Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Aarts, M., Liu, Y., Liu, L., Besshoh, S., Arundine, M., Gurd, J. W., Wang, Y.-T., Salter, M. W., Tymianski, M.Treatment of ischemic brain damage by perturbing NMDA receptor-PSD-95 protein interactions. Science 298: 846-850, 2002. [PubMed: 12399596] [Full Text: https://doi.org/10.1126/science.1072873\]
  2. Autry, A. E., Adachi, M., Nosyreva, E., Na, E. S., Los, M. F., Cheng, P., Kavalali, E. T., Monteggia, L. M.NMDA receptor blockade at rest triggers rapid behavioural antidepressant responses. Nature 475: 91-95, 2011. [PubMed: 21677641] [Full Text: https://doi.org/10.1038/nature10130\]
  3. Bayer, K.-U., De Koninck, P., Leonard, A. S., Hell, J. W., Schulman, H.Interaction with the NMDA receptor locks CaMKII in an active conformation. Nature 411: 801-805, 2001. [PubMed: 11459059] [Full Text: https://doi.org/10.1038/35081080\]
  4. Buonuomo, P. S., Mastrogiorgio, G., Alfieri, P., Terracciano, A., Cesario, C., Rana, I., Macchiaiolo, M., Gonfiantini, M. V., Vecchio, D., Digilio, M. C., Dentici, M. L., Cumbo, F., Novelli, A., Bartuli, A.Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype. Clin. Dysmorph. 31: 74-78, 2022. [PubMed: 35238837] [Full Text: https://doi.org/10.1097/MCD.0000000000000408\]
  5. Chen, N., Luo, T., Raymond, L. A.Subtype-dependence of NMDA receptor channel open probability. J. Neurosci. 19: 6844-6854, 1999. [PubMed: 10436042] [Full Text: https://doi.org/10.1523/JNEUROSCI.19-16-06844.1999\]
  6. de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M.Diagnostic exome sequencing in persons with severe intellectual disability. New Eng. J. Med. 367: 1921-1929, 2012. [PubMed: 23033978] [Full Text: https://doi.org/10.1056/NEJMoa1206524\]
  7. de Quervain, D. J.-F., Papassotiropoulos, A.Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. Proc. Nat. Acad. Sci. 103: 4270-4274, 2006. [PubMed: 16537520] [Full Text: https://doi.org/10.1073/pnas.0510212103\]
  8. DeGiorgio, L. A., Konstantinov, K. N., Lee, S. C., Hardin, J. A., Volpe, B. T., Diamond, B.A subset of lupus anti-DNA antibodies cross-reacts with the NR2 glutamate receptor in systemic lupus erythematosus. Nature Med. 7: 1189-1193, 2001. [PubMed: 11689882] [Full Text: https://doi.org/10.1038/nm1101-1189\]
  9. den Hollander, B., Veenvliet, A. R. J., Rothuizen-Lindenschot, M., van Essen, P., Peters, G., Santos-Gomez, A., Olivella, M., Altafaj, X., Brands, M. M., Jacobs, B. A. W., van Karnebeek, C. D.Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder. Molec. Genet. Metab. 138: 107523, 2023. [PubMed: 36758276] [Full Text: https://doi.org/10.1016/j.ymgme.2023.107523\]
  10. Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortum, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., and 16 others.Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genet. 42: 1021-1026, 2010. [PubMed: 20890276] [Full Text: https://doi.org/10.1038/ng.677\]
  11. Epi4K Consortium and Epilepsy Phenome/Genome Project.De novo mutations in epileptic encephalopathies. Nature 501: 217-221, 2013. [PubMed: 23934111] [Full Text: https://doi.org/10.1038/nature12439\]
  12. Gielen, M., Retchless, B. S., Mony, L., Johnson, J. W., Paoletti, P.Mechanism of differential control of NMDA receptor activity by NR2 subunits. Nature 459: 703-707, 2009. [PubMed: 19404260] [Full Text: https://doi.org/10.1038/nature07993\]
  13. Hardingham, G. E., Fukunaga, Y., Bading, H.Extrasynaptic NMDARs oppose synaptic NMDARs by triggering CREB shut-off and cell death pathways. Nature Neurosci. 5: 405-414, 2002. [PubMed: 11953750] [Full Text: https://doi.org/10.1038/nn835\]
  14. Hess, S. D., Daggett, L. P., Crona, J., Deal, C., Lu, C.-C., Urrutia, A., Chavez-Noriega, L., Ellis, S. B., Johnson, E. C., Velicelebi, G.Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors. J. Pharm. Exp. Ther. 278: 808-816, 1996. [PubMed: 8768735]
  15. Huerta, P. T., Kowal, C., DeGiorgio, L. A., Volpe, B. T., Diamond, B.Immunity and behavior: antibodies alter emotion. Proc. Nat. Acad. Sci. 103: 678-683, 2006. [PubMed: 16407105] [Full Text: https://doi.org/10.1073/pnas.0510055103\]
  16. Karakas, E., Simorowski, N., Furukawa, H.Subunit arrangement and phenylethanolamine binding in GluN1/GluN2B NMDA receptors. Nature 475: 249-253, 2011. [PubMed: 21677647] [Full Text: https://doi.org/10.1038/nature10180\]
  17. Kawakami, R., Shinohara, Y., Kato, Y., Sugiyama, H., Shigemoto, R., Ito, I.Asymmetrical allocation of NMDA receptor epsilon-2 subunits in hippocampal circuitry. Science 300: 990-994, 2003. [PubMed: 12738868] [Full Text: https://doi.org/10.1126/science.1082609\]
  18. Kutsuwada, T., Sakimura, K., Manabe, T., Takayama, C., Katakura, N., Kushiya, E., Natsume, R., Watanabe, M., Inoue, Y., Yagi, T., Aizawa, S., Arakawa, M., Takahashi, T., Nakamura, Y., Mori, H., Mishina, M.Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon-2 subunit mutant mice. Neuron 16: 333-344, 1996. [PubMed: 8789948] [Full Text: https://doi.org/10.1016/s0896-6273(00)80051-3\]
  19. Lemke, J. R., Hendrickx, R., Geider, K., Laube, B., Schwake, M., Harvey, R. J., James, V. M., Pepler, A., Steiner, I., Hortnagel, K., Neidhardt, J., Ruf, S., Wolff, M., Bartholdi, D., Caraballo, R., Platzer, K., Suls, A., De Jonghe, P., Biskup, S., Weckhuysen, S.GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann. Neurol. 75: 147-154, 2014. [PubMed: 24272827] [Full Text: https://doi.org/10.1002/ana.24073\]
  20. Li, N., Lee, B., Liu, R.-J., Banasr, M., Dwyer, J. M., Iwata, M., Li, X.-Y., Aghajanian, G., Duman, R. S.mTOR-dependent synapse formation underlies the rapid antidepressant effects of NMDA antagonists. Science 329: 959-964, 2010. [PubMed: 20724638] [Full Text: https://doi.org/10.1126/science.1190287\]
  21. Liu, L., Wong, T. P., Pozza, M. F., Lingenhoehl, K., Wang, Y., Sheng, M., Auberson, Y. P., Wang, Y. T.Role of NMDA receptor subtypes in governing the direction of hippocampal synaptic plasticity. Science 304: 1021-1024, 2004. [PubMed: 15143284] [Full Text: https://doi.org/10.1126/science.1096615\]
  22. Lu, W., Du, J., Goehring, A., Gouaux, E.Cryo-EM structures of the triheteromeric NMDA receptor and its allosteric modulation. Science 355: eaal3729, 2017. Note: Electronic Article. [PubMed: 28232581] [Full Text: https://doi.org/10.1126/science.aal3729\]
  23. Madarnas, A. R., Henderson, J. T., Roder, J. C.The NMDA receptor subunit 2B locus (Nmdar2b) maps to the distal end of murine chromosome 6. Mammalian Genome 5: 115-116, 1994. [PubMed: 8180471] [Full Text: https://doi.org/10.1007/BF00292339\]
  24. Mandich, P., Schito, A. M., Bellone, E., Antonacci, R., Finelli, P., Rocchi, M., Ajmar, F.Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. Genomics 22: 216-218, 1994. [PubMed: 7959773] [Full Text: https://doi.org/10.1006/geno.1994.1366\]
  25. Matta, J. A., Ashby, M. C., Sanz-Clemente, A., Roche, K. W., Isaac, J. T. R.mGluR5 and NMDA receptors drive the experience- and activity-dependent NMDA receptor NR2B to NR2A subunit switch. Neuron 70: 339-351, 2011. [PubMed: 21521618] [Full Text: https://doi.org/10.1016/j.neuron.2011.02.045\]
  26. O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., and 14 others.Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338: 1619-1622, 2012. [PubMed: 23160955] [Full Text: https://doi.org/10.1126/science.1227764\]
  27. Platzer, K., Yuan, H., Schutz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., O'Heyne, H., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., and 63 others.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54: 460-470, 2017. [PubMed: 28377535] [Full Text: https://doi.org/10.1136/jmedgenet-2016-104509\]
  28. Rusakov, D. A., Scimemi, A., Walker, M. C., Kullmann, D. M.Comment on 'Role of NMDA receptor subtypes in governing the direction of hippocampal synaptic plasticity.' Science 305: 1912 only, 2004. [PubMed: 15448254] [Full Text: https://doi.org/10.1126/science.1102399\]
  29. Setou, M., Nakagawa, T., Seog, D.-H., Hirokawa, N.Kinesin superfamily motor protein KIF17 and mLin-10 in NMDA receptor-containing vesicle transport. Science 288: 1796-1802, 2000. [PubMed: 10846156] [Full Text: https://doi.org/10.1126/science.288.5472.1796\]
  30. Sprengel, R., Suchanek, B., Amico, C., Brusa, R., Burnashev, N., Rozov, A., Hvalby, O., Jensen, V., Paulsen, O., Andersen, P., Kim, J. J., Thompson, R. F., Sun, W., Webster, L. C., Grant, S. G. N., Eilers, J., Konnerth, A., Li, J., McNamara, J. O., Seeburg, P. H.Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo. Cell 92: 279-289, 1998. [PubMed: 9458051] [Full Text: https://doi.org/10.1016/s0092-8674(00)80921-6\]
  31. Swanger, S. A., Chen, W., Wells, G., Burger, P. B., Tankovic, A., Bhattacharya, S., Strong, K. L., Hu, C., Kusumoto, H., Zhang, J., Adams, D. R., Millichap, J. J., Petrovski, S., Traynelis, S. F., Yuan, H.Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains. Am. J. Hum. Genet. 99: 1261-1280, 2016. [PubMed: 27839871] [Full Text: https://doi.org/10.1016/j.ajhg.2016.10.002\]
  32. Tang, Y.-P., Shimizu, E., Dube, G. R., Rampon, C., Kerchner, G. A., Zhuo, M., Liu, G., Tsien, J. Z.Genetic enhancement of learning and memory in mice. Nature 401: 63-69, 1999. [PubMed: 10485705] [Full Text: https://doi.org/10.1038/43432\]
  33. Thomas, K. L., Davis, S., Hunt, S. P., Laroche, S.Alterations in the expression of specific glutamate receptor subunits following hippocampal LTP in vivo. Learn. Mem. 3: 197-208, 1996. [PubMed: 10456090] [Full Text: https://doi.org/10.1101/lm.3.2-3.197\]
  34. Tu, W., Xu, X., Peng, L., Zhong, X., Zhang, W., Soundarapandian, M. M., Balel, C., Wang, M., Jia, N., Zhang, W., Lew, F., Chan, S. L., Chen, Y., Lu, Y.DAPK1 interaction with NMDA receptor NR2B subunits mediates brain damage in stroke. Cell 140: 222-234, 2010. [PubMed: 20141836] [Full Text: https://doi.org/10.1016/j.cell.2009.12.055\]
  35. Wong, T. P., Liu, L., Sheng, M., Wang, Y. T.Response to comment on 'Role of NMDA receptor subtypes in governing the direction of hippocampal synaptic plasticity.' Science 305: 1912 only, 2004.
  36. Yan, J., Bengtson, C. P., Buchthal, B., Hagenston, A. M., Bading, H.Coupling of NMDA receptors and TRPM4 guides discovery of unconventional neuroprotectants. Science 370: eaay3302, 2020. Note: Electronic Article. [PubMed: 33033186] [Full Text: https://doi.org/10.1126/science.aay3302\]