Citations for
1DEE101, GRIN1
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy. 2022 PMID:
Blakes AJM, English J, Banka S, Basu H.
Am J Med Genet A. Feb;188(2):595-599. doi: 10.1002/ajmg.a.62528. Epub 2021 Oct 6. 2022
2GRIA1, GRIK3, GRIN1, GRIN2B
The association between eating behavior and polymorphisms in GRIN2B, GRIK3, GRIA1 and GRIN1 genes in people with type 2 diabetes mellitus
Kochetova OV, Avzaletdinova DS, Korytina GF, Morugova TV, Mustafina OE.
Mol Biol Rep. Mar;47(3):2035-2046. doi: 10.1007/s11033-020-05304-x. Epub 2020 Feb 10. 2020
3FMR1, GRIN1, MOV10
NMDAR mediated translation at the synapse is regulated by MOV10 and FMRP.
Kute PM, Ramakrishna S, Neelagandan N, Chattarji S, Muddashetty RS.
Mol Brain. Jul 10;12(1):65. doi: 10.1186/s13041-019-0473-0. 2019
4DEE101, GRIN1
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Mřller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strřmme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.
Neurology. Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. 2016
5GRIN1, MRD8
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N.
Epilepsia 56(6):841-8. doi: 10.1111/epi.12987. Epub 2015 Apr 10. 2015
6GRIN1
The NMDA receptor functions independently and as an LRP1 co-receptor to promote Schwann cell survival and migration.
Mantuano E, Lam MS, Shibayama M, Campana WM, Gonias SL.
J Cell Sci 128(18):3478-88. doi: 10.1242/jcs.173765. Epub 2015 Aug 13. 2015
7GRIN1, GRIN2B
Crystal structure of a heterotetrameric NMDA receptor ion channel.
Karakas E, Furukawa H.
Science 344(6187):992-7. doi: 10.1126/science.1251915. 2014
8GRIN1
Changes of several brain receptor complexes in the cerebral cortex of patients with Alzheimer disease: probable new potential pharmaceutical targets.
Falsafi SK, Roßner S, Ghafari M, Groessl M, Morawski M, Gerner C, Lubec G.
Amino Acids 46(1):223-33. doi: 10.1007/s00726-013-1623-9. Epub 2013 Nov 29. 2014
9C3, GRIN1
Neuroprotective effects of C3 exoenzyme in excitotoxic retinopathy. 2014 PMID:
Wang Y, Wang Y, Yang Q, Guo L, Yin Y, Fan N, Zhou X, Cai SP, Kaufman PL, Liu X.
Exp Eye Res. Aug;125:128-34. doi: 10.1016/j.exer.2014.05.018. Epub 2014 Jun 11. 2014
10GRIN1, GRIN2A
Involvement of NR1, NR2A different expression in brain regions in anxiety-like behavior of prenatally stressed offspring.
Sun H, Jia N, Guan L, Su Q, Wang D, Li H, Zhu Z.
Behav Brain Res 257:1-7. doi: 10.1016/j.bbr.2013.08.044. Epub 2013 Sep 9. Review. 2013
11GRIN1
Role of motor cortex NMDA receptors in learning-dependent synaptic plasticity of behaving mice.
Hasan MT, Hernández-González S, Dogbevia G, Trevińo M, Bertocchi I, Gruart A, Delgado-García JM.
Nat Commun 4:2258. doi: 10.1038/ncomms3258. Erratum in: Nat Commun. 2013;4:2831. 2013
12GRIN1
Loss of NR1 subunit of NMDARs in primary sensory neurons leads to hyperexcitability and pain hypersensitivity: involvement of Ca(2+)-activated small conductance potassium channels.
Pagadala P, Park CK, Bang S, Xu ZZ, Xie RG, Liu T, Han BX, Tracey WD Jr, Wang F, Ji RR.
J Neurosci 33(33):13425-30. doi: 10.1523/JNEUROSCI.0454-13.2013. 2013
13GRIN1
Deletion of the NMDA-NR1 receptor subunit gene in the mouse nucleus accumbens attenuates apomorphine-induced dopamine D1 receptor trafficking and acoustic startle behavior.
Glass MJ, Robinson DC, Waters E, Pickel VM.
Synapse 67(6):265-79. doi: 10.1002/syn.21637. Epub 2013 Mar 5. 2013
14GRIN1
Molecular evidence of N-methyl-D-aspartate receptor hypofunction in schizophrenia.
Weickert CS, Fung SJ, Catts VS, Schofield PR, Allen KM, Moore LT, Newell KA, Pellen D, Huang XF, Catts SV, Weickert TW.
Mol Psychiatry 18(11):1185-92. doi: 10.1038/mp.2012.137. Epub 2012 Oct 16. 2013
15GRIN1
Expression of NMDA receptor subunit 1 in the rat retina.
Fan W, Xing Y, Zhong Y, Chen C, Shen Y.
Acta Histochem 115(1):42-7. doi: 10.1016/j.acthis.2012.03.005. Epub 2012 Apr 16. 2013
16GRIN1
Single amino acid residue in the M4 domain of GluN1 subunit regulates the surface delivery of NMDA receptors.
Kaniakova M, Lichnerova K, Vyklicky L, Horak M.
J Neurochem 123(3):385-95. doi: 10.1111/jnc.12002. Epub 2012 Sep 28. 2012
17GRIN1
GluN1 hypomorph mice exhibit wide-ranging behavioral alterations.
Barkus C, Dawson LA, Sharp T, Bannerman DM.
Genes Brain Behav 11(3):342-51. doi: 10.1111/j.1601-183X.2012.00767.x. Epub 2012 Feb 9. 2012
18GRIN1
Genetic variants of the NMDA receptor influence cortical excitability and plasticity in humans.
Mori F, Ribolsi M, Kusayanagi H, Siracusano A, Mantovani V, Marasco E, Bernardi G, Centonze D.
J Neurophysiol 106(4):1637-43. doi: 10.1152/jn.00318.2011. Epub 2011 Jul 13. 2011
19GRIN1
Dynamic regulation of NMDA receptor transmission.
Gambrill AC, Storey GP, Barria A.
J Neurophysiol 105(1):162-71. doi: 10.1152/jn.00457.2010. Epub 2010 Oct 27. 2011
20GRIN1, GRIN2D
Ligand-specific deactivation time course of GluN1/GluN2D NMDA receptors.
Vance KM, Simorowski N, Traynelis SF, Furukawa H.
Nat Commun 2:294. doi: 10.1038/ncomms1295. 2011
21GRIN1, GRIN2B, GRIN2D
NMDA receptor subunit expression in the supraoptic nucleus of adult rats: dominance of NR2B and NR2D.
Doherty FC, Sladek CD.
Brain Res 1388:89-99. doi: 10.1016/j.brainres.2011.03.015. 2011
22GRIN1, GRIN2B, KIF17, NRF1
The kinesin superfamily protein KIF17 is regulated by the same transcription factor (NRF-1) as its cargo NR2B in neurons.
Dhar SS, Wong-Riley MT.
Biochim Biophys Acta 1813(3):403-11. doi: 10.1016/j.bbamcr.2010.12.013. Epub 2010 Dec 21. 2011
23GRIN1
A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.
Ding YX, Zhang Y, He B, Yue WH, Zhang D, Zou LP.
Dev Med Child Neurol ev Med Child Neurol. 2010 Aug 16. [Epub ahead of print]PMID: 20722663 2010
24GRIN1, GRIN2A
Activation of N-methyl-D-aspartate (NMDA) receptors in the dorsal vagal complex lowers glucose production.
Lam CK, Chari M, Su BB, Cheung GW, Kokorovic A, Yang CS, Wang PY, Lai TY, Lam TK.
J Biol Chem 285(29):21913-21. Epub 2010 May 6.PMID: 20448042 2010
25GRIN1
Phenotypic characterization of a new Grin1 mutant mouse generated by ENU mutagenesis.
Furuse T, Wada Y, Hattori K, Yamada I, Kushida T, Shibukawa Y, Masuya H, Kaneda H, Miura I, Seno N, Kanda T, Hirose R, Toki S, Nakanishi K, Kobayashi K, Sezutsu H, Gondo Y, Noda T, Yuasa S, Wakana S.
Eur J Neurosci 31(7):1281-91. Epub 2010 Mar 19.PMID: 20345915 2010
26GRIN1, PRKCG
Involvement of the spinal NMDA receptor/PKCγ signaling pathway in the development of bone cancer pain.
Xiaoping G, Xiaofang Z, Yaguo Z, Juan Z, Junhua W, Zhengliang M.
Brain Res 1335:83-90. doi: 10.1016/j.brainres.2010.03.083. Epub 2010 Apr 1. 2010
27GRIN1, RALA, RALBP1
Regulated RalBP1 binding to RalA and PSD-95 controls AMPA receptor endocytosis and LTD.
Han K, Kim MH, Seeburg D, Seo J, Verpelli C, Han S, Chung HS, Ko J, Lee HW, Kim K, Heo WD, Meyer T, Kim H, Sala C, Choi SY, Sheng M, Kim E.
PLoS Biol 7(9):e1000187. Epub 2009 Sep 8.PMID: 19823667 2009
28GRIN1
Activity-dependent anchoring of importin alpha at the synapse involves regulated binding to the cytoplasmic tail of the NR1-1a subunit of the NMDA receptor.
Jeffrey RA, Ch'ng TH, O'Dell TJ, Martin KC.
J Neurosci 29(50):15613-20.PMID: 20016075 2009
29GRIN1
GRIN1 regulates micro-opioid receptor activities by tethering the receptor and G protein in the lipid raft.
Ge X, Qiu Y, Loh HH, Law PY.
J Biol Chem 284(52):36521-34. Epub 2009 Oct 27.PMID: 19861419 2009
30GRIN1
Ultrastructural relationship between N-methyl-D-aspartate-NR1 receptor subunit and mu-opioid receptor in the mouse central nucleus of the amygdala.
Glass MJ, Vanyo L, Quimson L, Pickel VM.
Neuroscience 163(3):857-67. Epub 2009 Jul 14.PMID: 19607886 2009
31GRIN1, GRIN3A
Interference with cellular differentiation by D-serine through antagonism at N-methyl-D-aspartate receptors composed of NR1 and NR3A subunits in chondrocytes.
Takarada T, Takahata Y, Iemata M, Hinoi E, Uno K, Hirai T, Yamamoto T, Yoneda Y.
J Cell Physiol 220(3):756-64.PMID: 19452450 2009
32GRIN1
NMDA receptor mediates proliferation and CREB phosphorylation in postnatal Müller glia-derived retinal progenitors.
Ramírez M, Lamas M.
Mol Vis 15:713-21. Epub 2009 Apr 10.PMID: 19365572 2009
33GRIN1
Kinase networks integrate profiles of N-methyl-D-aspartate receptor-mediated gene expression in hippocampus.
Coba MP, Valor LM, Kopanitsa MV, Afinowi NO, Grant SG.
J Biol Chem 283(49):34101-7. Epub 2008 Sep 23.PMID: 18815127 2008
34GRIN1
Disrupted motor learning and long-term synaptic plasticity in mice lacking NMDAR1 in the striatum.
Dang MT, Yokoi F, Yin HH, Lovinger DM, Wang Y, Li Y.
Proc Natl Acad Sci U S A 103(41):15254-9. Epub 2006 Oct 2. 2006
35GRIN1, GRIN2B
An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray.
Qin S, Zhao X, Pan Y, Liu J, Feng G, Fu J, Bao J, Zhang Z, He L.
Eur J Hum Genet 13(7):807-14. 2005
36GRIN1, GRIN2A
Subunit arrangement and function in NMDA receptors.
Furukawa H, Singh SK, Mancusso R, Gouaux E.
Nature 438(7065):185-92. 2005
37GRIN1
NMDA receptors are expressed in oligodendrocytes and activated in ischaemia.
Karadottir R, Cavelier P, Bergersen LH, Attwell D.
Nature 438(7071):1162-6. 2005
38GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIK1, GRIK2, GRIK3, GRIK5, GRIK4
NMDA receptors are expressed in developing oligodendrocyte processes and mediate injury.
Salter MG, Fern R.
Nature 438(7071):1167-71. 2005
39GRIN1, GRIN2B
Human T lymphocytes express N-methyl-D-aspartate receptors functionally active in controlling T cell activation.
Miglio G, Varsaldi F, Lombardi G.
Biochem Biophys Res Commun 338(4):1875-83. Epub 2005 Nov 9. 2005
40GRIN1
Turnover analysis of N-methyl-D-aspartate receptor subunit NR1 protein in PC12 cells.
Vazhappilly R, Sucher NJ.
Neurosci Lett 318(3):153-7. 2002
41GRIN1
Alternative splicing of the NMDAR1 glutamate receptor subunit in human temporal lobe epilepsy.
Musshoff U, Schunke U, Kohling R, Speckmann EJ.
Brain Res Mol Brain Res 76(2):377-84. 2000
42AKAP9, GRIN1
Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex.
Westphal RS, et al.
Science 285(5424):93-6 1999
43GRIN1, GRIN2A, GRIN2B, GRIN2C
Evidence relating human verbal memory to hippocampal N-methyl-D-aspartate receptors.
Grunwald T, Beck H, Lehnertz K, Blumcke I, Pezer N, Kurthen M, Fernandez G, Van Roost D, Heinze HJ, Kutas M, Elger CE.
Proc Natl Acad Sci U S A 96(21):12085-9. 1999
44AKAP9, GRIN1
Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1.
Lin JW, et al.
J Neurosci 18(6):2017-27. Review 1998
45GRIN1, GRIN2D
Expression of N-methyl-D-aspartate receptor subunit mRNA in the human brain: mesencephalic dopaminergic neurons.
Counihan TJ, et al.
J Comp Neurol 390(1):91-101 1998
46GRIN1, GRIN2A, GRIN2B
Expression of N-methyl-D-aspartate receptor subunit mRNAs in the human brain: hippocampus and cortex.
Scherzer CR, et al.
J Comp Neurol 390(1):75-90 1998
47GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D
Expression of N-methyl-D-aspartate receptor subunit mRNAs in the human brain: striatum and globus pallidus.
Kosinski CM, et al.
J Comp Neurol 390(1):63-74 1998
48GRIN1
Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains.
Nash NR, Heilman CJ, Rees HD, Levey AI.
J Neurochem 69(2):485-93. 1997
49GRIN1
Impaired hippocampal representation of space in CA1-specific NMDAR1 knockout mice.
McHugh TJ, Blum KI, Tsien JZ, Tonegawa S, Wilson MA.
Cell 87(7):1339-49. 1996
50GRIN1
Cloning and structure of the gene encoding the human N-methyl-D-asparate receptor (NMDAR1).
Zimmer M, et al.
Gene 159 : 219-223. 1995
51GRIN1
Genomic cloning and localization by FISH and linkage analysis of the human gene encoding the primary subunit NMDAR1 (GRIN1) of the NMDA receptor channel.
Brett PM, et al.
Ann Hum Genet 58 : 95-100. 1994
52GRIN1
Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits.
Foldes RL, Rampersad V, Kamboj RK.
Gene 147(2):303-4. 1994
53GRIN1
Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.
Karp SJ, et al.
J Biol Chem 268 : 3728-3733. 1993
54GRIN1, GRIN2A, GRIN2C
Chromosomal localization of the epsilon 1, epsilon 3 and dzŽta 1 subunit genes of the human NMDA receptor channel.
Takano H, et al.
Biochem Biophys Res Commun 197 : 922-926. 1993
55GRIN1
Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes 9q34.3 and chromosome 8, respectively.
Collins C, et al.
Genomics 17 : 237-239. 1993
56GRIN1
Localisation of the gene coding the primary subunit (NMDAR1) of the NMDA receptor channel to chromosome 9q34.
Brett PM, et al.
Am J Hum Genet 53 : 1270. 1993
57GRIN1
Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing.
Foldes RL, Rampersad V, Kamboj RK.
Gene 131(2):293-8. 1993
58GRIN1
Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain.
Planells-Cases R, Sun W, Ferrer-Montiel AV, Montal M.
Proc Natl Acad Sci U S A 90(11):5057-61. 1993
59GRIN1
Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain.
Tingley WG, Roche KW, Thompson AK, Huganir RL.
Nature 364(6432):70-3. 1993
60GRIN1
Heteromeric NMDA receptors: molecular and functional distinction of subtypes.
Monyer H, Sprengel R, Schoepfer R, Herb A, Higuchi M, Lomeli H, Burnashev N, Sakmann B, Seeburg PH.
Science 256(5060):1217-21. 1992