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Select item 109730911.

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

Yuchen Xu, Rui Song, Riley E. Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L. Park, James P. Allen, Kelsey A. Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D. McDaniels, Rehan Sheikh, Ruth K. Mizu, Manish M. Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer Sullivan, Vandana Shashi, Slave Petrovski, Robin-Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R. Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F. Boerkoel, Scott J. Myers, Johannes R. Lemke, Timothy A. Benke, Hongjie Yuan, Stephen F. Traynelis

Cell Mol Life Sci. 2024 Dec; 81(1): 153. Published online 2024 Mar 28. doi: 10.1007/s00018-023-05069-z

PMCID:: PMC10973091

Abstract Article PDF–8.6M

Select item 109525972.

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

Lotten Ragnarsson, Zihan Zhang, Sooraj S. Das, Poanna Tran, Åsa Andersson, Vincent des Portes, Cecilia Desmettre Altuzarra, Ganaelle Remerand, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Gaetan Lesca, Victor Anggono, Irina Vetter, Angelo Keramidas

Epilepsia. 2023 Dec; 64(12): 3377–3388. Published online 2023 Oct 17. doi: 10.1111/epi.17776

PMCID:: PMC10952597

Abstract Article PDF–6.1M

Select item 106421593.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson

J Med Genet. Author manuscript; available in PMC 2023 Nov 13.

Published in final edited form as: J Med Genet. 2023 Feb; 60(2): 183–192. Published online 2022 Apr 7. doi: 10.1136/jmedgenet-2021-107971

PMCID:: PMC10642159

Abstract Article PDF–1.1M

Select item 106417594.

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

Lingling Xie, Miranda J. McDaniel, Riley E. Perszyk, Sukhan Kim, Gerarda Cappuccio, Kevin A. Shapiro, Beatriz Muñoz-Cabello, Pedro A. Sanchez-Lara, Katheryn Grand, Jing Zhang, Kelsey A. Nocilla, Rehan Sheikh, Lluis Armengol, Roberta Romano, Tyler Mark Pierson, Hongjie Yuan, Scott J. Myers, Stephen F. Traynelis

Cell Mol Life Sci. 2023 Apr; 80(4): 110. Published online 2023 Mar 31. doi: 10.1007/s00018-023-04705-y

PMCID:: PMC10641759

Abstract Article PDF–5.3M

Select item 104881965.

Pluripotential GluN1 (NMDA NR1): Functional Significance in Cellular Nuclei in Pain/Nociception

Terry A. McNearney, Karin N. Westlund

Int J Mol Sci. 2023 Sep; 24(17): 13196. Published online 2023 Aug 25. doi: 10.3390/ijms241713196

PMCID:: PMC10488196

Abstract Article PDF–4.6M

Select item 104723286.

NMDA receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.

Jacob G Charron, Angel Hernandez, Stephanie M Bilinovich, Daniel L Vogt, Laura A Bedinger, Laurie H Seaver, Michael Williams, Seth Devries, Daniel B Campbell, Caleb P Bupp, Jeremy W Prokop

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 556–568. Published online 2021 Nov 2. doi: 10.1002/ajmg.a.62554

PMCID:: PMC10472328

Abstract Article PDF–2.0M

Select item 97452097.

NMDA receptor modulation and severe acute respiratory syndrome treatment

Blaise M. Costa

Version 1. F1000Res. 2021; 10: Chem Inf Sci-1060. Published online 2021 Oct 18. doi: 10.12688/f1000research.73897.1

PMCID:: PMC9745209

Abstract Article PDF–256K

Select item 97226278.

Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs

Tsung-Han Chou, Hyunook Kang, Noriko Simorowski, Stephen F. Traynelis, Hiro Furukawa

Mol Cell. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Mol Cell. 2022 Dec 1; 82(23): 4548–4563.e4. Published online 2022 Oct 28. doi: 10.1016/j.molcel.2022.10.008

PMCID:: PMC9722627

Abstract Article PDF–3.3M

Select item 86576019.

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Juan J. García-Peñas, Patricia Fuentes, Salvador Ibáñez-Micó, Laura Cuesta, Ramón Cancho, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Olga Alonso-Luengo, Ignacio Málaga, Antonio Hedrera-Fernández, Àngels García-Cazorla, David Soto, Mireia Olivella, Xavier Altafaj

Int J Mol Sci. 2021 Dec; 22(23): 12656. Published online 2021 Nov 23. doi: 10.3390/ijms222312656

PMCID:: PMC8657601

Abstract Article PDF–4.6M

Select item 862618310.

Identification of Hub Gene GRIN1 Correlated with Histological Grade and Prognosis of Glioma by Weighted Gene Coexpression Network Analysis

Aoran Yang, Xinhuan Wang, Yaofeng Hu, Chao Shang, Yang Hong

Biomed Res Int. 2021; 2021: 4542995. Published online 2021 Nov 19. doi: 10.1155/2021/4542995

PMCID:: PMC8626183

Abstract Article PDF–3.5M

Select item 828316911.

Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy

Yuchen Xu, Rui Song, Wenjuan Chen, Katie Strong, Daniel Shrey, Satyanarayana Gedela, Stephen F. Traynelis, Guojun Zhang, Hongjie Yuan

Ann Clin Transl Neurol. 2021 Jul; 8(7): 1480–1494. Published online 2021 Jul 6. doi: 10.1002/acn3.51406

PMCID:: PMC8283169

Abstract Article PDF–5.1M

Select item 825754712.

Splicing and editing of ionotropic glutamate receptors: a comprehensive analysis based on human RNA-Seq data

Robin Herbrechter, Nadine Hube, Raoul Buchholz, Andreas Reiner

Cell Mol Life Sci. 2021 Jul; 78(14): 5605–5630. Published online 2021 Jun 8. doi: 10.1007/s00018-021-03865-z

PMCID:: PMC8257547

Abstract Article PDF–2.4M

Select item 816503013.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 786251614.

Exploratory study of selected nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding subunits of the NMDA receptor in a targeted group of schizophrenia patients with chronic cognitive impairment

Marek Krzystanek, Marek Asman, Joanna Witecka, Artur Pałasz, Ryszard Wiaderkiewicz

Pharmacol Rep. 2021; 73(1): 269–277. Published online 2020 Nov 25. doi: 10.1007/s43440-020-00192-1

PMCID:: PMC7862516

Abstract Article PDF–2.0M

Select item 786250315.

Selected single-nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the NMDA receptor are not biomarkers of schizophrenia resistant to clozapine: exploratory study

Marek Krzystanek, Marek Asman, Joanna Witecka, Artur Pałasz, Ryszard Wiaderkiewicz

Pharmacol Rep. 2021; 73(1): 309–315. Published online 2020 Oct 6. doi: 10.1007/s43440-020-00165-4

PMCID:: PMC7862503

Abstract Article PDF–678K

Select item 768300916.

Changes in cortical N-methyl-d-aspartate receptors and post-synaptic density protein 95 in schizophrenia, mood disorders and suicide

Brian Dean, Andrew S Gibbons, Simone Boer, Akihito Uezato, James Meador-Woodruff, Elizabeth Scarr, Robert E McCullumsmith

Aust N Z J Psychiatry. Author manuscript; available in PMC 2020 Nov 23.

Published in final edited form as: Aust N Z J Psychiatry. 2016 Mar; 50(3): 275–283. Published online 2015 May 26. doi: 10.1177/0004867415586601

PMCID:: PMC7683009

Abstract Article PDF–611K

Select item 759608517.

The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors

Kristyna Skrenkova, Jae-man Song, Stepan Kortus, Marharyta Kolcheva, Jakub Netolicky, Katarina Hemelikova, Martina Kaniakova, Barbora Hrcka Krausova, Tomas Kucera, Jan Korabecny, Young Ho Suh, Martin Horak

Sci Rep. 2020; 10: 18576. Published online 2020 Oct 29. doi: 10.1038/s41598-020-75646-w

PMCID:: PMC7596085

Abstract Article PDF–2.6M

Select item 758230118.

Advances in D-Amino Acids in Neurological Research

James M. Seckler, Stephen J. Lewis

Int J Mol Sci. 2020 Oct; 21(19): 7325. Published online 2020 Oct 3. doi: 10.3390/ijms21197325

PMCID:: PMC7582301

Abstract Article PDF–580K

Select item 750080519.

mGluR5 hypofunction is integral to glutamatergic dysregulation in schizophrenia

Hoau-Yan Wang, Mathew L. MacDonald, Karin E. Borgmann-Winter, Anamika Banerjee, Patrick Sleiman, Andrew Tom, Amber Khan, Kuo-Chieh Lee, Panos Roussos, Steven J. Siegel, Scott E Hemby, Warren B. Bilker, Raquel E. Gur, Chang-Gyu Hahn

Mol Psychiatry. Author manuscript; available in PMC 2020 Sep 18.

Published in final edited form as: Mol Psychiatry. 2020 Apr; 25(4): 750–760. Published online 2018 Sep 13. doi: 10.1038/s41380-018-0234-y

PMCID:: PMC7500805

Abstract Article PDF–1.2M

Select item 728612820.

N -Methyl-D-Aspartate Receptor Hypofunction in Meg-01 Cells Reveals a Role for Intracellular Calcium Homeostasis in Balancing Megakaryocytic-Erythroid Differentiation

James I. Hearn, Taryn N. Green, Martin Chopra, Yohanes N. S. Nursalim, Leandro Ladvanszky, Nicholas Knowlton, Cherie Blenkiron, Raewyn C. Poulsen, Dean C. Singleton, Stefan K. Bohlander, Maggie L. Kalev-Zylinska

Thromb Haemost. 2020 Apr; 120(4): 671–686. Published online 2020 Apr 14. doi: 10.1055/s-0040-1708483

PMCID:: PMC7286128

Abstract Article PDF–938K

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PMC Links for GEO Profiles (Select 39265462) (115)
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Valproic acid effect on theca cells (HG-U133B)
Valproic acid effect on theca cells (HG-U133B)
Accession: GDS1051

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Related DataSets for GEO Profiles (Select 9525577) (1)
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RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetanide-sensit...
RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; Short=BSC1; AltName: Full=Kidney-specific Na-K-Cl symporter; AltName: Full=Na-K-2Cl cotransporter 2; Short=NKCC2
gi|212276464|sp|Q13621.2|S12A1_HUMA

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Congenital afibrinogenemia
Congenital afibrinogenemia

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