FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W30375830> ?p ?o ?g. }

• W30375830 abstract "To identify the causative mutation in a canine cone-rod dystrophy (crd3) that segregates as an adult onset disorder in the Glen of Imaal Terrier breed of dog.Glen of Imaal Terriers were ascertained for crd3 phenotype by clinical ophthalmoscopic examination, and in selected cases by electroretinography. Blood samples from affected cases and non-affected controls were collected and used, after DNA extraction, to undertake a genome-wide association study using Affymetrix Version 2 Canine single nucleotide polymorphism chips and 250K Sty Assay protocol. Positional candidate gene analysis was undertaken for genes identified within the peak-association signal region. Retinal morphology of selected crd3-affected dogs was evaluated by light and electron microscopy.A peak association signal exceeding genome-wide significance was identified on canine chromosome 16. Evaluation of genes in this region suggested A Disintegrin And Metalloprotease domain, family member 9 (ADAM9), identified concurrently elsewhere as the cause of human cone-rod dystrophy 9 (CORD9), as a strong positional candidate for canine crd3. Sequence analysis identified a large genomic deletion (over 20 kb) that removed exons 15 and 16 from the ADAM9 transcript, introduced a premature stop, and would remove critical domains from the encoded protein. Light and electron microscopy established that, as in ADAM9 knockout mice, the primary lesion in crd3 appears to be a failure of the apical microvilli of the retinal pigment epithelium to appropriately invest photoreceptor outer segments. By electroretinography, retinal function appears normal in very young crd3-affected dogs, but by 15 months of age, cone dysfunction is present. Subsequently, both rod and cone function degenerate.Identification of this ADAM9 deletion in crd3-affected dogs establishes this canine disease as orthologous to CORD9 in humans, and offers opportunities for further characterization of the disease process, and potential for genetic therapeutic intervention." @default.
• W30375830 created "2016-06-24" @default.
• W30375830 creator A5004096202 @default.
• W30375830 creator A5005511136 @default.
• W30375830 creator A5010735748 @default.
• W30375830 creator A5014611355 @default.
• W30375830 creator A5016715548 @default.
• W30375830 creator A5046597133 @default.
• W30375830 creator A5058822190 @default.
• W30375830 creator A5068023836 @default.
• W30375830 creator A5074235585 @default.
• W30375830 creator A5078087543 @default.
• W30375830 creator A5089399007 @default.
• W30375830 date "2010-08-11" @default.
• W30375830 modified "2023-09-25" @default.
• W30375830 title "An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9." @default.
• W30375830 cites W1554372034 @default.
• W30375830 cites W1967491345 @default.
• W30375830 cites W1987149071 @default.
• W30375830 cites W1988589573 @default.
• W30375830 cites W1991968981 @default.
• W30375830 cites W1994730862 @default.
• W30375830 cites W1996511362 @default.
• W30375830 cites W1996875707 @default.
• W30375830 cites W2008128385 @default.
• W30375830 cites W2024642024 @default.
• W30375830 cites W2033771299 @default.
• W30375830 cites W2034036682 @default.
• W30375830 cites W2034458200 @default.
• W30375830 cites W2035268284 @default.
• W30375830 cites W2047548224 @default.
• W30375830 cites W2050748970 @default.
• W30375830 cites W2052127481 @default.
• W30375830 cites W2058217811 @default.
• W30375830 cites W2058779010 @default.
• W30375830 cites W2068952795 @default.
• W30375830 cites W2075292410 @default.
• W30375830 cites W2078495124 @default.
• W30375830 cites W2085024301 @default.
• W30375830 cites W2103571477 @default.
• W30375830 cites W2106554167 @default.
• W30375830 cites W2113920630 @default.
• W30375830 cites W2114611642 @default.
• W30375830 cites W2115797109 @default.
• W30375830 cites W2121662637 @default.
• W30375830 cites W2122603731 @default.
• W30375830 cites W2126514623 @default.
• W30375830 cites W2128461993 @default.
• W30375830 cites W2130576545 @default.
• W30375830 cites W2141354154 @default.
• W30375830 cites W2144272122 @default.
• W30375830 cites W2153003103 @default.
• W30375830 cites W91753092 @default.
• W30375830 cites W2409744266 @default.
• W30375830 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2925905" @default.
• W30375830 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20806078" @default.
• W30375830 hasPublicationYear "2010" @default.
• W30375830 type Work @default.
• W30375830 sameAs 30375830 @default.
• W30375830 citedByCount "23" @default.
• W30375830 countsByYear W303758302012 @default.
• W30375830 countsByYear W303758302013 @default.
• W30375830 countsByYear W303758302014 @default.
• W30375830 countsByYear W303758302015 @default.
• W30375830 countsByYear W303758302016 @default.
• W30375830 countsByYear W303758302018 @default.
• W30375830 countsByYear W303758302019 @default.
• W30375830 countsByYear W303758302021 @default.
• W30375830 crossrefType "journal-article" @default.
• W30375830 hasAuthorship W30375830A5004096202 @default.
• W30375830 hasAuthorship W30375830A5005511136 @default.
• W30375830 hasAuthorship W30375830A5010735748 @default.
• W30375830 hasAuthorship W30375830A5014611355 @default.
• W30375830 hasAuthorship W30375830A5016715548 @default.
• W30375830 hasAuthorship W30375830A5046597133 @default.
• W30375830 hasAuthorship W30375830A5058822190 @default.
• W30375830 hasAuthorship W30375830A5068023836 @default.
• W30375830 hasAuthorship W30375830A5074235585 @default.
• W30375830 hasAuthorship W30375830A5078087543 @default.
• W30375830 hasAuthorship W30375830A5089399007 @default.
• W30375830 hasConcept C104317684 @default.
• W30375830 hasConcept C11413529 @default.
• W30375830 hasConcept C165525559 @default.
• W30375830 hasConcept C2777017193 @default.
• W30375830 hasConcept C30014739 @default.
• W30375830 hasConcept C41008148 @default.
• W30375830 hasConcept C501734568 @default.
• W30375830 hasConcept C54355233 @default.
• W30375830 hasConcept C86803240 @default.
• W30375830 hasConceptScore W30375830C104317684 @default.
• W30375830 hasConceptScore W30375830C11413529 @default.
• W30375830 hasConceptScore W30375830C165525559 @default.
• W30375830 hasConceptScore W30375830C2777017193 @default.
• W30375830 hasConceptScore W30375830C30014739 @default.
• W30375830 hasConceptScore W30375830C41008148 @default.
• W30375830 hasConceptScore W30375830C501734568 @default.
• W30375830 hasConceptScore W30375830C54355233 @default.
• W30375830 hasConceptScore W30375830C86803240 @default.
• W30375830 hasLocation W303758301 @default.
• W30375830 hasOpenAccess W30375830 @default.

• next