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GABA(A) Receptor Downregulation in Brains of Subjects with Autism.
S Fatemi et al.
Journal of autism and developmental disorders, (23 Sep 2008)
Posted by markcorrales to GABRA2 GABRB3 autism GABA on Tue Sep 30 2008 at 20:05 UTC | info | related
 
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
Rodney C Samaco, Amber Hogart, and Janine M LaSalle
Human molecular genetics. 14 (4), 483-92 (15 Feb 2005)
 
[Molecular analysis of the GABRB3 gene in autistic patients: an exploratory study]
Ernesto Solís-Añez et al.
Investigación clínica 48 (2), 225-42 (Jun 2007)
Posted by markcorrales to GABRB3 autism genetics on Sat Jun 30 2007 at 19:56 UTC | info | related
 
Clinical and molecular genetics of ADHD and Tourette syndrome. Two related polygenic disorders.
D E Comings
Annals of the New York Academy of Sciences 931, 50-83 (Jun 2001)
 
alpha4beta3delta GABA(A) receptors characterized by fluorescence resonance energy transfer-derived measurements of membrane potential.
C E Adkins et al.
The Journal of biological chemistry 276 (42), 38934-9 (19 Oct 2001)
pregnanalone
 
Poster- Independent replication of autism association in several neuronal connectivity genes
J A Duvall et al.
The American Society of Human Genetics - Annual Meeting, (Oct 2006)
"Four SNPs showing significant autism association (TDT p≤0.05) in both the original analysis and the follow-up analysis were identified in three genes: NRXN3, SLIT1, and GABRB3. These findings indicate that genes involved in neuronal connectivity pathways may contribute to autism in some individuals, but also suggest that the contribution from each of these variants is likely to be small. This study presents the first attempt to provide comphrehensive genetic evidence for disruption of biological pathways related to neuronal connectivity in autism pathogenesis. Association analysis using haplotype blocks and testing of other pathway members is ongoing."
 
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
Amber Hogart et al.
Human molecular genetics 16 (6), 691-703 (15 Mar 2007)
 
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
Lydia Urak et al.
Human molecular genetics. 15 (16), 2533-41 (15 Aug 2006)
"disease-associated haplotype 2 promoter causes a significantly lower transcriptional activity" ("impairs binding of the neuron-specific transcriptional activator N-Oct-3")
 
Decreased GABA receptor expression in the seizure-prone fragile X mouse
Neuroscience Letters 377 (3), 141 (2005)
 
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.
Adrian Handforth et al.
Epilepsia. 46 (12), 1860-70 (Dec 2005)

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