GABRB3 Antibody

1. Meta-analysis indicates that neither rs4906902 nor rs20317 are significantly associated with the risk of autism spectrum disorder. PMID: 30074174
2. rs4906902 and rs8179184 in the 5' promoter region of GABRB3 are associated with schizophrenia in Han Chinese. PMID: 29196882
3. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder..the data in this study identify GABRB3 as a candidate gene for Dravet syndrome PMID: 28544625
4. Results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism PMID: 28053010
5. GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence PMID: 25025424
6. Increased GABRB3 expression may confer an increased risk of schizophrenia. PMID: 24865167
7. 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. PMID: 24249596
8. With a weak association, data do not support the hypothesis that the GABRB3 variants are a cause of nonsyndromic cleft lip and/or palate PMID: 23438326
9. results provide additional evidence that GABRB3 and MAOB/NDP gene regions might constitute risk factors for hallucinations and delusions in schizophrenia. PMID: 22414661
10. The haplotype of C-A in rs4906902 and rs8179184 loci in the promoter of GABRB3 gene may be maternally inherited and positively associated with schizophrenia. PMID: 22812221
11. Our data suggest the K289M mutation in gamma2 confers GABA(A)Rs with enhanced sensitivity of their membrane diffusion to neuronal activity PMID: 21908847
12. Our results suggest both a mechanism for mutation-induced hyperexcitability and a novel role for the GABRB3 subunit N-terminal alpha-helix in receptor assembly and gating. PMID: 22303015
13. Gaba (A) beta1 and beta3 receptor subunit mRNA levels in the dorsolateral prefrontal cortex are not altered in schizophrenia. PMID: 20843900
14. This study provides evidence of an association between a specific GABA(A) receptor defect and autism, direct evidence that this defect causes synaptic dysfunction that is autism relevant and maternal risk effect in the 15q11-q13 autism duplication region. PMID: 19935738
15. linkage disequilibrium in cleft lip +/- cleft palate PMID: 11810291
16. Association between a GABRB3 polymorphism and autism PMID: 11920158
17. The presence of inherited insomnia in the family of the affected individual suggests a possible link between insomnia and the mutation beta3(R192H). PMID: 12189488
18. using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from beta 3 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits PMID: 12367595
19. Lack of anomalies in 15q11-q13 region may be related to small number of probands, heterogenity of studied group, and small number of studied loci and markers. PMID: 12491987
20. No significant difference in mRNA expression is found between the control and alcoholic case groups in either the superior frontal or motor cortex for the GABA A beta 3 isoform PMID: 15337300
21. Reduced expression of GABRB3 is associated with Rett, Angelman and autism PMID: 15615769
22. the expression of the GABAA receptor pi subunit may play an important role in the pathogenesis of pancreatic cancer PMID: 15767729
23. Our data indicated that the haplotype 'GACTCT' (p = 0.00215, frequency = 53.6%) was overtransmitted which suggests that GABRB2 is in linkage disequilibrium with schizophrenia in the Chinese Han population. PMID: 16023997
24. Reduced expression of the GABRB3 gene could therefore be one potential cause for the development of Childhood Absence Epilepsy. PMID: 16835263
25. study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with childhood absence epilepsy. no evidence that the common functional C-variant confers a substantial epileptogenic effect to a broad spectrum of IGE syndromes PMID: 17215107
26. Altered crosstalk between RA, GABAergic, and TGF-beta signaling systems could be involved in human cleft palate fibroblast phenotype. PMID: 17225872
27. finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to autism spectrum disorders in the Korean population PMID: 17230033
28. The results indicate that human hepatocellular carcinoma (HCC) tissues are depolarized compared with adjacent nontumor tissues, and hepatic GABAA-beta3 receptor expression is down-regulated in human HCC. PMID: 17326191
29. These results suggest that MeCP2 acts as a chromatin organizer for optimal expression of both alleles of GABRB3 in neurons. PMID: 17339270
30. Subjects with schizophrenia exhibited expression deficits in GABRB3. PMID: 17471287
31. observed no significant difference in allelic frequencies or genotypic distributions of the 11 SNPs of intron 3 of GABRB3 between patients and controls PMID: 17957331
32. The G1- alleles of the GABRB3 in children of alcoholics were significantly higher than nonCOAs. PMID: 18358985
33. gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population PMID: 18452349
34. Mutated GABRB3 could cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents. PMID: 18514161
35. Data show that GABRB3 is significantly altered in cerebellum and significant reductions in parietal cortex in subjects with autism. PMID: 18821008
36. GABRB3 may contribute differently to the cleft phenotype in Iowans and in Filipinos, with a stronger effect in cases with palate involvement in Iowa, versus an effect in cases with involvement only of the lip in the Philippines. PMID: 18837046
37. The data provide preliminary evidence that GABRB3 gene is associated with autism spectrum disorders in Korea. PMID: 19430570

显示更多

收起更多

HGNC: 4083

OMIM: 137192

KEGG: hsa:2562

STRING: 9606.ENSP00000299267

UniGene: Hs.302352