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    GABRD gamma-aminobutyric acid type A receptor subunit delta [ Homo sapiens (human) ]

    Gene ID: 2563, updated on 10-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

    Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
    Pelgrims E, Lynch SA, Hannes L, Hoffer MJV, Melotte C, Van Haeringen A, Swillen A, Breckpot J.

    06/13/2023
    The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis.

    The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.
    Li N, Xu X, Liu D, Gao J, Gao Y, Wu X, Sheng H, Li Q, Mi J., Free PMC Article

    03/21/2023
    Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.

    Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.
    Xie X, Zhuang D, Gu J, Wu T, Shen W, Li L, Liu Y, Xu W, Hong Q, Xu Z, Chen W, Zhou W, Liu H.

    02/28/2023
    Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.

    Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.
    Lin YF, Chou WH, Liu TH, Fang CP, Kuo HW, Kuo PH, Tsai SJ, Wang SC, Chung RH, Tsou HH, Chen ACH, Liu YL., Free PMC Article

    01/14/2023
    Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

    Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
    Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS., Free PMC Article

    06/11/2022
    Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.

    Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.
    Xie X, Gu J, Zhuang D, Shen W, Li L, Liu Y, Xu W, Hong Q, Chen W, Zhou W, Liu H.

    12/11/2021
    Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.

    Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.
    Liu T, Fang Y., Free PMC Article

    11/6/2021
    In IDH wild-type diffuse low-grade glioma patients preserved GABRD expression was independently associated with longer overall survival and reduced tumor infiltration macrophages(TIM). CpG methylation of cg13916816 showed a moderately negative correlation with GABRD expression.

    Systemic screening identifies GABRD, a subunit gene of GABAA receptor as a prognostic marker in adult IDH wild-type diffuse low-grade glioma.
    Zhang H, Zhang L, Tang Y, Wang C, Chen Y, Shu J, Zhang K.

    05/9/2020
    This study found that increased methylation of the promoter of the delta subunit GABAA receptor was associated with reduced mRNA and protein levels in the cerebellum of alcohol use disorder subjects.

    Emerging Role of One-Carbon Metabolism and DNA Methylation Enrichment on δ-Containing GABAA Receptor Expression in the Cerebellum of Subjects with Alcohol Use Disorders (AUD).
    Gatta E, Auta J, Gavin DP, Bhaumik DK, Grayson DR, Pandey SC, Guidotti A., Free PMC Article

    02/3/2018
    Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism.

    Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.
    Sesarini CV, Costa L, Naymark M, Grañana N, Cajal AR, García Coto M, Pallia RC, Argibay PF.

    11/8/2014
    Genome-wide association studies identify GABRD mutation releated to juvenile myoclonic epilepsy

    The quest for juvenile myoclonic epilepsy genes.
    Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM.

    02/1/2014
    In recombinant human cDNA experiments in HEK293 cells, delta subunit coexpression leads to receptors activated by nanomolar THIP concentrations.

    Molecular basis for the high THIP/gaboxadol sensitivity of extrasynaptic GABA(A) receptors.
    Meera P, Wallner M, Otis TS., Free PMC Article

    02/11/2012
    These findings point to the GABRD gene as a susceptibility gene for COMD.

    Association of the GABRD gene and childhood-onset mood disorders.
    Feng Y, Kapornai K, Kiss E, Tamás Z, Mayer L, Baji I, Daróczi G, Benák I, Kothencné VO, Dombovári E, Kaczvinszk E, Besnyo M, Gádoros J, Székely J, Kovacs M, Vetró A, Kennedy JL, Barr CL, Feng Y, Kapornai K, Kiss E, Tamás Z, Mayer L, Baji I, Daróczi G, Benák I, Kothencné VO, Dombovári E, Kaczvinszk E, Besnyo M, Gádoros J, Székely J, Kovacs M, Vetró A, Kennedy JL, Barr CL., Free PMC Articles: PMC2935687, PMC2935687

    01/1/2011
    Lower delta mRNA levels in schizophrenia might reflect a reduced number of alpha(1)beta(x)delta GABA(A) receptors that could contribute to deficient tonic inhibition and prefrontal cortical dysfunction in schizophrenia.

    Altered markers of tonic inhibition in the dorsolateral prefrontal cortex of subjects with schizophrenia.
    Maldonado-Avilés JG, Curley AA, Hashimoto T, Morrow AL, Ramsey AJ, O'Donnell P, Volk DW, Lewis DA., Free PMC Article

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    Association of the GABRD gene and childhood-onset mood disorders.
    Feng Y, Kapornai K, Kiss E, Tamás Z, Mayer L, Baji I, Daróczi G, Benák I, Kothencné VO, Dombovári E, Kaczvinszk E, Besnyo M, Gádoros J, Székely J, Kovacs M, Vetró A, Kennedy JL, Barr CL, Feng Y, Kapornai K, Kiss E, Tamás Z, Mayer L, Baji I, Daróczi G, Benák I, Kothencné VO, Dombovári E, Kaczvinszk E, Besnyo M, Gádoros J, Székely J, Kovacs M, Vetró A, Kennedy JL, Barr CL.

    Genetical genomic determinants of alcohol consumption in rats and humans.
    Tabakoff B, Saba L, Printz M, Flodman P, Hodgkinson C, Goldman D, Koob G, Richardson HN, Kechris K, Bell RL, Hübner N, Heinig M, Pravenec M, Mangion J, Legault L, Dongier M, Conigrave KM, Whitfield JB, Saunders J, Grant B, Hoffman PL, WHO/ISBRA Study on State and Trait Markers of Alcoholism.

    Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group.

    Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
    Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T.

    03/13/2008
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