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Association of GRIA1 polymorphisms with ovarian response to human menopausal gonadotropin in Iranian women.
Golestanpour H, Javadi G, Sheikhha MH. Golestanpour H, et al. Clin Exp Reprod Med. 2020 Sep;47(3):207-212. doi: 10.5653/cerm.2020.03370. Epub 2020 Aug 24. Clin Exp Reprod Med. 2020. PMID: 32829568 Free PMC article.
Few studies have investigated the association between the GRIA1 gene and human infertility. This study evaluated the association of the GRIA1 rs548294 C > T and rs2195450 G > A polymorphisms with the ovarian response to human menopausal gonadotro …
Few studies have investigated the association between the GRIA1 gene and human infertility. This study evaluated the associati …
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examine …
AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Incr …
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca …
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. Gl …
Genome-wide Mendelian randomization identifies actionable novel drug targets for psychiatric disorders.
Liu J, Cheng Y, Li M, Zhang Z, Li T, Luo XJ. Liu J, et al. Neuropsychopharmacology. 2023 Jan;48(2):270-280. doi: 10.1038/s41386-022-01456-5. Epub 2022 Sep 16. Neuropsychopharmacology. 2023. PMID: 36114287 Free PMC article.
We also identified 10 actionable drug targets by using brain proteome data, including 4 (HLA-DRB1, CAMKK2, P2RX7, and MAPK3) for schizophrenia, 1 (PRKCB) for bipolar disorder, 6 (PSMB4, IMPDH2, SERPINC1, GRIA1, P2RX7 and TAOK3) for depression. Of note, MAPK3 and HLA-DRB1 w …
We also identified 10 actionable drug targets by using brain proteome data, including 4 (HLA-DRB1, CAMKK2, P2RX7, and MAPK3) for schizophren …
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM, Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS, Baralle D. Ismail V, et al. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. doi: 10.1016/j.ajhg.2022.05.009. Epub 2022 Jun 7. Am J Hum Genet. 2022. PMID: 35675825 Free PMC article.
AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA4. Although GluA1-containing AMPARs have a crucial role in brain function, the human phenotype associated with deleterious GRIA1 …
AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA …
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.
Nievergelt CM, Maihofer AX, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Daskalakis NP, Duncan LE, Polimanti R, Aaronson C, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegoviç E, Babić D, Bacanu SA, Baker DG, Batzler A, Beckham JC, Belangero S, Benjet C, Bergner C, Bierer LM, Biernacka JM, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Brandolino A, Breen G, Bressan RA, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Bækvad-Hansen M, Børglum AD, Børte S, Cahn L, Calabrese JR, Caldas-de-Almeida JM, Chatzinakos C, Cheema S, Clouston SAP, Colodro-Conde L, Coombes BJ, Cruz-Fuentes CS, Dale AM, Dalvie S, Davis LK, Deckert J, Delahanty DL, Dennis MF, Desarnaud F, DiPietro CP, Disner SG, Docherty AR, Domschke K, Dyb G, Kulenović AD, Edenberg HJ, Evans A, Fabbri C, Fani N, Farrer LA, Feder A, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Gelernter J, Geuze E, Gillespie CF, Goleva SB, Gordon SD, Goçi A, Grasser LR, Guindalini C, Haas M, Hagenaars S, Hauser MA, Heath AC, Hemmings SMJ, Hesselbrock V, Hickie IB, Hogan K, Hougaard DM, Huang H, Huckins LM, Hveem K, Jakovljević M, Javanbakht A, Jenkins GD, Johnson J, Jones I, Jovanovic T, … See abstract for full author list ➔ Nievergelt CM, et al. Nat Genet. 2024 May;56(5):792-808. doi: 10.1038/s41588-024-01707-9. Epub 2024 Apr 18. Nat Genet. 2024. PMID: 38637617 Free PMC article.
Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modulators (for example, GRIA1, GRM8 and CACNA1E), developmental, axon guidance and transcription factors (for example, FOXP2, EFNA5 and D …
Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modul …
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, Kvarnung M, Tatton-Brown K, Baralle D, Tümer Z, Bayat A. Tvergaard NK, et al. Clin Genet. 2024 Oct;106(4):427-436. doi: 10.1111/cge.14577. Epub 2024 Jun 18. Clin Genet. 2024. PMID: 38890806
AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare GRIA variants can alter AMPAR currents leading to a loss- or gain-of-function. ...We deep-phenotyped a cohort comprising eight unrelated chi …
AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare …
Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression.
Asthana P, Kumar G, Milanowski LM, Au NPB, Chan SC, Huang J, Feng H, Kwan KM, He J, Chan KWY, Wszolek ZK, Ma CHE. Asthana P, et al. NPJ Regen Med. 2022 Sep 5;7(1):45. doi: 10.1038/s41536-022-00243-6. NPJ Regen Med. 2022. PMID: 36064798 Free PMC article.
Mechanistically, elevated glutamate-glutamine level was detected in DCN of ataxia mice by magnetic resonance spectroscopy. Transcriptomic study revealed that Gria1, an ionotropic glutamate receptor, was upregulated in DCN of control mice but failed to be upregulated in ata …
Mechanistically, elevated glutamate-glutamine level was detected in DCN of ataxia mice by magnetic resonance spectroscopy. Transcriptomic st …
Case-control study of GRIA1 and GRIA3 gene variants in migraine.
Fang J, An X, Chen S, Yu Z, Ma Q, Qu H. Fang J, et al. J Headache Pain. 2015;17:2. doi: 10.1186/s10194-016-0592-2. Epub 2016 Jan 22. J Headache Pain. 2015. PMID: 26800698 Free PMC article.
METHODS: A Han-Chinese case-control population, including 331 unrelated female migraine patients and 330 matched controls, was studied. Variants in genes (GRIA1 and GRIA3) were genotyped by Multiplex SNaPshot assay. RESULTS: In the group of patients, the frequency of allel …
METHODS: A Han-Chinese case-control population, including 331 unrelated female migraine patients and 330 matched controls, was studied. Vari …
Review of pharmacogenetics studies of L-asparaginase hypersensitivity in acute lymphoblastic leukemia points to variants in the GRIA1 gene.
Lopez-Santillan M, Iparraguirre L, Martin-Guerrero I, Gutierrez-Camino A, Garcia-Orad A. Lopez-Santillan M, et al. Drug Metab Pers Ther. 2017 Mar 1;32(1):1-9. doi: 10.1515/dmpt-2016-0033. Drug Metab Pers Ther. 2017. PMID: 28259867 Free article. Review.
In this review we have summarized the results of those studies which describe the involvement of four different genes, being polymorphisms in the glutamate receptor, ionotropic, AMPA 1 (GRIA1) the most frequently associated with asparaginase hypersensitivity. We also point …
In this review we have summarized the results of those studies which describe the involvement of four different genes, being polymorphisms i …
122 results