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Mutation analysis of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia.

Sakurai K., Toru M., Yamakawa-Kobayashi K., Arinami T.

Neurosci. Lett. 296:168-170(2000) GAD 124244 GeneRIF 2902 · Mapped (3)
Not Associated with PSYCH: schizophrenia; GAD 124244 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.

Williams N.M., Bowen T., Spurlock G., Norton N., Williams H.J., Hoogendoorn B., Owen M.J., O'Donovan M.C.

Mol. Psychiatry 7:508-514(2002) GAD 124248 GeneRIF 2902 · Mapped (17)
Not Associated with PSYCH: schizophrenia; GAD 124248 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

Polymorphism analysis of the upstream region of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia.

Tani A., Kikuta R., Itoh K., Joo A., Shibata H., Ninomiya H., Tashiro N., Fukumaki Y.

Schizophr. Res. 58:83-86(2002) GAD 124241 GeneRIF 2902 · Mapped (3)
Not Associated with PSYCH: schizophrenia; GAD 124241 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia.

Begni S., Moraschi S., Bignotti S., Fumagalli F., Rillosi L., Perez J., Gennarelli M.

Biol. Psychiatry 53:617-619(2003) GAD 124242 GAD 124238 GeneRIF 2902 · Mapped (3)
Associated with PSYCH: schizophrenia; GAD 124242 GAD 124238 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.

Wernicke C., Samochowiec J., Schmidt L.G., Winterer G., Smolka M., Kucharska-Mazur J., Horodnicki J., Gallinat J., Rommelspacher H.

Biol. Psychiatry 54:922-928(2003) GAD 124243 GeneRIF 2902 GAD 124239 · Mapped (9)
Associated with CHEMDEPENDENCY: alcoholism-related traits; GAD 124239 Associated with CHEMDEPENDENCY: alcoholism; GAD 124243 Variants in NMDAR genes are associated with alcoholism and related traits; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal.

Rujescu D., Soyka M., Dahmen N., Preuss U., Hartmann A.M., Giegling I., Koller G., Bondy B., Moller H.J., Szegedi A.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 133B:85-87(2005) GAD 124247 GeneRIF 2902 · Mapped (3)
Associated with NEUROLOGICAL: seizures; GAD 124247 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

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. 13:807-814(2005) GAD 124249 GeneRIF 2902 · Mapped (5)
Associated with PSYCH: schizophrenia; GAD 124249 the combined effects of the polymorphisms in the GRIN1 and GRIN2B genes might be involved in the etiology of schizophrenia. GeneRIF 2902

A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.

Comings D.E., Gade-Andavolu R., Gonzalez N., Wu S., Muhleman D., Blake H., Mann M.B., Dietz G., Saucier G., MacMurray J.P.

Clin. Genet. 58:375-385(2000) GeneRIF 2902 · Mapped (309)
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) GeneRIF 2902

Turnover analysis of N-methyl-D-aspartate receptor subunit NR1 protein in PC12 cells.

Vazhappilly R., Sucher N.J.

Neurosci. Lett. 318:153-157(2002) GeneRIF 2902 · Mapped (3)
the rapidly and slowly degrading pools mainly consisted of the NR1 splice variants NR1-4a and NR1-2a. deglycosylation by endoglycosidase H indicated the presence of an immature form of NR1 that was retained in the endoplasmic reticulum. GeneRIF 2902

Further characterization of the molecular interaction between PSD-95 and NMDA receptors: the effect of the NR1 splice variant and evidence for modulation of channel gating.

Rutter A.R., Freeman F.M., Stephenson F.A.

J. Neurochem. 81:1298-1307(2002) GeneRIF 2902 · Mapped (3)
molecular interaction between PSD-95 and nmda receptors: the effct of the NR1 splice variant on channel gating. GeneRIF 2902

Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia.

Hammond L., Castanotto D., Rice S.R., Nimgaonkar V.L., Wirshing D.A., Rossi J.J., Heston L.L., Sobell J.L.

Am. J. Med. Genet. 114:631-636(2002) GeneRIF 2902 GAD 124240 · Mapped (3)
Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia. GeneRIF 2902 Not Associated with PSYCH: schizophrenia; GAD 124240

Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder.

Mundo E., Tharmalingham S., Neves-Pereira M., Dalton E.J., Macciardi F., Parikh S.V., Bolonna A., Kerwin R.W., Arranz M.J., Makoff A.J. et al.

Mol. Psychiatry 8:241-245(2003) GeneRIF 2902 · Mapped (3)
involvement of the GRIN1 in the pathogenesis of bipolar disorder GeneRIF 2902

N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia: TDT and case-control analyses.

Martucci L., Wong A.H., Trakalo J., Cate-Carter T., Wong G.W., Macciardi F.M., Kennedy J.L.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 119B:24-27(2003) GeneRIF 2902 · Mapped (3)
Observational study of gene-disease association. (HuGE Navigator); Tested the association of two silent polymorphisms a G/C substitution localized on the 5' UTR and an A/G substitution localized in exon 6 with schizophrenia and found no significant results. Haplotype analyses showed a borderline significant result. GeneRIF 2902

Glutamate causes a loss in human cerebral endothelial barrier integrity through activation of NMDA receptor.

Sharp C.D., Hines I., Houghton J., Warren A., Jackson T.H., Jawahar A., Nanda A., Elrod J.W., Long A., Chi A. et al.

Am. J. Physiol. Heart Circ. Physiol. 285:H2592-8(2003) GeneRIF 2902 · Mapped (9)
human cerebral endothelial cells express the message and protein for NMDA receptors. GeneRIF 2902

NMDA receptor 1 expression in the brainstem of human infants and its relevance to the sudden infant death syndrome (SIDS).

Machaalani R., Waters K.A.

J. Neuropathol. Exp. Neurol. 62:1076-1085(2003) GeneRIF 2902 · Mapped (3)
SIDS infants had increased mRNA in 6 nuclei of the mid-medulla while protein was increased in the dorsal motor nucleus of the vagus (p = 0.04) and decreased in the nucleus of the spinal trigeminal tract (p = 0.03). GeneRIF 2902

NF-kappaB site interacts with Sp factors and up-regulates the NR1 promoter during neuronal differentiation.

Liu A., Hoffman P.W., Lu W., Bai G.

J. Biol. Chem. 279:17449-17458(2004) GeneRIF 2902 · Mapped (18)
the NR1 promoter is positively regulated by NF-kappaB site during neuronal differentiation by interacting with Sp3/Sp1 GeneRIF 2902

Decreased phosphorylation of NMDA receptor type 1 at serine 897 in brains of patients with Schizophrenia.

Emamian E.S., Karayiorgou M., Gogos J.A.

J. Neurosci. 24:1561-1564(2004) GeneRIF 2902 · Mapped (3)
A significant decrease in the phosphorylation level at serine 897 (S897) of the NMDA receptor type 1 (NR1) subunit was found in brains from patients with schizophrenia GeneRIF 2902

Selective loss of NMDA receptor NR1 subunit isoforms in Alzheimer's disease.

Hynd M.R., Scott H.L., Dodd P.R.

J. Neurochem. 89:240-247(2004) GeneRIF 2902 · Mapped (3)
Absolute levels of the eight NR1 transcripts by quantitative internally standardized RT-PCR assay were measured; expression was strongly attenuated in susceptible regions of Alzheimer's disease brain GeneRIF 2902

Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia.

Ying Z., Bingaman W., Najm I.M.

Epilepsia 45:314-321(2004) GeneRIF 2902 · Mapped (6)
Increased coassembly of NR1 and NR2B with PSD-95 may underlie one of the cellular mechanisms that contributes to in situ increased hyperexcitability leading to seizure generation in focal cortical dysplasia. GeneRIF 2902

Characterization of the expression and function of N-methyl-D-aspartate receptor in keratinocytes.

Morhenn V.B., Murakami M., O'Grady T., Nordberg J., Gallo R.L.

Exp. Dermatol. 13:505-511(2004) GeneRIF 2902 · Mapped (3)
NMDA receptor may play a role in the regulation of keratinocyte growth and differentiation GeneRIF 2902

Expression of epidermal N-methyl-D-aspartate receptors (NMDAR1) depends on formation of the granular layer--analysis in diseases with parakeratotic cornification.

Fischer M., William T., Helmbold P., Wohlrab J., Marsch W.C.h.

Arch. Dermatol. Res. 296:157-162(2004) GeneRIF 2902 · Mapped (3)
NMDA receptors are expressed in human epidermis under physiological conditions especially in stratum granulosum. Their reduced expression within parakeratotic epidermis in psoriasis vulgaris may be evidence of impaired intracellular calcium influx. GeneRIF 2902

Arginine 260 of the amino-terminal domain of NR1 subunit is critical for tissue-type plasminogen activator-mediated enhancement of N-methyl-D-aspartate receptor signaling.

Fernandez-Monreal M., Lopez-Atalaya J.P., Benchenane K., Cacquevel M., Dulin F., Le Caer J.P., Rossier J., Jarrige A.C., Mackenzie E.T., Colloc'h N. et al.

J. Biol. Chem. 279:50850-50856(2004) GeneRIF 2902 · Mapped (7)
arginine 260 is necessary for both tPA-induced cleavage of the ATD of NR1 and tPA-induced potentiation of NMDA receptor signaling GeneRIF 2902

The NR1 subunit of the glutamate/NMDA receptor in the superior temporal cortex in schizophrenia and affective disorders.

Nudmamud-Thanoi S., Reynolds G.P.

Neurosci. Lett. 372:173-177(2004) GeneRIF 2902 · Mapped (3)
A tendency to a decrease in the density of the NR1 upper band below control values is found in superior temporal cortex of bipolar and depressed patients but not schizophrenics. GeneRIF 2902

Systematic screening for mutations in the human N-methyl-D-aspartate receptor 1 gene in schizophrenic patients from the German population.

Paus S., Rietschel M., Schulze T.G., Ohlraun S., Diaconu C.C., Van Den Bogaert A., Maier W., Propping P., Cichon S., Nothen M.M.

Psychiatr. Genet. 14:233-234(2004) GeneRIF 2902 · Mapped (3)
Genes for the NMDAR1 subunit is not frequently involved in the development of schizophrenia in the German population; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2902

Subunit assembly of N-methyl-d-aspartate receptors analyzed by fluorescence resonance energy transfer.

Qiu S., Hua Y.L., Yang F., Chen Y.Z., Luo J.H.

J. Biol. Chem. 280:24923-24930(2005) GeneRIF 2902 · Mapped (15)
the conformation of NR1 subunit homodimers is affected by the partner NR2 subunits during the formation of heteromeric receptor complexes GeneRIF 2902

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