PMC Links for Gene (Select 2903) - PMC

Links from Gene

Items: 1 to 20 of 117

<< First< Prev

Page of 6

Select item 108374271.

Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders

Nate Shepard, David Baez-Nieto, Sumaiya Iqbal, Erkin Kurganov, Nikita Budnik, Arthur J. Campbell, Jen Q. Pan, Morgan Sheng, Zohreh Farsi

Sci Rep. 2024; 14: 2798. Published online 2024 Feb 2. doi: 10.1038/s41598-024-53102-3

PMCID:: PMC10837427

Abstract Article PDF–4.3M

Select item 101380402.

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Margaret A. Hojlo, Merhawi Ghebrelul, Casie A. Genetti, Richard Smith, Shira Rockowitz, Emma Deaso, Alan H. Beggs, Pankaj B. Agrawal, David C. Glahn, Joseph Gonzalez-Heydrich, Catherine A. Brownstein

Genes (Basel) 2023 Apr; 14(4): 779. Published online 2023 Mar 23. doi: 10.3390/genes14040779

PMCID:: PMC10138040

Abstract Article PDF–279K

Select item 88856973.

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A

Marwa Elmasri, Daniel William Hunter, Giles Winchester, Ella Emine Bates, Wajeeha Aziz, Does Moolenaar Van Der Does, Eirini Karachaliou, Kenji Sakimura, Andrew. Charles Penn

Commun Biol. 2022; 5: 174. Published online 2022 Feb 28. doi: 10.1038/s42003-022-03115-3

PMCID:: PMC8885697

Abstract Article PDF–5.1M

Select item 70732204.

Synaptic GluN2A-Containing NMDA Receptors: From Physiology to Pathological Synaptic Plasticity

Luca Franchini, Nicolò Carrano, Monica Di Luca, Fabrizio Gardoni

Int J Mol Sci. 2020 Feb; 21(4): 1538. Published online 2020 Feb 24. doi: 10.3390/ijms21041538

PMCID:: PMC7073220

Abstract Article PDF–857K

Select item 66109625.

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

Abstract Article PDF–1.6M

Select item 64187626.

Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy

Katie F. M. Marwick, Kasper B. Hansen, Paul A. Skehel, Giles E. Hardingham, David J. A. Wyllie

J Physiol. 2019 Mar 15; 597(6): 1691–1704. Published online 2019 Jan 30. doi: 10.1113/JP277292

PMCID:: PMC6418762

Abstract Article PDF–1.1M

Select item 58390487.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Dheeraj R. Bobbili, Dennis Lal, Patrick May, Eva M. Reinthaler, Kamel Jabbari, Holger Thiele, Michael Nothnagel, Wiktor Jurkowski, Martha Feucht, Peter Nürnberg, Holger Lerche, Fritz Zimprich, Roland Krause, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Julia Geldner, Ursula Gruber-Sedlmayr, Edda Haberlandt, Gabriel M. Ronen, Janine Altmüller, Dennis Lal, Peter Nürnberg, Thomas Sander, Holger Thiele, Roland Krause, Patrick May, Rudi Balling, Holger Lerche, Bernd A. Neubauer, EUROEPINOMICS COGIE Consortium

Eur J Hum Genet. 2018 Feb; 26(2): 258–264. Published online 2018 Jan 22. doi: 10.1038/s41431-017-0034-x

PMCID:: PMC5839048

Abstract Article PDF–997K

Select item 54278478.

Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue

L. Addis, J. K. Virdee, L. R. Vidler, D. A. Collier, D. K. Pal, D. Ursu

Sci Rep. 2017; 7: 66. Published online 2017 Feb 27. doi: 10.1038/s41598-017-00115-w

PMCID:: PMC5427847

Abstract Article PDF–8.4M

Select item 53863989.

Caffeine, creatine, GRIN2A and Parkinson’s disease progression

David K. Simon, Cai Wu, Barbara C. Tilley, Katja Lohmann, Christine Klein, Haydeh Payami, Anne-Marie Wills, Michael J. Aminoff, Jacquelyn Bainbridge, Richard Dewey, Robert A. Hauser, Susen Schaake, Jay S. Schneider, Saloni Sharma, Carlos Singer, Caroline M. Tanner, Daniel Truong, Peng Wei, Pei Shieen Wong, Tianzhong Yang

J Neurol Sci. Author manuscript; available in PMC 2018 Apr 15.

Published in final edited form as: J Neurol Sci. 2017 Apr 15; 375: 355–359. Published online 2017 Feb 17. doi: 10.1016/j.jns.2017.02.032

PMCID:: PMC5386398

Abstract Article PDF–106K

Select item 536371510.

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

Abstract Article PDF–2.2M

Select item 530025911.

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

Abstract Article PDF–5.0M

Select item 433599112.

GRIN2A: An aptly named gene for speech dysfunction

Samantha J. Turner, Angela K. Mayes, Andrea Verhoeven, Simone A. Mandelstam, Angela T. Morgan, Ingrid E. Scheffer

Neurology. 2015 Feb 10; 84(6): 586–593. doi: 10.1212/WNL.0000000000001228

PMCID:: PMC4335991

Abstract Article PDF–312K

Select item 423897913.

Lack of Replication of the GRIN2A-by-Coffee Interaction in Parkinson Disease

Ismaïl Ahmed, Pei-Chen Lee, Christina M. Lill, Susan Searles Nielsen, Fanny Artaud, Lisa G. Gallagher, Marie-Anne Loriot, Claire Mulot, Magali Nacfer, Tian Liu, Joanna M. Biernacka, Sebastian Armasu, Kari Anderson, Federico M. Farin, Christina Funch Lassen, Johnni Hansen, Jørgen H. Olsen, Lars Bertram, Demetrius M. Maraganore, Harvey Checkoway, Beate Ritz, Alexis Elbaz

PLoS Genet. 2014 Nov; 10(11): e1004788. Published online 2014 Nov 20. doi: 10.1371/journal.pgen.1004788

PMCID:: PMC4238979

Article PDF–225K

Select item 405167814.

Caffeine Interaction with Glutamate Receptor Gene GRIN2A: Parkinson's Disease in Swedish Population

Naomi Yamada-Fowler, Mats Fredrikson, Peter Söderkvist

PLoS One. 2014; 9(6): e99294. Published online 2014 Jun 10. doi: 10.1371/journal.pone.0099294

PMCID:: PMC4051678

Abstract Article PDF–189K

Select item 386895215.

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 378138416.

A Novel Alcohol-Sensitive Position in the N-Methyl-d-Aspartate Receptor GluN2A Subunit M3 Domain Regulates Agonist Affinity and Ion Channel Gating

Hong Ren, Yulin Zhao, Man Wu, Robert W. Peoples

Mol Pharmacol. 2013 Oct; 84(4): 501–510. Published online 2013 Oct. doi: 10.1124/mol.113.085993

PMCID:: PMC3781384

Abstract Article PDF–1.3M

Select item 315805217.

Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee

Taye H. Hamza, Honglei Chen, Erin M. Hill-Burns, Shannon L. Rhodes, Jennifer Montimurro, Denise M. Kay, Albert Tenesa, Victoria I. Kusel, Patricia Sheehan, Muthukrishnan Eaaswarkhanth, Dora Yearout, Ali Samii, John W. Roberts, Pinky Agarwal, Yvette Bordelon, Yikyung Park, Liyong Wang, Jianjun Gao, Jeffery M. Vance, Kenneth S. Kendler, Silviu-Alin Bacanu, William K. Scott, Beate Ritz, John Nutt, Stewart A. Factor, Cyrus P. Zabetian, Haydeh Payami

PLoS Genet. 2011 Aug; 7(8): e1002237. Published online 2011 Aug 18. doi: 10.1371/journal.pgen.1002237

PMCID:: PMC3158052

Abstract Article PDF–545K

Select item 285632718.

N-methyl-D-aspartate receptor expression in parvalbumin-containing inhibitory neurons in the prefrontal cortex in bipolar disorder

Byron KY Bitanihirwe, Maribel P Lim, Tsung-Ung W Woo

Bipolar Disord. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Bipolar Disord. 2010 Feb; 12(1): 95–101. doi: 10.1111/j.1399-5618.2009.00785.x

PMCID:: PMC2856327

Abstract Article PDF–327K

Select item 201412219.

Mutations at F637 in the NMDA receptor NR2A subunit M3 domain influence agonist potency, ion channel gating and alcohol action

H Ren, A K Salous, J M Paul, R H Lipsky, R W Peoples

Br J Pharmacol. 2007 Jul; 151(6): 749–757. Published online 2007 May 21. doi: 10.1038/sj.bjp.0707254

PMCID:: PMC2014122

Abstract Article PDF–264K

Select item 30840320.

A rapid and simple PCR-based method for isolation of cDNAs from differentially expressed genes.

B P Sokolov, D J Prockop

Nucleic Acids Res. 1994 Sep 25; 22(19): 4009–4015. doi: 10.1093/nar/22.19.4009

PMCID:: PMC308403

Summary Page Browse PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 117

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity