PMC Links for OMIM (Select 138253) - PMC

Select item 55688031.

Cryo-EM structures of the triheteromeric NMDA receptor and its allosteric modulation

Wei Lü, Juan Du, April Goehring, Eric Gouaux

Science. Author manuscript; available in PMC 2017 Sep 24.

Published in final edited form as: Science. 2017 Mar 24; 355(6331): eaal3729. Published online 2017 Feb 23. doi: 10.1126/science.aal3729

PMCID:: PMC5568803

Abstract Article PDF–1.0M

Select item 51421202.

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

Abstract Article PDF–4.0M

Select item 38689523.

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

Article PDF–645K

Select item 31612504.

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