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This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula.
To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms in the G-protein signaling 9 gene
These findings indicate a role for RGS9 gene polymorphisms in heroin dependence and may be informative for future genetic or biological studies on heroin dependence.
the GAP activity of RGS9-2 showed a strong receptor preference for D2R over MOR. Finally, RGS7 displayed an four times greater GAP activity relative to RGS9-2.
These studies with humans, rats and mice implicate RGS9-2 as a factor in regulating body weight.
beta-Arrestin2 is required for the inhibition of D3R signaling by RGS9-2.
Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors
The main goal of this review is to illustrate how various functions are fulfilled through the interplay between the intrinsic molecular properties of RGS9 isoforms.
The expression of RGS9-2 inhibits dopamine-mediated cellular internalization of the dopamine 2 (D2) receptor.
no association with schizophrenia in an Israeli Jewish population
This is the first report describing a nonsense mutation in RGS9.
five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones
under certain conditions, RGS9 and Gbeta5 may possibly function as betagamma dimer
homozygous mutations in RGS9 gene that encodes the photoreceptor GTPase accelerating protein and its anchor protein, respectively, have been identifird in patients with bradyopsia.
In the haplotype analysis, a significant association of the AGG haplotype (rs8077696-rs8070231-rs2292593) of the RGS9 gene was found (permutation P = 0.007)
This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.
regulator of G-protein signalling 9
, regulator of G-protein signaling 9
, ROS GAP