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Items: 1 to 20 of 27

1.
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy
Wenjuan Chen, Anel Tankovic, Pieter B. Burger, Hirofumi Kusumoto, Stephen F. Traynelis, Hongjie Yuan
Mol Pharmacol. 2017 Apr; 91(4): 317–330. Published online 2017 Apr. doi: 10.1124/mol.116.106781
PMCID:
PMC5363715
AbstractArticlePDF–2.2M
2.
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H. Shaulsky, Chun Hu, Stephen F. Traynelis, Hongjie Yuan, Yuwu Jiang
PLoS One. 2017; 12(2): e0170818. Published online 2017 Feb 9. doi: 10.1371/journal.pone.0170818
PMCID:
PMC5300259
AbstractArticlePDF–5.0M
3.
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology
Kevin K. Ogden, Wenjuan Chen, Sharon A. Swanger, Miranda J. McDaniel, Linlin Z. Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J. Kosobucki, Anthony J. Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E. Cohen, Elias Aizenman, Stephen F. Traynelis, Hongjie Yuan
PLoS Genet. 2017 Jan; 13(1): e1006536. Published online 2017 Jan 17. doi: 10.1371/journal.pgen.1006536
PMCID:
PMC5240934
AbstractArticlePDF–8.8M
4.
GluN2A-Selective Pyridopyrimidinone Series of NMDAR Positive Allosteric Modulators with an Improved in Vivo Profile
Elisia Villemure, Matthew Volgraf, Yu Jiang, Guosheng Wu, Cuong Q. Ly, Po-wai Yuen, Aijun Lu, Xifeng Luo, Mingcui Liu, Shun Zhang, Patrick J. Lupardus, Heidi J. A. Wallweber, Bianca M. Liederer, Gauri Deshmukh, Emile Plise, Suzanne Tay, Tzu-Ming Wang, Jesse E. Hanson, David H. Hackos, Kimberly Scearce-Levie, Jacob B. Schwarz, Benjamin D. Sellers
ACS Med Chem Lett. 2017 Jan 12; 8(1): 84–89. Published online 2016 Oct 31. doi: 10.1021/acsmedchemlett.6b00388
PMCID:
PMC5238474
AbstractArticlePDF–1.2M
5.
Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms
Alissa Maria D’Gama, Sirisha Pochareddy, Mingfeng Li, Saumya Shekhar Jamuar, Rachel Elizabeth Reiff, Anh-Thu Ngoc Lam, Nenad Sestan, Christopher A Walsh
Neuron. Author manuscript; available in PMC 2016 Dec 2.
Published in final edited form as: Neuron. 2015 Dec 2; 88(5): 910–917. doi: 10.1016/j.neuron.2015.11.009
PMCID:
PMC4672379
AbstractArticlePDF–535K
6.
Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha M. Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis
Nat Commun. Author manuscript; available in PMC 2014 Aug 7.
Published in final edited form as: Nat Commun. 2014; 5: 3251. doi: 10.1038/ncomms4251
PMCID:
PMC3934797
AbstractArticlePDF–1.5M
7.
Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival
Stacey Ann N. D’mello, Jack U. Flanagan, Taryn N. Green, Euphemia Y. Leung, Marjan E. Askarian-Amiri, Wayne R. Joseph, Michael R. McCrystal, Richard J. Isaacs, James H. F. Shaw, Christopher E. Furneaux, Matthew J. During, Graeme J. Finlay, Bruce C. Baguley, Maggie L. Kalev-Zylinska
Front Oncol. 2013; 3: 333. Published online 2014 Jan 13. doi: 10.3389/fonc.2013.00333
PMCID:
PMC3888952
AbstractArticlePDF–1.4M
8.
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, Ingrid E Scheffer, Heather C Mefford
Nat Genet. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 1073–1076. Published online 2013 Aug 11. doi: 10.1038/ng.2727
PMCID:
PMC3868952
ArticlePDF–645K
9.
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
J Tarabeux, O Kebir, J Gauthier, F F Hamdan, L Xiong, A Piton, D Spiegelman, É Henrion, B Millet, S2D team, F Fathalli, R Joober, J L Rapoport, L E DeLisi, É Fombonne, L Mottron, N Forget-Dubois, M Boivin, J L Michaud, P Drapeau, R G Lafrenière, G A Rouleau, M-O Krebs
Transl Psychiatry. 2011 Nov; 1(11): e55. Published online 2011 Nov 15. doi: 10.1038/tp.2011.52
PMCID:
PMC3309470
AbstractArticlePDF–299K
10.
Exome sequencing identifies GRIN2A as frequently mutated in melanoma
Xiaomu Wei, Vijay Walia, Jimmy C Lin, Jamie K Teer, Todd D Prickett, Jared Gartner, Sean Davis, NISC Comparative Sequencing Program, Katherine Stemke-Hale, Michael A Davies, Jeffrey E Gershenwald, William Robinson, Steven Robinson, Steven A Rosenberg, Yardena Samuels
Nat Genet. Author manuscript; available in PMC 2011 Aug 25.
Published in final edited form as: Nat Genet. 2011 May; 43(5): 442–446. Published online 2011 Apr 15. doi: 10.1038/ng.810
PMCID:
PMC3161250
AbstractArticlePDF–903K
11.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
12.
A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain
Hannah Warming, Chrysia-Maria Pegasiou, Aleksandra P. Pitera, Hanna Kariis, Steven D. Houghton, Ksenia Kurbatskaya, Aminul Ahmed, Paul Grundy, Girish Vajramani, Diederik Bulters, Xavier Altafaj, Katrin Deinhardt, Mariana Vargas-Caballero
Mol Brain. 2019; 12: 64. Published online 2019 Jul 4. doi: 10.1186/s13041-019-0485-9
PMCID:
PMC6610962
AbstractArticlePDF–1.6M
13.
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability
Johansen B. Amin, Xiaoling Leng, Aaron Gochman, Huan-Xiang Zhou, Lonnie P. Wollmuth
Nat Commun. 2018; 9: 3748. Published online 2018 Sep 14. doi: 10.1038/s41467-018-06145-w
PMCID:
PMC6138751
AbstractArticlePDF–1.8M
14.
Protein lipidation: Occurrence, mechanisms, biological functions, and enabling technologies
Hong Jiang, Xiaoyu Zhang, Xiao Chen, Pornpun Aramsangtienchai, Zhen Tong, Hening Lin
Chem Rev. Author manuscript; available in PMC 2019 Feb 14.
Published in final edited form as: Chem Rev. 2018 Feb 14; 118(3): 919–988. Published online 2018 Jan 2. doi: 10.1021/acs.chemrev.6b00750
PMCID:
PMC5985209
AbstractArticlePDF–5.5M
15.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Brain. 2018 Mar; 141(3): 698–712. Published online 2018 Jan 22. doi: 10.1093/brain/awx358
PMCID:
PMC5837214
AbstractArticlePDF–698K
16.
THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Ligand‐gated ion channels
Stephen PH Alexander, John A Peters, Eamonn Kelly, Neil V Marrion, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators
Br J Pharmacol. 2017 Dec; 174(Suppl Suppl 1): S130–S159. Published online 2017 Oct 21. doi: 10.1111/bph.13879
PMCID:
PMC5650660
AbstractArticlePDF–954K
17.
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
Sharon A. Swanger, Wenjuan Chen, Gordon Wells, Pieter B. Burger, Anel Tankovic, Subhrajit Bhattacharya, Katie L. Strong, Chun Hu, Hirofumi Kusumoto, Jing Zhang, David R. Adams, John J. Millichap, Slavé Petrovski, Stephen F. Traynelis, Hongjie Yuan
Am J Hum Genet. 2016 Dec 1; 99(6): 1261–1280. Published online 2016 Nov 10. doi: 10.1016/j.ajhg.2016.10.002
PMCID:
PMC5142120
AbstractArticlePDF–4.0M
18.
Mapping autoantigen epitopes: molecular insights into autoantibody-associated disorders of the nervous system
Nese Sinmaz, Tina Nguyen, Fiona Tea, Russell C. Dale, Fabienne Brilot
J Neuroinflammation. 2016; 13(1): 219. Published online 2016 Aug 30. doi: 10.1186/s12974-016-0678-4
PMCID:
PMC5006540
AbstractArticlePDF–2.2M
19.
Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways
Scott R. Wheeler, Chanjuan Shi, Jonathan A. Holt, Cindy L. Vnencak-Jones
J Gastrointest Oncol. 2016 Jun; 7(3): E64–E71. doi: 10.21037/jgo.2016.01.07
PMCID:
PMC4880766
AbstractArticlePDF–2.2M
20.
The Concise Guide to PHARMACOLOGY 2015/16: Ligand‐gated ion channels
Stephen PH Alexander, John A Peters, Eamonn Kelly, Neil Marrion, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators
Br J Pharmacol. 2015 Dec; 172(24): 5870–5903. Published online 2015 Dec 9. doi: 10.1111/bph.13350
PMCID:
PMC4718212
AbstractArticlePDF–1.0M

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