Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Retinal_degeneration_(rhodopsin_mutation)> ?p ?o }
- Retinal_degeneration_(rhodopsin_mutation) abstract "Retinal degeneration is the deterioration of the retina caused by the progressive and eventual death of the cells of the retina. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P. (retrolental fibroplasia/ retinopathy of prematurity), or disease (usually hereditary). These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.Inherited retinal degenerative disorders in humans exhibit genetic and phenotypic heterogeneity in their underlying causes and clinical outcomes*. These retinopathies affect approximately one in 2000 individuals worldwide. A wide variety of causes have been attributed to retinal degeneration, such as disruption of genes that are involved in phototransduction, biosynthesis and folding of the rhodopsin molecule, and the structural support of the retina. Mutations in the rhodopsin gene account for 25% to 30% (30% to 40% according to) of all cases of autosomal dominant retinitis pigmentosa (adRP) in North America There are many mechanisms of retinal degeneration attributed to rhodopsin mutations or mutations that involve or affect the function of rhodopsin. One mechanism of retinal degeneration is rhodopsin overexpression. Another mechanism, whereby a mutation caused a truncated rhodopsin, was found to affect rod function and increased the rate of photoreceptor degeneration. *For example, a single peripherin/RDS splice site mutation was identified as the cause of retinopathy in eight families; the phenotype in these families ranged from retinitis pigmentosa to macular degeneration.↑ ↑ ↑ ↑ ↑ 5.0 5.1 ↑ 6.0 6.1 ↑ ↑ 8.0 8.1 ↑ 9.0 9.1 ↑ ↑ ↑ ↑ ↑ ↑".
- Retinal_degeneration_(rhodopsin_mutation) thumbnail Fundi_of_patient_with_Refsum_disease.jpg?width=300.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageID "22671435".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageLength "37865".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageOutDegree "72".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageRevisionID "679034375".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Allele.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Alleles.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Amino_acid.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Apoptosis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Arrestin.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Autosomal_dominant.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Biosynthesis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Blindness.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink C-terminus.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Category:Diseases_of_the_eye_and_adnexa.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Codon.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cone_cell.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cone_cells.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cytoplasm.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cytoplasmic.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Diabetic_retinopathy.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Dominance_(genetics).
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Electrophysiological.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Electrophysiology.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Endocytosis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Frameshift_mutation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink G_protein-coupled_receptors.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink G_protein–coupled_receptor.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Gene.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Gene_expression.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Genetic_code.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Genetically_modified_organism.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Genetics.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Hereditary.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Heredity.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Histidine.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Intron.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Kinase.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Locus_(genetics).
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Macular_degeneration.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Missense_mutation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Missense_mutations.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Mutation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Mutations.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neurodegeneration.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neurodegenerative.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neurodegenerative_disorder.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neuron.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neurons.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Night_blindness.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Nyctalopia.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Ommochrome.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Opsin.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Overexpression.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink PRPF31.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Peripheral_vision.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Peripherin.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Phenotypic_heterogeneity.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Photopigment.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Photoreceptor_cell.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Phototransduction.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Point_mutation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Point_mutations.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Prognosis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Proline.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink RNA_splicing.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retina.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retinal_detachment.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retinitis_pigmentosa.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retinopathy.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retinopathy_of_prematurity.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Retrolental_fibroplasia.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Rod_cell.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Rod_cells.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Splice_site.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Spliceosome.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transgenesis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transgenic.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transgenic_animals.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transmembrane.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transmembrane_protein.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Truncation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Tunnel_vision.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink United_States.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_acuity.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_field.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_impairment.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_perception.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_phototransduction.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Visual_pigment.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Wikt:spicule.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Wild-type.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Wild_type.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink File:Before_Retinitis_Pigmentosa-_normal_vision.jpg.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink File:Cajal_Retina.jpg.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink File:Fundi_of_patient_with_Refsum_disease.jpg.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink File:Retinitis_Pigmentosa-_tunnel_vision.jpg.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink File:Rhodopsin.jpeg.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLinkText "Retinal degeneration (rhodopsin mutation)".