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Select item 112705911.

De novo mutations disturb early brain development more frequently than common variants in schizophrenia

Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhongming Zhao

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2024 Jul 25.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2023 Apr; 192(3-4): 62–70. Published online 2023 Mar 2. doi: 10.1002/ajmg.b.32932

PMCID:: PMC11270591

Abstract Article PDF–1.0M

Select item 110681052.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda McNiven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen

Brain. 2024 May; 147(5): 1837–1855. Published online 2023 Dec 1. doi: 10.1093/brain/awad403

PMCID:: PMC11068105

Abstract Article PDF–1.9M

Select item 99909533.

Genetic and Clinical Predictors of Sexual Dysfunction in Citalopram-Treated Depressed Patients

Roy H Perlis, Gonzalo Laje, Jordan W Smoller, Maurizio Fava, A John Rush, Francis J McMahon

Neuropsychopharmacology. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Neuropsychopharmacology. 2009 Jun; 34(7): 1819–1828. Published online 2009 Mar 18. doi: 10.1038/npp.2009.4

PMCID:: PMC9990953

Abstract Article PDF–378K

Select item 91902904.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

Juliette Piard, Matthieu Béreau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Nana Liu, Yuchen Xu, Scott J. Myers, Stephen F. Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan

Mov Disord. Author manuscript; available in PMC 2022 Jun 13.

Published in final edited form as: Mov Disord. 2020 Jul; 35(7): 1224–1232. Published online 2020 May 5. doi: 10.1002/mds.28058

PMCID:: PMC9190290

Abstract Article PDF–822K

Select item 87489585.

EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation

Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing

Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6

PMCID:: PMC8748958

Abstract Article PDF–3.0M

Select item 85175676.

Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic lipid accumulation in non-alcoholic fatty liver disease via regulating miR-212-5p/GRIA3

Min-Jie Hu, Mei Long, Rong-Juan Dai

Mol Cell Biochem. 2022; 477(1): 191–203. Published online 2021 Oct 15. doi: 10.1007/s11010-021-04269-0

PMCID:: PMC8517567

Abstract Article PDF–11M

Select item 82599627.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Berardo Rinaldi, Wenhui Laura Li, Qing-Qing Li, Dan Wu, Benedicte Gerard, Erin Thorpe, Allan Bayat, Yun Stone Shi

PLoS Genet. 2021 Jun; 17(6): e1009608. Published online 2021 Jun 23. doi: 10.1371/journal.pgen.1009608

PMCID:: PMC8259962

Abstract Article PDF–3.5M

Select item 81650308.

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 71132439.

Interaction between the scaffold proteins CBP by IQGAP1 provides an interface between gene expression and cytoskeletal activity

Simone Kosol, Sara Contreras-Martos, Alessandro Piai, Mihaly Varadi, Tamas Lazar, Angela Bekesi, Pierre Lebrun, Isabella C. Felli, Roberta Pierattelli, Peter Tompa

Sci Rep. 2020; 10: 5753. Published online 2020 Apr 1. doi: 10.1038/s41598-020-62069-w

PMCID:: PMC7113243

Abstract Article PDF–4.2M

Select item 675689810.

MicroRNA-330-3p promotes brain metastasis and epithelial-mesenchymal transition via GRIA3 in non-small cell lung cancer

Chunhua Wei, Ruiguang Zhang, Qian Cai, Xican Gao, Fan Tong, Jihua Dong, Yu Hu, Gang Wu, Xiaorong Dong

Aging (Albany NY) 2019 Sep 15; 11(17): 6734–6761. Published online 2019 Sep 8. doi: 10.18632/aging.102201

PMCID:: PMC6756898

Abstract Article PDF–8.5M

Select item 667239311.

Electrophysiological Properties of AMPA Receptors Are Differentially Modulated Depending on the Associated Member of the TARP Family

Sabine Kott, Markus Werner, Christoph Körber, Michael Hollmann

J Neurosci. 2007 Apr 4; 27(14): 3780–3789. doi: 10.1523/JNEUROSCI.4185-06.2007

PMCID:: PMC6672393

Abstract Article PDF–368K

Select item 657585512.

Chromosomal localization of human glutamate receptor genes

JO McNamara, JH Eubanks, JD McPherson, JJ Wasmuth, GA Evans, SF Heinemann

J Neurosci. 1992 Jul 1; 12(7): 2555–2562. doi: 10.1523/JNEUROSCI.12-07-02555.1992

PMCID:: PMC6575855

Abstract PDF–4.6M

Select item 563946113.

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Benjamin Davies, Laurence A Brown, Ondrej Cais, Jake Watson, Amber J Clayton, Veronica T Chang, Daniel Biggs, Christopher Preece, Polinka Hernandez-Pliego, Jon Krohn, Amarjit Bhomra, Stephen R F Twigg, Andrew Rimmer, Alexander Kanapin, The WGS500 Consortium, Arjune Sen, Zenobia Zaiwalla, Gil McVean, Russell Foster, Peter Donnelly, Jenny C Taylor, Edward Blair, David Nutt, A Radu Aricescu, Ingo H Greger, Stuart N Peirson, Jonathan Flint, Hilary C Martin

Hum Mol Genet. 2017 Oct 15; 26(20): 3869–3882. Published online 2017 Jul 14. doi: 10.1093/hmg/ddx270

PMCID:: PMC5639461

Abstract Article PDF–1.0M

Select item 553227014.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target

B. Borroni, J. Stanic, C. Verpelli, M. Mellone, E. Bonomi, A. Alberici, P. Bernasconi, L. Culotta, E. Zianni, S. Archetti, M. Manes, S. Gazzina, R. Ghidoni, L. Benussi, C. Stuani, M. Di Luca, C. Sala, E. Buratti, A. Padovani, F. Gardoni

Sci Rep. 2017; 7: 6723. Published online 2017 Jul 27. doi: 10.1038/s41598-017-06117-y

Correction in:: Sci Rep. 2018; 8: 272.

PMCID:: PMC5532270

Abstract Article PDF–2.0M

Select item 553161115.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 541409116.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier, T Zemojtel, M I Love, H Richard, A-K Emde, M Bienek, C Jensen, M Hambrock, U Fischer, C Langnick, M Feldkamp, W Wissink-Lindhout, N Lebrun, L Castelnau, J Rucci, R Montjean, O Dorseuil, P Billuart, T Stuhlmann, M Shaw, M A Corbett, A Gardner, S Willis-Owen, C Tan, K L Friend, S Belet, K E P van Roozendaal, M Jimenez-Pocquet, M-P Moizard, N Ronce, R Sun, S O'Keeffe, R Chenna, A van Bömmel, J Göke, A Hackett, M Field, L Christie, J Boyle, E Haan, J Nelson, G Turner, G Baynam, G Gillessen-Kaesbach, U Müller, D Steinberger, B Budny, M Badura-Stronka, A Latos-Bieleńska, L B Ousager, P Wieacker, G Rodríguez Criado, M-L Bondeson, G Annerén, A Dufke, M Cohen, L Van Maldergem, C Vincent-Delorme, B Echenne, B Simon-Bouy, T Kleefstra, M Willemsen, J-P Fryns, K Devriendt, R Ullmann, M Vingron, K Wrogemann, T F Wienker, A Tzschach, H van Bokhoven, J Gecz, T J Jentsch, W Chen, H-H Ropers, V M Kalscheuer

Mol Psychiatry. 2016 Jan; 21(1): 133–148. Published online 2015 Feb 3. doi: 10.1038/mp.2014.193