Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: GRIN2A: 2113A>G; Met705Val

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: GluN2A: M705V

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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Protein quality control of N-methyl-D-aspartate receptors.

Frontiers In Cellular Neuroscience

Benske, Taylor M TM; Mu, Ting-Wei TW; Wang, Ya-Juan YJ

Publication Date: 2022

Variant appearance in text: GluN2A: M705V

PubMed Link: 35936491

Variant Present in the following documents:

• Main text
• fncel-16-907560.pdf

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2A: M705V

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.

Frontiers In Neuroscience

Horak, Martin M; Barackova, Petra P; Langore, Emily E; Netolicky, Jakub J; Rivas-Ramirez, Paula P; Rehakova, Kristyna K

Publication Date: 2021

Variant appearance in text: GluN2A: M705V

PubMed Link: 33796003

Variant Present in the following documents:

• Main text
• fnins-15-603715.pdf

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Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers In Pediatrics

Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L

Publication Date: 2020

Variant appearance in text: GluN2A: 2113A>G

PubMed Link: 33240831

Variant Present in the following documents:

• Main text
• fped-08-574803.pdf

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Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.

Neuropharmacology

Tang, Weiting W; Liu, Ding D; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2020-10-15

Variant appearance in text: GRIN2A: 2113A>G

PubMed Link: 32712275

Variant Present in the following documents:

• Main text

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN2A: 2113A>G

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: GRIN2A: 2113A>G; Met705Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN2A: M705V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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

Scientific Reports

Addis, L L; Virdee, J K JK; Vidler, L R LR; Collier, D A DA; Pal, D K DK; Ursu, D D

Publication Date: 2017-02-27

Variant appearance in text: GluN2A: 2113A>G

PubMed Link: 28242877

Variant Present in the following documents:

• Main text
• 41598_2017_Article_115.pdf

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Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

American Journal Of Human Genetics

Swanger, Sharon A SA; Chen, Wenjuan W; Wells, Gordon G; Burger, Pieter B PB; Tankovic, Anel A; Bhattacharya, Subhrajit S; Strong, Katie L KL; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jing J; Adams, David R DR; Millichap, John J JJ; Petrovski, Slavé S; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2016-12-01

Variant appearance in text: GluN2A: 2113A>G

PubMed Link: 27839871

Variant Present in the following documents:

• Main text

View BVdb publication page

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