Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079479079> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2079479079 abstract "Abstract A Quarter Horse gelding presented with pathology consistent with hereditary equine regional dermal asthenia (HERDA) but without the familial association typically present with this disease. Grossly, lesions exhibited either a firm, scar-like appearance or a potential space between the superficial and deep dermis. Both lesioned and non-lesioned skin showed evidence of edema and collagen fragmentation, whereas lesions were also characterized by hemorrhage and inflammation. Genetic testing was performed by three independent laboratories, each using different methods to detect the mutation described in the PPIB gene, previously shown to be associated with HERDA. No mutations in the PPIB gene were revealed by genetic testing, either at the known location of the point mutation or at any other location in the coding sequence. These findings are suggestive of a diagnosis of HERDA or hyperelastosis cutis in the absence of the well-described, putatively causative mutation in the PPIB gene. We propose that, whereas HERDA refers specifically to a familial disease caused by a mutation in the PPIB gene, similar symptoms may in fact be caused by a syndrome resulting from either inherited or spontaneous mutations in any of a number of collagen-processing genes. We conclude that Ehlers-Danlos syndrome be diagnosed in horses of any breed with HERDA-like pathology without the causative mutation." @default.
- W2079479079 created "2016-06-24" @default.
- W2079479079 creator A5010102816 @default.
- W2079479079 creator A5011057165 @default.
- W2079479079 creator A5011257121 @default.
- W2079479079 creator A5024138596 @default.
- W2079479079 creator A5024645553 @default.
- W2079479079 creator A5038741631 @default.
- W2079479079 creator A5047867470 @default.
- W2079479079 date "2014-04-01" @default.
- W2079479079 modified "2023-09-27" @default.
- W2079479079 title "Ehlers-Danlos Syndrome in a Quarter Horse Gelding: A Case Report of PPIB-Independent Hereditary Equine Regional Dermal Asthenia" @default.
- W2079479079 cites W1968293228 @default.
- W2079479079 cites W1980884932 @default.
- W2079479079 cites W1997947920 @default.
- W2079479079 cites W2051954886 @default.
- W2079479079 cites W2064462539 @default.
- W2079479079 cites W2070519789 @default.
- W2079479079 cites W2074619878 @default.
- W2079479079 cites W2117329250 @default.
- W2079479079 cites W2120860633 @default.
- W2079479079 cites W2142096756 @default.
- W2079479079 cites W2169418822 @default.
- W2079479079 cites W2555553294 @default.
- W2079479079 cites W2557136608 @default.
- W2079479079 cites W2066183657 @default.
- W2079479079 doi "https://doi.org/10.1016/j.jevs.2013.10.178" @default.
- W2079479079 hasPublicationYear "2014" @default.
- W2079479079 type Work @default.
- W2079479079 sameAs 2079479079 @default.
- W2079479079 citedByCount "5" @default.
- W2079479079 countsByYear W20794790792015 @default.
- W2079479079 countsByYear W20794790792017 @default.
- W2079479079 countsByYear W20794790792020 @default.
- W2079479079 crossrefType "journal-article" @default.
- W2079479079 hasAuthorship W2079479079A5010102816 @default.
- W2079479079 hasAuthorship W2079479079A5011057165 @default.
- W2079479079 hasAuthorship W2079479079A5011257121 @default.
- W2079479079 hasAuthorship W2079479079A5024138596 @default.
- W2079479079 hasAuthorship W2079479079A5024645553 @default.
- W2079479079 hasAuthorship W2079479079A5038741631 @default.
- W2079479079 hasAuthorship W2079479079A5047867470 @default.
- W2079479079 hasConcept C142724271 @default.
- W2079479079 hasConcept C2777624698 @default.
- W2079479079 hasConcept C2779134260 @default.
- W2079479079 hasConcept C54355233 @default.
- W2079479079 hasConcept C71924100 @default.
- W2079479079 hasConcept C86803240 @default.
- W2079479079 hasConceptScore W2079479079C142724271 @default.
- W2079479079 hasConceptScore W2079479079C2777624698 @default.
- W2079479079 hasConceptScore W2079479079C2779134260 @default.
- W2079479079 hasConceptScore W2079479079C54355233 @default.
- W2079479079 hasConceptScore W2079479079C71924100 @default.
- W2079479079 hasConceptScore W2079479079C86803240 @default.
- W2079479079 hasFunder F4320306114 @default.
- W2079479079 hasLocation W20794790791 @default.
- W2079479079 hasOpenAccess W2079479079 @default.
- W2079479079 hasPrimaryLocation W20794790791 @default.
- W2079479079 hasRelatedWork W1527912202 @default.
- W2079479079 hasRelatedWork W1891450591 @default.
- W2079479079 hasRelatedWork W1970576795 @default.
- W2079479079 hasRelatedWork W2041857716 @default.
- W2079479079 hasRelatedWork W2047364414 @default.
- W2079479079 hasRelatedWork W2084054717 @default.
- W2079479079 hasRelatedWork W2130598979 @default.
- W2079479079 hasRelatedWork W2240618145 @default.
- W2079479079 hasRelatedWork W2243368514 @default.
- W2079479079 hasRelatedWork W2480742344 @default.
- W2079479079 hasRelatedWork W2591616257 @default.
- W2079479079 hasRelatedWork W2737492124 @default.
- W2079479079 hasRelatedWork W2959923918 @default.
- W2079479079 hasRelatedWork W3031863950 @default.
- W2079479079 hasRelatedWork W3097944973 @default.
- W2079479079 hasRelatedWork W3100145231 @default.
- W2079479079 hasRelatedWork W3130157812 @default.
- W2079479079 hasRelatedWork W3133972267 @default.
- W2079479079 hasRelatedWork W3185685873 @default.
- W2079479079 hasRelatedWork W2338289051 @default.
- W2079479079 isParatext "false" @default.
- W2079479079 isRetracted "false" @default.
- W2079479079 magId "2079479079" @default.
- W2079479079 workType "article" @default.