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Rhodopsin, RHO
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, ROD, HAD, ADRP, ACID
Papers on Rhodopsin
Functional genomics identifies regulators of the phototransduction machinery in the Drosophila larval eye and adult ocelli.
Sprecher et al., Fribourg, Switzerland. In Dev Biol, Feb 2016
During development all PRs are genetically determined to express a specific Rhodopsin (Rh) gene and genes mediating a functional phototransduction pathway.
Rhodium Oxide Cluster Ions Studied by Thermal Desorption Spectrometry.
Kudoh et al., In J Phys Chem A, Feb 2016
RhnOm+ was suggested to be categorized into different states as m/n ≤ 1, 1 ≤ m/n ≤ 1.5 and 1.5 < m/n in terms of energy and kinetics: For m/n ≤ 1, the O atoms readily adsorbed on the cluster with a large binding energy until RhO was formed.
Deciphering the salinity adaptation mechanism in Penicilliopsis clavariiformis AP, a rare salt tolerant fungus from mangrove.
Srivastava et al., Mau, India. In J Basic Microbiol, Jan 2016
The detection and significant expression of fungus genes (Hsp98, Hsp60, HTB, and RHO) under saline stress suggest that these halotolerance conferring genes from the fungus could have a role in fungus protection and adaptation under saline environment.
Single-base pair differences in a shared motif determine differential Rhodopsin expression.
Desplan et al., East New York, United States. In Science, Jan 2016
To determine how these sequences integrate inputs from transcription factors that specify cell types, we compared the regulatory mechanism of Drosophila Rhodopsin genes that are expressed in subsets of photoreceptors to that of phototransduction genes that are expressed broadly, in all photoreceptors.
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Koenekoop et al., Montréal, Canada. In Invest Ophthalmol Vis Sci, Jan 2016
Eleven (46%) of these mutations were in RHO, four mutations (17%) were found in SNRNP200, three mutations (12.5%) in PRPH2/RDS, three mutations (12.5%) in TOPORS, two mutations (8%) in PRPF31, and one mutation (4%) in IMPDH1.
Visual circuits in flies: beginning to see the whole picture.
Desplan et al., New York City, United States. In Curr Opin Neurobiol, Oct 2015
Light is detected in the eye by photoreceptors, specialized neurons containing light sensing Rhodopsin proteins.
β-(1→3),(1→6)-Glucans: medicinal activities, characterization, biosynthesis and new horizons.
Gern et al., Joinville, Brazil. In Appl Microbiol Biotechnol, Oct 2015
The β-(1→3)-glucans are synthesized by β-(1→3)-glucan synthase (GLS), an enzyme belonging to the glucosyltransferase group, which has a catalytic unit (FKS) and another regulatory (RHO).
Signaling, Regulation, and Specificity of the Type II p21-activated Kinases.
Boggon et al., New Haven, United States. In J Biol Chem, Jun 2015
The p21-activated kinases (PAKs) are a family of six serine/threonine kinases that act as key effectors of RHO family GTPases in mammalian cells.
Protein lipid modifications and the regulation of ROP GTPase function.
Yalovsky, Tel Aviv-Yafo, Israel. In J Exp Bot, Mar 2015
In eukaryotes, the RHO superfamily of small G-proteins is implicated in the regulation of cell polarity and growth.
G17V RHOA: Genetic evidence of GTP-unbound RHOA playing a role in tumorigenesis in T cells.
Sakata-Yanagimoto et al., Tsukuba, Japan. In Small Gtpases, 2014
RHOA is a member of RHO family small GTPases.
Comprehensive molecular characterization of gastric adenocarcinoma.
Cancer Genome Atlas Research Network, In Nature, 2014
We propose a molecular classification dividing gastric cancer into four subtypes: tumours positive for Epstein-Barr virus, which display recurrent PIK3CA mutations, extreme DNA hypermethylation, and amplification of JAK2, CD274 (also known as PD-L1) and PDCD1LG2 (also known as PD-L2); microsatellite unstable tumours, which show elevated mutation rates, including mutations of genes encoding targetable oncogenic signalling proteins; genomically stable tumours, which are enriched for the diffuse histological variant and mutations of RHOA or fusions involving RHO-family GTPase-activating proteins; and tumours with chromosomal instability, which show marked aneuploidy and focal amplification of receptor tyrosine kinases.
Dynamic contacts: rearranging adherens junctions to drive epithelial remodelling.
Takeichi, Kōbe, Japan. In Nat Rev Mol Cell Biol, 2014
RHO GTPases and their effectors regulate actin polymerization and actomyosin contraction at AJs during the epithelial reshaping processes.
Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma.
Ishikawa et al., Tokyo, Japan. In Nat Genet, 2014
These positions are highly conserved among RHO family members, and Tyr42 and Arg5 are located outside the guanine nucleotide-binding pocket.
Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina.
Ali et al., London, United Kingdom. In Nat Biotechnol, 2013
We show that rod precursors derived by this protocol and selected via a GFP reporter under the control of a Rhodopsin promoter integrate within degenerate retinas of adult mice and mature into outer segment-bearing photoreceptors.
Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
Yu et al., Seoul, South Korea. In Ophthalmic Genet, 2012
Results present the possibility that cystoid macular edema in retinitis pigmentosa patients may be associated with a specific genotype such as the p.P347L in rhodopsin.
IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.
Lin et al., San Diego, United States. In Mol Biol Cell, 2012
these findings reveal the diversity of proteolytic mechanisms used by IRE1 to eliminate misfolded rhodopsin.
Solvent Effects on the Radiative and Nonradiative Decay of a Model of the Rhodopsin Chromophore.
Aguilar et al., Badajoz, Spain. In J Chem Theory Comput, 2012
The radiative and nonradiative decay of a model with five double bonds of the 11-cis-retinal protonated Schiff base was studied both in vacuum and in methanol solution using an extended version of the averaged solvent electrostatic potential from molecular dynamics data (ASEP/MD) method that allows the location of crossing points between free energy surfaces both in equilibrium and in frozen solvent conditions.
Defective trafficking of rhodopsin and its role in retinal degenerations.
Gross et al., Birmingham, United States. In Int Rev Cell Mol Biol, 2011
Defective trafficking of rhodopsin and its role in retinal degenerations.
Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
Bhattacharya et al., London, United Kingdom. In Mol Vis, 2011
A novel deletion in exon 3 of the RHO gene, c.614-622del results in a classical form of retinitis pigmentosa in a multi-generation French family.
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Ayuso et al., Madrid, Spain. In Mol Vis, 2011
RHO was found to be the most frequently mutated gene in Spanish families with autosomal dominant retinitis pigmentosa.
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