Citations for
1EIEE43, EIEE45, GABRB1, GABRB3
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.
Janve VS, Hernandez CC, Verdier KM, Hu N, Macdonald RL.
Ann Neurol nn Neurol. 2016 Mar 7. doi: 10.1002/ana.24631. [Epub ahead of print] 2016
2EIEE45, GABRB1
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G.
Ann Neurol 80(2):311-2. doi: 10.1002/ana.24699. No abstract available. 2016
3GABRB1
The effect of folic acid on GABA(A)-B 1 receptor subunit.
Vasquez K, Kuizon S, Junaid M, Idrissi AE.
Adv Exp Med Biol 775:101-9. doi: 10.1007/978-1-4614-6130-2_8. 2013
4GABRB1, KCNJ6
GABAB-GIRK2-mediated signaling in Down syndrome.
Cramer NP, Best TK, Stoffel M, Siarey RJ, Galdzicki Z.
Adv Pharmacol 58:397-426. doi: 10.1016/S1054-3589(10)58015-3. Review. 2010
5GABRB1
GABAA receptor subunit beta1 is involved in the formation of protease-resistant prion protein in prion-infected neuroblastoma cells.
Kimura T, Ishikawa K, Sakasegawa Y, Teruya K, Sata T, Schätzl H, Doh-ura K.
FEBS Lett 584(6):1193-8. doi: 10.1016/j.febslet.2010.02.029. 2010
6GABRB1
Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors.
Bracamontes JR, Steinbach JH.
J Biol Chem 283(38):26128-36. doi: 10.1074/jbc.M801292200. 2008
7GABRB1
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.
Neurogenetics 7(3):167-74. 2006
8GABRB1, GABRB2
Prenatal alteration and distribution of the GABA(B1) and GABA(B2) receptor subunit mRNAs during rat central nervous system development.
Li S, Park MS, Kim MO.
Brain Res Dev Brain Res 150(2):141-50. 2004
9GABRB1
GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, Cittadella R, Bonavita S, Andreoli V, LePiane E, Sasanelli F, Di Costanzo A, Zappia M, Tedeschi G, Aguglia U, Quattrone A.
Neurology 60(4):560-3. 2003
10GABRB1, MAFD6
A study of genetic association between manic-depressive Illness and a highly polymorphic marker from the GABRbeta-1 gene.
Puertollano R, Visedo G, Zapata C, Fernandez-Piqueras J.
Am J Med Genet 74(3):342-4. 1997
11GABRB1
Genotype-to-phenotype analysis : search for clinical characteristics of a missense change in the GABA A-beta1 receptor gene.
Sobell JL, et al.
Am J Med Genet 67 : 81-84. 1996
12GABRB1
Search for mutations in the beta1 GABA A receptor subunit gene in patients with schizophrenia.
Coon H, et al.
Am J Med Genet 54 : 12-20. 1994
13GABRB1
Isolation, characterization, and localization of human genomic DNA encoding the beta-1 subunit of the GABAa receptor (GABRB1).
Kirkness EF, et al.
Genomics 10 : 985-995. 1991
14GABRB1, FCGR3B, CD247, DRD2, CD4, IGF1R
Genetic mapping of six human genes.
Dean M, et al.
(HGM11) Cytogenet Cell Genet 58 : 1853. 1991
15GABRB1
Genetic mapping of the beta-1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism.
Dean M, et al.
Am J Hum Genet 49 : 621-626. 1991
16GABRB1
Dinucleotide repeat polymorphism at the human beta-1 subunit of the GABAa receptor gene (GABRB1).
Polymeropoulos MH, et al.
Nucleic Acids Res 19 : 6345. 1991
17GABRB1
A tetranucleotide repeat polymorphism at the human beta1 GABA receptor gene and mapping of the gene to near the centromere of chromosome 4.
Goldman D, et al.
Am J Hum Genet 49S : 340. 1991
18GABRA1, GABRA2, GABRB1
Localization of human GABA-A receptor subunit genes to chromosomes 4 and 5.
Buckle VJ, et al.
(HGM10) Cytogenet Cell Genet 51 : 972. 1989