FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2009872558> ?p ?o ?g. }

• W2009872558 endingPage "41" @default.
• W2009872558 startingPage "27" @default.
• W2009872558 abstract "Choroideremia leads to degeneration of the outer retina with a characteristic clinical appearance that may first have been recognised in the nineteenth century. In sufferers, the appearance of the fundus is of a characteristic pale colour caused by the loss of the outer retina, retinal pigmented epithelium and choroidal vessels, leading to exposure of the underlying sclera. Visual symptoms begin with reduction of night vision and gradually progress to blindness by middle age. The choroideremia (CHM) gene was one of the first disease-causing genes to be identified by positional cloning in 1990. As CHM is located on the X chromosome, the disease follows an X-linked (and normally recessive) inheritance pattern. The CHM gene encodes Rab escort protein 1 (REP1), and characterisation of the gene and its protein product has led to better comprehension of the disease and enabled advances in genetic diagnosis. After several decades of research, we now have a clearer understanding of the exact pathogenesis, but despite this, no established treatments currently exist to stop or even slow the progression of retinal degeneration in choroideremia. Fortunately, some specific molecular and clinical features of choroideremia make it an ideal candidate for treatment with gene therapy. This chapter describes the consideration, challenges and early clinical findings in the development of a gene therapy treatment for choroideremia by using an adeno-associated virus (AAV) encoding the CHM gene." @default.
• W2009872558 created "2016-06-24" @default.
• W2009872558 creator A5046326117 @default.
• W2009872558 creator A5055338875 @default.
• W2009872558 creator A5062002030 @default.
• W2009872558 date "2014-11-26" @default.
• W2009872558 modified "2023-09-25" @default.
• W2009872558 title "Gene Therapy for Choroideremia" @default.
• W2009872558 cites W1505669099 @default.
• W2009872558 cites W1523008223 @default.
• W2009872558 cites W1585985640 @default.
• W2009872558 cites W1597915813 @default.
• W2009872558 cites W1971470549 @default.
• W2009872558 cites W1975968351 @default.
• W2009872558 cites W1979659851 @default.
• W2009872558 cites W1984764475 @default.
• W2009872558 cites W1985566364 @default.
• W2009872558 cites W1986500992 @default.
• W2009872558 cites W1990373664 @default.
• W2009872558 cites W1998167176 @default.
• W2009872558 cites W2000072353 @default.
• W2009872558 cites W2016489463 @default.
• W2009872558 cites W2017986205 @default.
• W2009872558 cites W2018910726 @default.
• W2009872558 cites W2023062131 @default.
• W2009872558 cites W2023962213 @default.
• W2009872558 cites W2030453853 @default.
• W2009872558 cites W2031861922 @default.
• W2009872558 cites W2032266382 @default.
• W2009872558 cites W2035101755 @default.
• W2009872558 cites W2045031393 @default.
• W2009872558 cites W2046047442 @default.
• W2009872558 cites W2048162805 @default.
• W2009872558 cites W2054158396 @default.
• W2009872558 cites W2057777449 @default.
• W2009872558 cites W2060341412 @default.
• W2009872558 cites W2063471759 @default.
• W2009872558 cites W2064199560 @default.
• W2009872558 cites W2073469611 @default.
• W2009872558 cites W2087333790 @default.
• W2009872558 cites W2105573867 @default.
• W2009872558 cites W2109305605 @default.
• W2009872558 cites W2111279074 @default.
• W2009872558 cites W2121662637 @default.
• W2009872558 cites W2126115955 @default.
• W2009872558 cites W2128033750 @default.
• W2009872558 cites W2137222303 @default.
• W2009872558 cites W2141575938 @default.
• W2009872558 cites W2142334980 @default.
• W2009872558 cites W2145508342 @default.
• W2009872558 cites W2148117680 @default.
• W2009872558 cites W2151809142 @default.
• W2009872558 cites W2151971960 @default.
• W2009872558 cites W2152204297 @default.
• W2009872558 cites W2152853777 @default.
• W2009872558 cites W2307337457 @default.
• W2009872558 cites W2313914167 @default.
• W2009872558 doi "https://doi.org/10.1007/978-3-662-45188-5_3" @default.
• W2009872558 hasPublicationYear "2014" @default.
• W2009872558 type Work @default.
• W2009872558 sameAs 2009872558 @default.
• W2009872558 citedByCount "0" @default.
• W2009872558 crossrefType "book-chapter" @default.
• W2009872558 hasAuthorship W2009872558A5046326117 @default.
• W2009872558 hasAuthorship W2009872558A5055338875 @default.
• W2009872558 hasAuthorship W2009872558A5062002030 @default.
• W2009872558 hasConcept C104317684 @default.
• W2009872558 hasConcept C111599444 @default.
• W2009872558 hasConcept C118487528 @default.
• W2009872558 hasConcept C2776391266 @default.
• W2009872558 hasConcept C2779418775 @default.
• W2009872558 hasConcept C2780827179 @default.
• W2009872558 hasConcept C3020804800 @default.
• W2009872558 hasConcept C54355233 @default.
• W2009872558 hasConcept C60644358 @default.
• W2009872558 hasConcept C71924100 @default.
• W2009872558 hasConcept C84597430 @default.
• W2009872558 hasConcept C86803240 @default.
• W2009872558 hasConceptScore W2009872558C104317684 @default.
• W2009872558 hasConceptScore W2009872558C111599444 @default.
• W2009872558 hasConceptScore W2009872558C118487528 @default.
• W2009872558 hasConceptScore W2009872558C2776391266 @default.
• W2009872558 hasConceptScore W2009872558C2779418775 @default.
• W2009872558 hasConceptScore W2009872558C2780827179 @default.
• W2009872558 hasConceptScore W2009872558C3020804800 @default.
• W2009872558 hasConceptScore W2009872558C54355233 @default.
• W2009872558 hasConceptScore W2009872558C60644358 @default.
• W2009872558 hasConceptScore W2009872558C71924100 @default.
• W2009872558 hasConceptScore W2009872558C84597430 @default.
• W2009872558 hasConceptScore W2009872558C86803240 @default.
• W2009872558 hasLocation W20098725581 @default.
• W2009872558 hasOpenAccess W2009872558 @default.
• W2009872558 hasPrimaryLocation W20098725581 @default.
• W2009872558 hasRelatedWork W2036214396 @default.
• W2009872558 hasRelatedWork W2093147840 @default.
• W2009872558 hasRelatedWork W2135537432 @default.
• W2009872558 hasRelatedWork W2566837574 @default.
• W2009872558 hasRelatedWork W2906620421 @default.

• next