Publications:

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: GRIN2A: Glu714Lys

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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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: E714K

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: E714K

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: E714K

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: 2140G>A

PubMed Link: 33240831

Variant Present in the following documents:

• Main text
• fped-08-574803.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: GRIN2A: E714K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: GRIN2A: 2140G>A; E714K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics

Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F

Publication Date: 2018-07-06

Variant appearance in text: GRIN2A: 2140G>A

PubMed Link: 29976148

Variant Present in the following documents:

• Main text
• 12863_2018_Article_628.pdf

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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: 2140G>A

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: 2140G>A; Glu714Lys

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: E714K

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: 2140G>A

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: 2140G>A

PubMed Link: 27839871

Variant Present in the following documents:

• Main text

View BVdb publication page

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