo Tournev

J Neuromuscul Dis. 2024; 11(5): 1011–1020. Prepublished online 2024 Jul 4. Published online 2024 Sep 3. doi: 10.3233/JND-230235

PMCID:: PMC11380250

Abstract Article PDF–193K

Select item 81650302.

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 71158683.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

Eduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Clériston José dos Santos, Pedro José Tomaselli, Wilson Marques, Jr, Roberta Paiva Magalhães Ortega, Marcela Câmara Machado Costa, André Macedo Serafim da Silva, Rodrigo Holanda Mendonça, Vitor Marques Caldas, Antonio Alberto Zambon, Osório Abath-Lopes, Paulo Eurípedes Marchiori, Carlos Otto Heise, Umbertina Conti Reed, Yoshitero Azuma, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli

J Neurol. Author manuscript; available in PMC 2020 Jul 30.

Published in final edited form as: J Neurol. 2018 Mar 1; 265(3): 708–713. Published online 2018 Jan 30. doi: 10.1007/s00415-018-8736-8

PMCID:: PMC7115868

Abstract Article PDF–491K

Select item 58212084.

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

Xin-Ming Shen, Joan M. Brengman, Shelley Shen, Hacer Durmus, Veeramani Preethish-Kumar, Nur Yuceyar, Seena Vengalil, Atchayaram Nalini, Feza Deymeer, Steven M. Sine, Andrew G. Engel

JCI Insight. 2018 Jan 25; 3(2): e97826. Published online 2018 Jan 25. doi: 10.1172/jci.insight.97826

PMCID:: PMC5821208

Abstract Article PDF–1.9M

Select item 52801895.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G. Engel, Yoram Nevo

Neuromuscul Disord. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Neuromuscul Disord. 2017 Feb; 27(2): 136–140. Published online 2016 Nov 24. doi: 10.1016/j.nmd.2016.11.014

PMCID:: PMC5280189

Abstract Article PDF–95K

Select item 50215796.

Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating

Xin-Ming Shen, Tatsuya Okuno, Margherita Milone, Kenji Otsuka, Koji Takahashi, Hirofumi Komaki, Elizabeth Giles, Kinji Ohno, Andrew G. Engel

Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 1051–1059. Published online 2016 Aug 21. doi: 10.1002/humu.23043

PMCID:: PMC5021579

Abstract Article PDF–1.5M

Select item 31780597.

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 29981358.

Subunit Symmetry at the Extracellular Domain-Transmembrane Domain Interface in Acetylcholine Receptor Channel Gating

Iva Bruhova, Anthony Auerbach

J Biol Chem. 2010 Dec 10; 285(50): 38898–38904. Published online 2010 Sep 23. doi: 10.1074/jbc.M110.169110

PMCID:: PMC2998135

Abstract Article PDF–2.9M

Select item 29672979.

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 275821110.

AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands

Catharina G. Faber, Peter C. Molenaar, Johannes S. H. Vles, Domenic M. Bonifati, Jan J. G. M. Verschuuren, Pieter A. van Doorn, Jan B. M. Kuks, John H. J. Wokke, David Beeson, Marc De Baets

J Neurol. 2009 Oct; 256(10): 1719–1723. Published online 2009 Jun 21. doi: 10.1007/s00415-009-5190-7

PMCID:: PMC2758211

Abstract Article PDF–199K

Select item 269330711.

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 234272612.

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant εL221F, inferred from maximum likelihood fits

C J Hatton, C Shelley, M Brydson, D Beeson, D Colquhoun

J Physiol. 2003 Mar 15; 547(Pt 3): 729–760. Published online 2003 Jan 24. doi: 10.1113/jphysiol.2002.034173

PMCID:: PMC2342726

Abstract Article PDF–943K

Select item 223369213.

Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome

Hai-Long Wang, Kinji Ohno, Margherita Milone, Joan M. Brengman, Amelia Evoli, Anna-Paola Batocchi, Lefkos T. Middleton, Kyproula Christodoulou, Andrew G. Engel, Steven M. Sine

J Gen Physiol. 2000 Sep 1; 116(3): 449–462. doi: 10.1085/jgp.116.3.449

PMCID:: PMC2233692

Abstract Article PDF–217K

Select item 215137214.

Pathogenic point mutations in a transmembrane domain of the ε subunit increase the Ca²⁺ permeability of the human endplate ACh receptor

Amalia Di Castro, Katiuscia Martinello, Francesca Grassi, Fabrizio Eusebi, Andrew G Engel

J Physiol. 2007 Mar 15; 579(Pt 3): 671–677. Published online 2007 Feb 1. doi: 10.1113/jphysiol.2007.127977

PMCID:: PMC2151372

Abstract Article PDF–573K

Select item 185285015.

Postsynaptic chromatin is under neural control at the neuromuscular junction

Aymeric Ravel-Chapuis, Marie Vandromme, Jean-Luc Thomas, Laurent Schaeffer

EMBO J. 2007 Feb 21; 26(4): 1117–1128. Published online 2007 Feb 15. doi: 10.1038/sj.emboj.7601572

PMCID:: PMC1852850

Abstract Article PDF–362K

Select item 177969416.

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

Abstract Article PDF–486K

Select item 118204717.

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Agnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, Jeff Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva

Am J Hum Genet. 2004 Oct; 75(4): 596–609. Published online 2004 Aug 20. doi: 10.1086/424759

PMCID:: PMC1182047

Abstract Article PDF–312K

Select item 11706218.

Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution

Ippeita Dan, Norinobu M. Watanabe, Eriko Kajikawa, Takafumi Ishida, Akhilesh Pandey, Akihiro Kusumi

Nucleic Acids Res. 2002 Jul 1; 30(13): 2906–2910. doi: 10.1093/nar/gkf407

PMCID:: PMC117062

Abstract Article PDF–288K

Select item 4269919.

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

K Ohno, D O Hutchinson, M Milone, J M Brengman, C Bouzat, S M Sine, A G Engel

Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3): 758–762. doi: 10.1073/pnas.92.3.758

PMCID:: PMC42699

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