| 1 | GABBR1, GABBR2
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| Regulated expression and function of the GABAB receptor in human pancreatic beta cell line and islets
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| Rachdi L, Maugein A, Pechberty S, Armanet M, Hamroune J, Ravassard P, Marullo S, Albagli O, Scharfmann R.
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| Sci Rep. Aug 10;10(1):13469. doi: 10.1038/s41598-020-69758-6. 2020
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| 2 | GABBR2, NDPLHS
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| A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype
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| Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A.
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| Ann Neurol. Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. 2018
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| 3 | EIEE59, GABBR2, NDPLHS
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| GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
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| Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M.
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| Ann Neurol. Sep;82(3):466-478. doi: 10.1002/ana.25032. 2017
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| 4 | EIEE59, GABBR2
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| High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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| Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.
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| Am J Hum Genet. Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. 2017
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| 5 | GABBR1, GABBR2
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| GABAB receptors are expressed in human aortic smooth muscle cells and regulate the intracellular Ca(2+) concentration.
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| Wang XP, Cheng ZY, Schmid KL.
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| Heart Vessels 30(2):249-57. doi: 10.1007/s00380-014-0499-2. Epub 2014 Mar 30.
2015
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| 6 | DNM1, FASN, GABBR2, RYR3
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| De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
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| EuroEPINOMICS-RES Consortium.
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| Am J Hum Genet 95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.
2014
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| 7 | GABBR1, GABBR2
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| Heterodimeric coiled-coil interactions of human GABAB receptor.
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| Burmakina S, Geng Y, Chen Y, Fan QR.
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| Proc Natl Acad Sci U S A 111(19):6958-63. doi: 10.1073/pnas.1400081111. Epub 2014 Apr 28.
2014
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| 8 | GABBR1, GABBR2, KCNJ3, RTN4R
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| Post-transcriptional regulation of GABAB receptor and GIRK1 channels by Nogo receptor 1.
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| Murthy R, Kim J, Sun X, Giger RJ, Fink DJ, Mata M.
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| Mol Brain 6:30. doi: 10.1186/1756-6606-6-30.
2013
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| 9 | GABBR1, GABBR2
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| Endoplasmic reticulum sorting and kinesin-1 command the targeting of axonal GABAB receptors.
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| Valdés V, Valenzuela JI, Salas DA, Jaureguiberry-Bravo M, Otero C, Thiede C, Schmidt CF, Couve A.
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| PLoS One 7(8):e44168. doi: 10.1371/journal.pone.0044168. Epub 2012 Aug 27.
2012
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| 10 | GABBR1, GABBR2
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| Structure and functional interaction of the extracellular domain of human GABA(B) receptor GBR2.
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| Geng Y, Xiong D, Mosyak L, Malito DL, Kniazeff J, Chen Y, Burmakina S, Quick M, Bush M, Javitch JA, Pin JP, Fan QR.
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| Nat Neurosci 15(7):970-8. doi: 10.1038/nn.3133.
2012
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| 11 | CACNA1D, GABBR2
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| Direct interaction and functional coupling between voltage-gated CaV1.3 Ca2+ channel and GABAB receptor subunit 2.
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| Park HW, Jung H, Choi KH, Baik JH, Rhim H.
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| FEBS Lett 584(15):3317-22. Epub 2010 Jul 11.
2010
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| 12 | GABBR1, GABBR2
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| Mechanisms of GABAB receptor exocytosis, endocytosis, and degradation.
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| Benke D.
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| Adv Pharmacol 58:93-111. doi: 10.1016/S1054-3589(10)58004-9. Review.
2010
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| 13 | GABBR1, GABBR2
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| Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism.
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| Oblak AL, Gibbs TT, Blatt GJ.
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| J Neurochem 114(5):1414-23. doi: 10.1111/j.1471-4159.2010.06858.x. Epub 2010 Jun 12.
2010
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| 14 | CHRM2, GABBR2
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| Direct interaction of GABAB receptors with M2 muscarinic receptors enhances muscarinic signaling.
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| Boyer SB, Clancy SM, Terunuma M, Revilla-Sanchez R, Thomas SM, Moss SJ, Slesinger PA.
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| J Neurosci 29(50):15796-809.PMID: 20016095 2009
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| 15 | GABBR2
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| Single- and multilocus allelic variants within the GABA(B) receptor subunit 2 (GABAB2) gene are significantly associated with nicotine dependence.
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| Beuten J, Ma JZ, Payne TJ, Dupont RT, Crews KM, Somes G, Williams NJ, Elston RC, Li MD.
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| Am J Hum Genet 76(5):859-64. Epub 2005 Mar 9. 2005
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| 16 | GABBR1, GABBR2, JAKMIP1
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| Marlin-1, a novel RNA-binding protein associates with GABA receptors.
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| Couve A, Restituito S, Brandon JM, Charles KJ, Bawagan H, Freeman KB, Pangalos MN, Calver AR, Moss SJ.
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| J Biol Chem 279(14):13934-43. Epub 2004 Jan 12. 2004
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| 17 | GABBR2
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| Human GABA(B)R genomic structure: evidence for splice variants in GABA(B)R1 but not GABA(B)R2
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| Martin SC, Russek SJ, Farb DH.
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| Gene 278(1-2):63-79. 2001
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| 18 | GABBR2
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| Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.
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| Ng GY, et al.
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| Genomics 56(3):288-95. 1999
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| 19 | GABBR2
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| Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1.
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| Martin SC, et al.
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| Mol Cell Neurosci 13(3):180-91. 1999
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