FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1977689612> ?p ?o ?g. }

• W1977689612 endingPage "e111941" @default.
• W1977689612 startingPage "e111941" @default.
• W1977689612 abstract "Primary glaucoma is one of the most common causes of irreversible blindness both in humans and in dogs. Glaucoma is an optic neuropathy affecting the retinal ganglion cells and optic nerve, and elevated intraocular pressure is commonly associated with the disease. Glaucoma is broadly classified into primary open angle (POAG), primary closed angle (PCAG) and primary congenital glaucoma (PCG). Human glaucomas are genetically heterogeneous and multiple loci have been identified. Glaucoma affects several dog breeds but only three loci and one gene have been implicated so far. We have investigated the genetics of primary glaucoma in the Norwegian Elkhound (NE). We established a small pedigree around the affected NEs collected from Finland, US and UK and performed a genome-wide association study with 9 cases and 8 controls to map the glaucoma gene to 750 kb region on canine chromosome 20 (praw = 4.93×10−6, pgenome = 0.025). The associated region contains a previously identified glaucoma gene, ADAMTS10, which was subjected to mutation screening in the coding regions. A fully segregating missense mutation (p.A387T) in exon 9 was found in 14 cases and 572 unaffected NEs (pFisher = 3.5×10−27) with a high carrier frequency (25.3%). The mutation interrupts a highly conserved residue in the metalloprotease domain of ADAMTS10, likely affecting its functional capacity. Our study identifies the genetic cause of primary glaucoma in NEs and enables the development of a genetic test for breeding purposes. This study establishes also a new spontaneous canine model for glaucoma research to study the ADAMTS10 biology in optical neuropathy." @default.
• W1977689612 created "2016-06-24" @default.
• W1977689612 creator A5011760436 @default.
• W1977689612 creator A5030984273 @default.
• W1977689612 creator A5050188477 @default.
• W1977689612 creator A5055337227 @default.
• W1977689612 creator A5074568922 @default.
• W1977689612 creator A5079721897 @default.
• W1977689612 date "2014-11-05" @default.
• W1977689612 modified "2023-09-30" @default.
• W1977689612 title "A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma" @default.
• W1977689612 cites W1856328802 @default.
• W1977689612 cites W1888665730 @default.
• W1977689612 cites W1971165796 @default.
• W1977689612 cites W1980101111 @default.
• W1977689612 cites W1983313606 @default.
• W1977689612 cites W1986496846 @default.
• W1977689612 cites W1989790196 @default.
• W1977689612 cites W1995610937 @default.
• W1977689612 cites W2001611290 @default.
• W1977689612 cites W2002821131 @default.
• W1977689612 cites W2005018538 @default.
• W1977689612 cites W2007058770 @default.
• W1977689612 cites W2007483996 @default.
• W1977689612 cites W2007502006 @default.
• W1977689612 cites W2017879166 @default.
• W1977689612 cites W2024661815 @default.
• W1977689612 cites W2025406121 @default.
• W1977689612 cites W2025448029 @default.
• W1977689612 cites W2030246164 @default.
• W1977689612 cites W2032124492 @default.
• W1977689612 cites W2035876629 @default.
• W1977689612 cites W2042583371 @default.
• W1977689612 cites W2051223495 @default.
• W1977689612 cites W2059145105 @default.
• W1977689612 cites W2061847367 @default.
• W1977689612 cites W2063806540 @default.
• W1977689612 cites W2066660239 @default.
• W1977689612 cites W2075547308 @default.
• W1977689612 cites W2090810024 @default.
• W1977689612 cites W2091531773 @default.
• W1977689612 cites W2100159037 @default.
• W1977689612 cites W2105342794 @default.
• W1977689612 cites W2117192416 @default.
• W1977689612 cites W2119314211 @default.
• W1977689612 cites W2119521263 @default.
• W1977689612 cites W2124334570 @default.
• W1977689612 cites W2141916112 @default.
• W1977689612 cites W2142049423 @default.
• W1977689612 cites W2144645229 @default.
• W1977689612 cites W2147781659 @default.
• W1977689612 cites W2150285802 @default.
• W1977689612 cites W2152359892 @default.
• W1977689612 cites W2154886355 @default.
• W1977689612 cites W2161620511 @default.
• W1977689612 cites W2164004777 @default.
• W1977689612 doi "https://doi.org/10.1371/journal.pone.0111941" @default.
• W1977689612 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4221187" @default.
• W1977689612 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25372548" @default.
• W1977689612 hasPublicationYear "2014" @default.
• W1977689612 type Work @default.
• W1977689612 sameAs 1977689612 @default.
• W1977689612 citedByCount "34" @default.
• W1977689612 countsByYear W19776896122015 @default.
• W1977689612 countsByYear W19776896122016 @default.
• W1977689612 countsByYear W19776896122017 @default.
• W1977689612 countsByYear W19776896122018 @default.
• W1977689612 countsByYear W19776896122019 @default.
• W1977689612 countsByYear W19776896122020 @default.
• W1977689612 countsByYear W19776896122021 @default.
• W1977689612 countsByYear W19776896122022 @default.
• W1977689612 countsByYear W19776896122023 @default.
• W1977689612 crossrefType "journal-article" @default.
• W1977689612 hasAuthorship W1977689612A5011760436 @default.
• W1977689612 hasAuthorship W1977689612A5030984273 @default.
• W1977689612 hasAuthorship W1977689612A5050188477 @default.
• W1977689612 hasAuthorship W1977689612A5055337227 @default.
• W1977689612 hasAuthorship W1977689612A5074568922 @default.
• W1977689612 hasAuthorship W1977689612A5079721897 @default.
• W1977689612 hasBestOaLocation W19776896121 @default.
• W1977689612 hasConcept C104317684 @default.
• W1977689612 hasConcept C118487528 @default.
• W1977689612 hasConcept C2778233873 @default.
• W1977689612 hasConcept C2778527774 @default.
• W1977689612 hasConcept C2780837183 @default.
• W1977689612 hasConcept C2781092963 @default.
• W1977689612 hasConcept C2781147369 @default.
• W1977689612 hasConcept C2991803831 @default.
• W1977689612 hasConcept C501734568 @default.
• W1977689612 hasConcept C54355233 @default.
• W1977689612 hasConcept C71924100 @default.
• W1977689612 hasConcept C75563809 @default.
• W1977689612 hasConcept C86803240 @default.
• W1977689612 hasConceptScore W1977689612C104317684 @default.
• W1977689612 hasConceptScore W1977689612C118487528 @default.
• W1977689612 hasConceptScore W1977689612C2778233873 @default.
• W1977689612 hasConceptScore W1977689612C2778527774 @default.
• W1977689612 hasConceptScore W1977689612C2780837183 @default.

• next