Citations for
1GABRB3
Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.
Warrier V, Baron-Cohen S, Chakrabarti B.
Mol Autism 4(1):48. doi: 10.1186/2040-2392-4-48. 2013
2GABRB3
Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children.
Tavassoli T, Auyeung B, Murphy LC, Baron-Cohen S, Chakrabarti B.
Mol Autism 3(1):6. doi: 10.1186/2040-2392-3-6. 2012
3ECA5, GABRB3
Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.
Tanaka M, Bailey JN, Bai D, Ishikawa-Brush Y, Delgado-Escueta AV, Olsen RW.
Epilepsia 53(8):1450-6. doi: 10.1111/j.1528-1167.2012.03572.x. Epub 2012 Jul 5. 2012
4ECA5, GABRB3
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
Gurba KN, Hernandez CC, Hu N, Macdonald RL.
J Biol Chem 287(15):12083-97. doi: 10.1074/jbc.M111.332528. Epub 2012 Feb 2. 2012
5GABRA2, GABRB3
Expression of functional γ-aminobutyric acid type A receptors in Schwann-like adult stem cells.
Faroni A, Terenghi G, Magnaghi V.
J Mol Neurosci 47(3):619-30. doi: 10.1007/s12031-011-9698-9. Epub 2012 Jan 4. 2012
6GABRB3
Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.
DeLorey TM, Sahbaie P, Hashemi E, Li WW, Salehi A, Clark DJ.
Behav Brain Res 216(1):36-45. doi: 10.1016/j.bbr.2010.06.032. Epub 2010 Aug 10. 2011
7GABRB3
Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL, Sutcliffe JS.
Mol Psychiatry 16(1):86-96. doi: 10.1038/mp.2009.118. Epub 2009 Nov 24. 2011
8DUP15QP, GABRB3, NDN, SNRPN, UBE3A
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.
J Med Genet 46(2):86-93. Epub 2008 Oct 7. 2009
9DUP15QP, GABRB3
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder.
DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD.
Behav Brain Res ehav Brain Res. 2008 2008
10ECA5, GABRB3
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV.
Am J Hum Genet 82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020. 2008
11AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5. 2007
12GABRB3
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. 2006
13ECA5, GABRB3
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. Erratum in: Hum Mol Genet. 2006 Nov 1;15(21):3272. 2006
14UBE3A, MECP2, GABRB3, RTT, AUTS4
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
Samaco RC, Hogart A, LaSalle JM.
Hum Mol Genet 14(4):483-92. Epub 2004 Dec 22. 2005
15GABRB3, SCN2B, VAMP1, SYN2, CALM1, RAP2A, MAP2K4, YWHAZ, CDK5R1, RAB6A, SORT1, MAP1B, MAP2, HBB, CFHR1, ZNF238, FGF13
Gene regulation and DNA damage in the ageing human brain.
Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA.
Nature 429(6994):883-91. Epub 2004 Jun 09. 2004
16POU5F1, FOXD3, DNMT3B, FZD7, SDC4, GABRB3, GPC4, TERF1
Gene expression patterns in human embryonic stem cells and human pluripotent germ cell tumors.
Sperger JM, Chen X, Draper JS, Antosiewicz JE, Chon CH, Jones SB, Brooks JD, Andrews PW, Brown PO, Thomson JA.
Proc Natl Acad Sci U S A 100(23):13350-5. Epub 2003 Oct 31. 2003
17GABRB3
Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
Salmon B, et al.
Am J Med Genet 88(5):551-556 1999
18AUTS4, GABRB3
Genetic studies in autistic disorder and chromosome 15.
Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, De Long GR, Pericak-Vance MA.
Neurogenetics 2 : 219-226. 1999
19GABRB3, GABRA5
Structure and organization of GABRB3 and GABRA5.
Glatt K, et al.
Genomics 41 : 63-69. 1997
20GABRA5, GABRB3, GABRG3, EJM2
Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15.
Sander T, Kretz R, Williamson MP, Elmslie FV, Rees M, Hildmann T, Bianchi A, Bauer G, Sailer U, Scaramelli A, Schmitz B, Gardiner RM, Janz D, Beck-Mannagetta G.
Acta Neurol Scand 96(1):1-7. 1997
21GABRA5, GABRB3
Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution.
LaSalle JM, et al.
Nat Genet 9 : 386-394. 1995
22GABRB3, GABRA5
The human gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats.
Glatt K, et al.
Genomics 19 : 157-160. 1994
23AS,GABRB3
Exclusion of the GABAa-receptor beta3 subunit gene as the Angelman's syndrome gene.
Reis A, et al.
Lancet 341 : 122-123. 1993
24AS,GABRB3
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAa receptor beta3 subunit gene.
Saitoh S, et al.
Lancet 339 : 366-367. 1992
25GABRB3
Dinucleotide repeat polymorphism at the GABAa receptor beta3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Mutirangura A, et al.
Hum Mol Genet 1 : 67. 1992
26GABRB3
Localization of the gene encoding the GABAa receptor beta-3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
Wagstaff J, et al.
Am J Hum Genet 49 : 330-337. 1991
27GABRB3
The GABAa receptor beta3 subunit gene : characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.
Wagstaff J, et al.
Genomics 11 : 1071-1078 1991