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Items: 1 to 20 of 27

1.
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
2.
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
3.
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
4.
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
5.
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
6.
Further evidence for an association between the GABAA genes on chromosome 4 and FTND-based nicotine dependence
Arpana Agrawal, Michele L. Pergadia, Sumitra Balasubramanian, Scott F. Saccone, Anthony L. Hinrichs, Nancy L. Saccone, Naomi Breslau, Eric O. Johnson, Dorothy Hatsukami, Nicholas G. Martin, Grant W. Montgomery, Alison M. Goate, John P. Rice, Laura J. Bierut, Pamela A.F. Madden
Addiction. Author manuscript; available in PMC 2010 Mar 1.
Published in final edited form as: Addiction. 2009 Mar; 104(3): 471–477. doi: 10.1111/j.1360-0443.2008.02445.x
PMCID:
PMC2653081
AbstractArticlePDF–44K
7.
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
8.
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
9.
Enhanced macroscopic desensitization shapes the response of α4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA
Andre H Lagrange, Emmanuel J Botzolakis, Robert L Macdonald
J Physiol. 2007 Feb 1; 578(Pt 3): 655–676. Published online 2006 Nov 23. doi: 10.1113/jphysiol.2006.122135
PMCID:
PMC2151343
AbstractArticlePDF–691K
10.
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs
Scott F. Saccone, Anthony L. Hinrichs, Nancy L. Saccone, Gary A. Chase, Karel Konvicka, Pamela A.F. Madden, Naomi Breslau, Eric O. Johnson, Dorothy Hatsukami, Ovide Pomerleau, Gary E. Swan, Alison M. Goate, Joni Rutter, Sarah Bertelsen, Louis Fox, Douglas Fugman, Nicholas G. Martin, Grant W. Montgomery, Jen C. Wang, Dennis G. Ballinger, John P. Rice, Laura Jean Bierut
Hum Mol Genet. Author manuscript; available in PMC 2008 Mar 20.
Published in final edited form as: Hum Mol Genet. 2007 Jan 1; 16(1): 36–49. Published online 2006 Nov 29. doi: 10.1093/hmg/ddl438
PMCID:
PMC2270437
AbstractArticlePDF–2.8M
11.
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
Ann L. Collins, Deqiong Ma, Patrice L. Whitehead, Eden R. Martin, Harry H. Wright, Ruth K. Abramson, John P. Hussman, Jonathan L. Haines, Michael L. Cuccaro, John R. Gilbert, Margaret A. Pericak-Vance
Neurogenetics. 2006 Jul; 7(3): 167–174. Published online 2006 Jun 13. doi: 10.1007/s10048-006-0045-1
PMCID:
PMC1513515
AbstractArticlePDF–158K
12.
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
13.
Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism
D. Q. Ma, P. L. Whitehead, M. M. Menold, E. R. Martin, A. E. Ashley-Koch, H. Mei, M. D. Ritchie, G. R. DeLong, R. K. Abramson, H. H. Wright, M. L. Cuccaro, J. P. Hussman, J. R. Gilbert, M. A. Pericak-Vance
Am J Hum Genet. 2005 Sep; 77(3): 377–388. Published online 2005 Jul 15. doi: 10.1086/433195
PMCID:
PMC1226204
AbstractArticlePDF–127K
14.
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
15.
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
16.
Sequential Use of Transcriptional Profiling, Expression Quantitative Trait Mapping, and Gene Association Implicates MMP20 in Human Kidney Aging
Heather E. Wheeler, E. Jeffrey Metter, Toshiko Tanaka, Devin Absher, John Higgins, Jacob M. Zahn, Julie Wilhelmy, Ronald W. Davis, Andrew Singleton, Richard M. Myers, Luigi Ferrucci, Stuart K. Kim
PLoS Genet. 2009 Oct; 5(10): e1000685. Published online 2009 Oct 16. doi: 10.1371/journal.pgen.1000685
PMCID:
PMC2752811
AbstractArticlePDF–409K
17.
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
18.
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
19.
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
20.
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

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