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Select item 93042301.

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

Florian D. Vogel, Martin Krenn, Dominik S. Westphal, Elisabeth Graf, Matias Wagner, Steffen Leiz, Filip Koniuszewski, Maximilian Augé‐Stock, Georg Kramer, Petra Scholze, Margot Ernst

Epilepsia. 2022 Apr; 63(4): e35–e41. Published online 2022 Feb 12. doi: 10.1111/epi.17188

PMCID:: PMC9304230

Abstract Article PDF–875K

Select item 76125932.

Differential assembly diversifies GABA_A receptor structures and signalling

Andrija Sente, Rooma Desai, Katerina Naydenova, Tomas Malinauskas, Youssef Jounaidi, Jonas Miehling, Xiaojuan Zhou, Simonas Masiulis, Steven W. Hardwick, Dimitri Y. Chirgadze, Keith W. Miller, A. Radu Aricescu

Nature. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Nature. 2022 Apr 1; 604(7904): 190–194. Published online 2022 Mar 30. doi: 10.1038/s41586-022-04517-3

PMCID:: PMC7612593

Abstract Article PDF–5.7M

Select item 68316283.

Steady-state activation of the high-affinity isoform of the α4β2δ GABA_A receptor

Spencer R. Pierce, Thomas C. Senneff, Allison L. Germann, Gustav Akk

Sci Rep. 2019; 9: 15997. Published online 2019 Nov 5. doi: 10.1038/s41598-019-52573-z

PMCID:: PMC6831628

Abstract Article PDF–1.2M

Select item 60777224.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 57923175.

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

Anthony J. Griswold, Derek Van Booven, Michael Cuccaro, Jonathan L. Haines, John R. Gilbert, Margaret A. Pericak-Vance

Neurogenetics. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Neurogenetics. 2018 Jan; 19(1): 17–26. Published online 2017 Nov 18. doi: 10.1007/s10048-017-0529-1

PMCID:: PMC5792317

Abstract Article PDF–503K

Select item 40248676.

Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABA_A receptors

Armen M. Abramian, Eydith Comenencia-Ortiz, Amit Modgil, Thuy N. Vien, Yasuko Nakamura, Yvonne E. Moore, Jamie L. Maguire, Miho Terunuma, Paul A. Davies, Stephen J. Moss

Proc Natl Acad Sci U S A. 2014 May 13; 111(19): 7132–7137. Published online 2014 Apr 28. doi: 10.1073/pnas.1403285111

PMCID:: PMC4024867

Abstract Article PDF–1.0M

Select item 39965377.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva

Nat Commun. 2014; 5: 3650. Published online 2014 Apr 11. doi: 10.1038/ncomms4650

Correction in:: Nat Commun. 2023; 14: 569.

PMCID:: PMC3996537

Abstract Article PDF–1.9M

Select item 39670968.

Strong genetic evidence for a selective influence of GABA_A receptors on a component of the bipolar disorder phenotype

Nick Craddock, Lisa Jones, Ian R Jones, George Kirov, Elaine K Green, Detelina Grozeva, Valentina Moskvina, Ivan Nikolov, Marian L Hamshere, Damjan Vukcevic, Sian Caesar, Katharine Gordon-Smith, Christine Fraser, Ellie Russell, Nadine Norton, Gerome Breen, David St Clair, David A Collier, Allan H Young, I Nicol Ferrier, Anne Farmer, Peter McGuffin, Peter A Holmans, Wellcome Trust Case Control Consortium (WTCCC), Peter Donnelly, Michael J Owen, Michael C O’Donovan

Mol Psychiatry. Author manuscript; available in PMC 2014 Mar 27.

Published in final edited form as: Mol Psychiatry. 2010 Feb; 15(2): 146–153. Published online 2008 Jul 1. doi: 10.1038/mp.2008.66

Correction in:: volume 15 on page 1121

PMCID:: PMC3967096

Abstract Article PDF–103K

Select item 38919629.

Tonic Inhibition of Accumbal Spiny Neurons by Extrasynaptic α4βδ GABA_A Receptors Modulates the Actions of Psychostimulants

Edward P. Maguire, Tom Macpherson, Jerome D. Swinny, Claire I. Dixon, Murray B. Herd, Delia Belelli, David N. Stephens, Sarah L. King, Jeremy J. Lambert

J Neurosci. 2014 Jan 15; 34(3): 823–838. doi: 10.1523/JNEUROSCI.3232-13.2014

PMCID:: PMC3891962

Abstract Article PDF–7.5M

Select item 366359310.

How Phenotype and Developmental Stage Affect the Genes We Find: GABRA2 and Impulsivity

Danielle M. Dick, Fazil Aliev, Shawn Latendresse, Bernice Porjesz, Marc Schuckit, Madhavi Rangaswamy, Victor Hesselbrock, Howard Edenberg, John Nurnberger, Jr., Arpana Agrawal, Laura Bierut, Jen Wang, Kathy Bucholz, Samuel Kuperman, John Kramer

Twin Res Hum Genet. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Twin Res Hum Genet. 2013 Jun; 16(3): 661–669. Published online 2013 Apr 8. doi: 10.1017/thg.2013.20

PMCID:: PMC3663593

Abstract Article PDF–303K

Select item 326170811.

Toward an understanding of the protein interaction network of the human liver

Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang

Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67

Correction in:: Mol Syst Biol. 2017 Dec; 13(12): 965.

PMCID:: PMC3261708

Abstract Article PDF–2.0M

Select item 319082612.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

Select item 317805913.

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 296315414.

Association Study of 182 Candidate Genes in Anorexia Nervosa

Andrea Poyastro Pinheiro, Cynthia M. Bulik, Laura M. Thornton, Patrick F. Sullivan, Tammy L. Root, Cinnamon S. Bloss, Wade H. Berrettini, Nicholas J. Schork, Walter H. Kaye, Andrew W. Bergen, Pierre Magistretti, Harry Brandt, Steve Crawford, Scott Crow, Manfred M. Fichter, David Goldman, Katherine A. Halmi, Craig Johnson, Allan S. Kaplan, Pamela K. Keel, Kelly L. Klump, Maria La Via, James E. Mitchell, Michael Strober, Alessandro Rotondo, Janet Treasure, D. Blake Woodside

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2010 Oct 25.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5): 1070–1080. doi: 10.1002/ajmg.b.31082

PMCID:: PMC2963154

Abstract Article PDF–315K

Select item 295884415.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Audrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, Solenn Legallic, Alice Goldenberg, Valérie Drouin-Garraud, Valérie Layet, Antoine Rosier, Sylvain Briault, Frédérique Bonnet-Brilhault, Frédéric Laumonnier, Sylvie Odent, Gael Le Vacon, Géraldine Joly-Helas, Véronique David, Claude Bendavid, Jean-Michel Pinoit, Céline Henry, Caterina Impallomeni, Eva Germano, Gaetano Tortorella, Gabriella Di Rosa, Catherine Barthelemy, Christian Andres, Laurence Faivre, Thierry Frébourg, Pascale Saugier Veber, Dominique Campion

Arch Gen Psychiatry. Author manuscript; available in PMC 2010 Oct 25.

Published in final edited form as: Arch Gen Psychiatry. 2009 Sep; 66(9): 947–956. doi: 10.1001/archgenpsychiatry.2009.80

PMCID:: PMC2958844

Abstract Article

Select item 294516816.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 292192017.

Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?

Gualberto Ruaño, Paul D Thompson, John P Kane, Clive R Pullinger, Andreas Windemuth, Richard L Seip, Mohan Kocherla, Theodore R Holford, Alan HB Wu

Pharmacogenomics. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Pharmacogenomics. 2010 Jul; 11(7): 959–971. doi: 10.2217/pgs.10.58

PMCID:: PMC2921920

Abstract Article PDF–1.4M

Select item 288773718.

Altered Markers of Tonic Inhibition in the Dorsolateral Prefrontal Cortex of Subjects With Schizophrenia

Jaime G. Maldonado-Avilés, Allison A. Curley, Takanori Hashimoto, A. Leslie Morrow, Amy J. Ramsey, Patricio O’Donnell, David W. Volk, David A. Lewis

Am J Psychiatry. Author manuscript; available in PMC 2010 Jun 18.

Published in final edited form as: Am J Psychiatry. 2009 Apr; 166(4): 450–459. Published online 2009 Mar 16. doi: 10.1176/appi.ajp.2008.08101484

PMCID:: PMC2887737

Abstract Article PDF–2.5M

Select item 277786619.

Genetical genomic determinants of alcohol consumption in rats and humans

Boris Tabakoff, Laura Saba, Morton Printz, Pam Flodman, Colin Hodgkinson, David Goldman, George Koob, Heather N Richardson, Katerina Kechris, Richard L Bell, Norbert Hübner, Matthias Heinig, Michal Pravenec, Jonathan Mangion, Lucie Legault, Maurice Dongier, Katherine M Conigrave, John B Whitfield, John Saunders, Bridget Grant, Paula L Hoffman, WHO/ISBRA Study on State and Trait Markers of Alcoholism

BMC Biol. 2009; 7: 70. Published online 2009 Oct 27. doi: 10.1186/1741-7007-7-70

PMCID:: PMC2777866

Abstract Article PDF–1.0M

Select item 277583220.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

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