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Items: 1 to 20 of 28

1.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A. Sajan, Ralph Gradisch, Florian D. Vogel, Alison J. Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E. Bianconi, Annina H. Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik S. Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
Eur J Hum Genet. 2024 Aug; 32(8): 912–919. Published online 2024 Apr 2. doi: 10.1038/s41431-024-01600-3
PMCID:
PMC11291759
AbstractArticlePDF–1.2M
2.
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
AbstractArticlePDF–875K
3.
Differential assembly diversifies GABAA 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
AbstractArticlePDF–5.7M
4.
Steady-state activation of the high-affinity isoform of the α4β2δ GABAA 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
AbstractArticlePDF–1.2M
5.
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
AbstractArticlePDF–2.4M
6.
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
AbstractArticlePDF–503K
7.
Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABAA 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
AbstractArticlePDF–1.0M
8.
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
AbstractArticlePDF–1.9M
9.
Strong genetic evidence for a selective influence of GABAA 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
AbstractArticlePDF–103K
10.
Tonic Inhibition of Accumbal Spiny Neurons by Extrasynaptic α4βδ GABAA 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
AbstractArticlePDF–7.5M
11.
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
AbstractArticlePDF–303K
12.
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
AbstractArticlePDF–2.0M
13.
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
AbstractArticlePDF–5.7M
14.
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
AbstractArticlePDF–1.0M
15.
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
AbstractArticlePDF–315K
16.
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
AbstractArticle
17.
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
AbstractArticlePDF–153K
18.
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
AbstractArticlePDF–1.4M
19.
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
AbstractArticlePDF–2.5M
20.
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
AbstractArticlePDF–1.0M

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