| De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. | De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M., Free PMC Article | 09/10/2024 |
| A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. | A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Vogel FD, Krenn M, Westphal DS, Graf E, Wagner M, Leiz S, Koniuszewski F, Augé-Stock M, Kramer G, Scholze P, Ernst M., Free PMC Article | 04/23/2022 |
| Further evidence of GABRA4 and TOP3B as autism susceptibility genes. | Further evidence of GABRA4 and TOP3B as autism susceptibility genes.
Riley JD, Delahunty C, Alsadah A, Mazzola S, Astbury C. | 01/2/2021 |
| Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor. | Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.
Pierce SR, Senneff TC, Germann AL, Akk G., Free PMC Article | 11/21/2020 |
| Study identified a rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. GABRA4 rare variants in noncoding DNA may be variants of modest physiological effects in ASD etiology. | Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.
Griswold AJ, Van Booven D, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA., Free PMC Article | 10/5/2019 |
| GABRA4 rs2229940 did not show association with migraine risk | Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.
García-Martín E, Esguevillas G, Serrador M, Alonso-Navarro H, Navacerrada F, Amo G, García-Albea E, Agúndez JAG, Jiménez-Jiménez FJ. | 10/5/2019 |
| These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome . | Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.
Jiménez-Jiménez FJ, Esguevillas G, Alonso-Navarro H, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Amo G, Rojo-Sebastián A, Rubio L, Díez-Fairén M, Pastor P, Calleja M, Plaza-Nieto JF, Pilo-de-la-Fuente B, Arroyo-Solera M, García-Albea E, Agúndez JAG, García-Martín E. | 02/2/2019 |
| rs505474, rs1398175, and rs4868029 in the GABRA2, GABRA4, and GABRP genes, respectively, allele frequencies were significantly different between patients and controls.Four haplotypes were significantly associated with Bipolar Disorder TA and AG for rs3815762 and rs4868029 in GABRP, GG for rs11636988 and rs8024256 in GABRB3 and GAGG for rs2197414, rs4921195, rs13188991, and rs11956731 in GABRA6. | Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population.
Ren H, Guan L, Zhao L, Lin Y, Wang Y, Yang Z, Li X, Ma X, Cheng X, Deng W, Aitchison KJ, Cao L, Li T. | 08/11/2018 |
| GABRA4 is associated with autism spectrum disorder in a dataset from Argentina. | Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
Sesarini CV, Costa L, Grañana N, Coto MG, Pallia RC, Argibay PF. | 04/9/2016 |
| The ability of neurosteroids to modulate the phosphorylation and membrane insertion of alpha4 subunit-containing GABAARs may underlie the profound effects these endogenous signaling molecules have on neuronal excitability and behavior. | Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABAA receptors.
Abramian AM, Comenencia-Ortiz E, Modgil A, Vien TN, Nakamura Y, Moore YE, Maguire JL, Terunuma M, Davies PA, Moss SJ., Free PMC Article | 07/12/2014 |
| Transgenic mice with the alpha4betadelta GABAA receptor subunit deletion show increased conditioned place preference, but not from delta-deficient or alpha4-deficient knockout mice. | Tonic inhibition of accumbal spiny neurons by extrasynaptic α4βδ GABAA receptors modulates the actions of psychostimulants.
Maguire EP, Macpherson T, Swinny JD, Dixon CI, Herd MB, Belelli D, Stephens DN, King SL, Lambert JJ., Free PMC Article | 03/15/2014 |
| The pathway by which GABRA2 initially confers risk for eventual alcohol problems begins with a predisposition to sensation-seeking early in adolescence. | How phenotype and developmental stage affect the genes we find: GABRA2 and impulsivity.
Dick DM, Aliev F, Latendresse S, Porjesz B, Schuckit M, Rangaswamy M, Hesselbrock V, Edenberg H, Nurnberger J, Agrawal A, Bierut L, Wang J, Bucholz K, Kuperman S, Kramer J., Free PMC Article | 08/31/2013 |
| Association between premenstrual symptom severity and two genes from the gamma-aminobutyric acid (GABA) pathway: steroid-5-alpha-reductase, alpha polypeptide 1 (SRD5A1) and gamma-aminobutyric acid receptor subunit alpha-4 (GABRA4). | SRD5A1 genotype frequency differences in women with mild versus severe premenstrual symptoms.
Adams M, McCrone S. | 06/9/2012 |
| single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET. | Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ. | 10/22/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Only two of the newly genotyped SNPs, rs10517173, rs16851647, were associated with nicotine dependence (observed P-values of 0.002, corrected FDR-BH P-values of 0.02). However, these SNPs were in complete LD with each other and with rs11731576. | Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerström Test for Nicotine Dependence.
Agrawal A, Pergadia ML, Balasubramanian S, Saccone SF, Hinrichs AL, Saccone NL, Breslau N, Johnson EO, Hatsukami D, Martin NG, Montgomery GW, Goate AM, Rice JP, Bierut LJ, Madden PA, Agrawal A, Pergadia ML, Balasubramanian S, Saccone SF, Hinrichs AL, Saccone NL, Breslau N, Johnson EO, Hatsukami D, Martin NG, Montgomery GW, Goate AM, Rice JP, Bierut LJ, Madden PA., Free PMC Articles: PMC2653081, PMC2653081 | 01/21/2010 |
| 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 (11) articlesPhysiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH. Association study of 182 candidate genes in anorexia nervosa.
Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. 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. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerström Test for Nicotine Dependence.
Agrawal A, Pergadia ML, Balasubramanian S, Saccone SF, Hinrichs AL, Saccone NL, Breslau N, Johnson EO, Hatsukami D, Martin NG, Montgomery GW, Goate AM, Rice JP, Bierut LJ, Madden PA, Agrawal A, Pergadia ML, Balasubramanian S, Saccone SF, Hinrichs AL, Saccone NL, Breslau N, Johnson EO, Hatsukami D, Martin NG, Montgomery GW, Goate AM, Rice JP, Bierut LJ, Madden PA. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
Craddock N, Jones L, Jones IR, Kirov G, Green EK, Grozeva D, Moskvina V, Nikolov I, Hamshere ML, Vukcevic D, Caesar S, Gordon-Smith K, Fraser C, Russell E, Norton N, Breen G, St Clair D, Collier DA, Young AH, Ferrier IN, Farmer A, McGuffin P, Holmans PA, Wellcome Trust Case Control Consortium (WTCCC), Donnelly P, Owen MJ, O'Donovan MC. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
Inada T, Koga M, Ishiguro H, Horiuchi Y, Syu A, Yoshio T, Takahashi N, Ozaki N, Arinami T. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.
Saccone SF, Hinrichs AL, Saccone NL, Chase GA, Konvicka K, Madden PA, Breslau N, Johnson EO, Hatsukami D, Pomerleau O, Swan GE, Goate AM, Rutter J, Bertelsen S, Fox L, Fugman D, Martin NG, Montgomery GW, Wang JC, Ballinger DG, Rice JP, Bierut LJ. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA. | 03/13/2008 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | See all PubMed (2) articlesGamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study.
Agrawal A, Pergadia ML, Saccone SF, Hinrichs AL, Lessov-Schlaggar CN, Saccone NL, Neuman RJ, Breslau N, Johnson E, Hatsukami D, Montgomery GW, Heath AC, Martin NG, Goate AM, Rice JP, Bierut LJ, Madden PA. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA, Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA. | 03/13/2008 |
| GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. | Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA, Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA., Free PMC Articles: PMC1226204, PMC1226204 | 01/21/2010 |
| truncated alpha 4 N-terminus may play a post-translational regulatory role in intracellular folding/glycosylation/assembly of the alpha 4 subunit | Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA.
Mu W, Cheng Q, Yang J, Burt DR. | 01/21/2010 |
| These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype. | Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA., Free PMC Articles: PMC1513515, PMC1513515 | 01/21/2010 |
| alpha4beta3gamma2L receptors have unique kinetic properties that limit the range of GABA applications to which they can respond maximally. | Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA.
Lagrange AH, Botzolakis EJ, Macdonald RL., Free PMC Article | 01/21/2010 |