PMC Links for OMIM (Select 138248) - PMC

Select item 93007601.

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

Am J Hum Genet. 2022 Jul 7; 109(7): 1217–1241. Published online 2022 Jun 7. doi: 10.1016/j.ajhg.2022.05.009

PMCID:: PMC9300760

Abstract Article PDF–4.0M

Select item 67018622.

Architecture and subunit arrangement of native AMPA receptors elucidated by cryo-EM

Yan Zhao, Shanshuang Chen, Adam C. Swensen, Wei-Jun Qian, Eric Gouaux

Science. Author manuscript; available in PMC 2019 Oct 26.

Published in final edited form as: Science. 2019 Apr 26; 364(6438): 355–362. Published online 2019 Apr 11. doi: 10.1126/science.aaw8250

PMCID:: PMC6701862

Abstract Article PDF–2.6M

Select item 65137563.

Architecture of the heteromeric GluA1/2 AMPA receptor in complex with the auxiliary subunit TARP γ8

Beatriz Herguedas, Jake F. Watson, Hinze Ho, Ondrej Cais, Javier García-Nafría, Ingo H. Greger

Science. Author manuscript; available in PMC 2019 Oct 26.

Published in final edited form as: Science. 2019 Apr 26; 364(6438): eaav9011. Published online 2019 Mar 14. doi: 10.1126/science.aav9011

PMCID:: PMC6513756

Abstract Article PDF–3.2M

Select item 55399154.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdenek Sedlacek, Gijs W.E. Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael A. Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

Nat Neurosci. Author manuscript; available in PMC 2017 Dec 19.

Published in final edited form as: Nat Neurosci. 2017 Aug; 20(8): 1043–1051. Published online 2017 Jun 19. doi: 10.1038/nn.4589

PMCID:: PMC5539915

Abstract Article PDF–1.5M

Select item 44027235.

Synaptic, transcriptional, and chromatin genes disrupted in autism

Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin Samocha, A Ercument Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker, Tarjinder Singh, Lambertus Klei, Jack Kosmicki, Shih-Chen Fu, Branko Aleksic, Monica Biscaldi, Patrick F. Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas J. Campbell, Angel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah R. Curran, Geraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita-Laza, Patricia Jimenez Gonzalez, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao-Feng Lin, Avi Ma'ayan, Christian R. Marshall, Alison L. McInnes, Benjamin Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy R. Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Sachse, Stephan J. Sanders, Chad Schafer, Martin Schulte-Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li-San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K.C. Yuen, the DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, the Autism Sequencing Consortium, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum

Nature. Author manuscript; available in PMC 2015 May 13.

Published in final edited form as: Nature. 2014 Nov 13; 515(7526): 209–215. Published online 2014 Oct 29. doi: 10.1038/nature13772

PMCID:: PMC4402723

Abstract Article PDF–3.3M

Select item 39988436.

LTP requires a reserve pool of glutamate receptors independent of subunit type

Adam J. Granger, Yun Shi, Wei Lu, Manuel Cerpas, Roger A. Nicoll

Nature. Author manuscript; available in PMC 2014 Apr 24.

Published in final edited form as: Nature. 2013 Jan 24; 493(7433): 495–500. Published online 2012 Dec 12. doi: 10.1038/nature11775

PMCID:: PMC3998843

Abstract Article PDF–1.1M

Select item 39315527.

Strength in numbers

MORGAN SHENG, ROBERTO MALINOW, RICHARD HUGANIR

Nature. Author manuscript; available in PMC 2014 Feb 21.

Published in final edited form as: Nature. 2013 Jan 24; 493(7433): 482–483. doi: 10.1038/493482a

PMCID:: PMC3931552

Abstract Article PDF–365K

Select item 33830858.

Astrocyte glypicans 4 and 6 promote formation of excitatory synapses via GluA1 AMPA receptors

Nicola J. Allen, Mariko L. Bennett, Lynette C. Foo, Gordon X. Wang, Chandrani Chakraborty, Stephen J. Smith, Ben A. Barres

Nature. Author manuscript; available in PMC 2012 Dec 21.

Published in final edited form as: Nature. 2012 Jun 21; 486(7403): 410–414. Published online 2012 May 27. doi: 10.1038/nature11059

PMCID:: PMC3383085

Abstract Article PDF–762K

Select item 30013949.

Calcium-Permeable AMPA Receptor Dynamics Mediate Fear Memory Erasure

Roger L. Clem, Richard L. Huganir

Science. Author manuscript; available in PMC 2011 May 19.

Published in final edited form as: Science. 2010 Nov 19; 330(6007): 1108–1112. Published online 2010 Oct 28. doi: 10.1126/science.1195298

PMCID:: PMC3001394

Abstract Article PDF–2.9M

Select item 269296710.

Spine-type Specific Recruitment of Newly Synthesized AMPA Receptors with Learning

Naoki Matsuo, Mark Mayford

Science. Author manuscript; available in PMC 2009 Jun 8.

Published in final edited form as: Science. 2008 Feb 22; 319(5866): 1104–1107. doi: 10.1126/science.1149967

PMCID:: PMC2692967

Abstract Article PDF–2.7M

Select item 5234011.

Molecular cloning and chromosomal localization of one of the human glutamate receptor genes.

C Puckett, C M Gomez, J R Korenberg, H Tung, T J Meier, X N Chen, L Hood

Proc Natl Acad Sci U S A. 1991 Sep 1; 88(17): 7557–7561. doi: 10.1073/pnas.88.17.7557

PMCID:: PMC52340

Summary Page Browse PDF–1.1M

Select item 4846712.

Molecular cloning, chromosomal mapping, and functional expression of human brain glutamate receptors.

W Sun, A V Ferrer-Montiel, A F Schinder, J P McPherson, G A Evans, M Montal

Proc Natl Acad Sci U S A. 1992 Feb 15; 89(4): 1443–1447. doi: 10.1073/pnas.89.4.1443

PMCID:: PMC48467

Summary Page Browse PDF–1.1M

Select item 4623513.

Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans.

P Gregor, R H Reeves, E W Jabs, X Yang, W Dackowski, J M Rochelle, R H Brown, Jr, J L Haines, B F O'Hara, G R Uhl, et al.

Proc Natl Acad Sci U S A. 1993 Apr 1; 90(7): 3053–3057. doi: 10.1073/pnas.90.7.3053

PMCID:: PMC46235

Summary Page Browse PDF–1.2M

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