Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Retinal_degeneration_(rhodopsin_mutation)> ?p ?o }
Showing triples 1 to 87 of
87
with 100 triples per page.
- 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 "38099".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageOutDegree "72".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageRevisionID "699119377".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Allele.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Amino_acid.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Apoptosis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Arrestin.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Biosynthesis.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink C-terminus.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Category:Diseases_of_the_eye_and_adnexa.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cone_cell.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Cytoplasm.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Diabetic_retinopathy.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Dominance_(genetics).
- 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_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 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 Mutation.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neurodegeneration.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Neuron.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Nyctalopia.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Ommochrome.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Opsin.
- 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 Point_mutation.
- 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 Rod_cell.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Spliceosome.
- Retinal_degeneration_(rhodopsin_mutation) wikiPageWikiLink Transgenesis.
- 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 Wikt:spicule.
- 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)".
- Retinal_degeneration_(rhodopsin_mutation) wikiPageUsesTemplate Template:Reflist.
- Retinal_degeneration_(rhodopsin_mutation) subject Category:Diseases_of_the_eye_and_adnexa.
- Retinal_degeneration_(rhodopsin_mutation) hypernym Deterioration.
- Retinal_degeneration_(rhodopsin_mutation) type Disease.
- Retinal_degeneration_(rhodopsin_mutation) type Redirect.
- Retinal_degeneration_(rhodopsin_mutation) comment "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).".
- Retinal_degeneration_(rhodopsin_mutation) label "Retinal degeneration (rhodopsin mutation)".
- Retinal_degeneration_(rhodopsin_mutation) sameAs Q7316761.
- Retinal_degeneration_(rhodopsin_mutation) sameAs m.05zn7mq.
- Retinal_degeneration_(rhodopsin_mutation) sameAs Q7316761.
- Retinal_degeneration_(rhodopsin_mutation) wasDerivedFrom Retinal_degeneration_(rhodopsin_mutation)?oldid=699119377.
- Retinal_degeneration_(rhodopsin_mutation) depiction Fundi_of_patient_with_Refsum_disease.jpg.
- Retinal_degeneration_(rhodopsin_mutation) isPrimaryTopicOf Retinal_degeneration_(rhodopsin_mutation).