FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2275320932> ?p ?o ?g. }

• W2275320932 endingPage "57" @default.
• W2275320932 startingPage "53" @default.
• W2275320932 abstract "Fundamental diseases is a term introduced by the charity Findacure to describe rare genetic disorders that are gateways to understanding common conditions and human physiology. The concept that rare diseases have important lessons for biomedical science has been recognised by some of the great figures in the history of medical research, including Harvey, Bateson and Garrod. Here we describe some of the recently discovered lessons from the study of the iconic genetic disease alkaptonuria (AKU), which have shed new light on understanding the pathogenesis of osteoarthritis. In AKU, ochronotic pigment is deposited in cartilage when collagen fibrils become susceptible to attack by homogentisic acid (HGA). When HGA binds to collagen, cartilage matrix becomes stiffened, resulting in the aberrant transmission of loading to underlying subchondral bone. Aberrant loading leads to the formation of pathophysiological structures including trabecular excrescences and high density mineralised protrusions (HDMPs). These structures initially identified in AKU have subsequently been found in more common osteoarthritis and appear to play a role in joint destruction in both diseases." @default.
• W2275320932 created "2016-06-24" @default.
• W2275320932 creator A5007006363 @default.
• W2275320932 creator A5028891760 @default.
• W2275320932 creator A5038647485 @default.
• W2275320932 creator A5065855762 @default.
• W2275320932 creator A5072763553 @default.
• W2275320932 date "2016-04-01" @default.
• W2275320932 modified "2023-10-05" @default.
• W2275320932 title "Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders" @default.
• W2275320932 cites W111154145 @default.
• W2275320932 cites W1512701088 @default.
• W2275320932 cites W1518451493 @default.
• W2275320932 cites W1544772519 @default.
• W2275320932 cites W1609797360 @default.
• W2275320932 cites W1965714617 @default.
• W2275320932 cites W1966527137 @default.
• W2275320932 cites W2004760264 @default.
• W2275320932 cites W2004810815 @default.
• W2275320932 cites W2010609454 @default.
• W2275320932 cites W2033454869 @default.
• W2275320932 cites W2064682336 @default.
• W2275320932 cites W2087984805 @default.
• W2275320932 cites W2109945528 @default.
• W2275320932 cites W2114449028 @default.
• W2275320932 cites W2125577448 @default.
• W2275320932 cites W2133768386 @default.
• W2275320932 cites W2137332946 @default.
• W2275320932 cites W2149097296 @default.
• W2275320932 cites W2164168718 @default.
• W2275320932 cites W2171340787 @default.
• W2275320932 cites W231324894 @default.
• W2275320932 doi "https://doi.org/10.1016/j.semcdb.2016.02.020" @default.
• W2275320932 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26891864" @default.
• W2275320932 hasPublicationYear "2016" @default.
• W2275320932 type Work @default.
• W2275320932 sameAs 2275320932 @default.
• W2275320932 citedByCount "30" @default.
• W2275320932 countsByYear W22753209322016 @default.
• W2275320932 countsByYear W22753209322017 @default.
• W2275320932 countsByYear W22753209322018 @default.
• W2275320932 countsByYear W22753209322019 @default.
• W2275320932 countsByYear W22753209322020 @default.
• W2275320932 countsByYear W22753209322021 @default.
• W2275320932 countsByYear W22753209322022 @default.
• W2275320932 countsByYear W22753209322023 @default.
• W2275320932 crossrefType "journal-article" @default.
• W2275320932 hasAuthorship W2275320932A5007006363 @default.
• W2275320932 hasAuthorship W2275320932A5028891760 @default.
• W2275320932 hasAuthorship W2275320932A5038647485 @default.
• W2275320932 hasAuthorship W2275320932A5065855762 @default.
• W2275320932 hasAuthorship W2275320932A5072763553 @default.
• W2275320932 hasConcept C105702510 @default.
• W2275320932 hasConcept C142724271 @default.
• W2275320932 hasConcept C203014093 @default.
• W2275320932 hasConcept C204787440 @default.
• W2275320932 hasConcept C2776164576 @default.
• W2275320932 hasConcept C2776255415 @default.
• W2275320932 hasConcept C2776743390 @default.
• W2275320932 hasConcept C2777169657 @default.
• W2275320932 hasConcept C2779134260 @default.
• W2275320932 hasConcept C2780550940 @default.
• W2275320932 hasConcept C2780942790 @default.
• W2275320932 hasConcept C54355233 @default.
• W2275320932 hasConcept C55493867 @default.
• W2275320932 hasConcept C71924100 @default.
• W2275320932 hasConcept C86803240 @default.
• W2275320932 hasConceptScore W2275320932C105702510 @default.
• W2275320932 hasConceptScore W2275320932C142724271 @default.
• W2275320932 hasConceptScore W2275320932C203014093 @default.
• W2275320932 hasConceptScore W2275320932C204787440 @default.
• W2275320932 hasConceptScore W2275320932C2776164576 @default.
• W2275320932 hasConceptScore W2275320932C2776255415 @default.
• W2275320932 hasConceptScore W2275320932C2776743390 @default.
• W2275320932 hasConceptScore W2275320932C2777169657 @default.
• W2275320932 hasConceptScore W2275320932C2779134260 @default.
• W2275320932 hasConceptScore W2275320932C2780550940 @default.
• W2275320932 hasConceptScore W2275320932C2780942790 @default.
• W2275320932 hasConceptScore W2275320932C54355233 @default.
• W2275320932 hasConceptScore W2275320932C55493867 @default.
• W2275320932 hasConceptScore W2275320932C71924100 @default.
• W2275320932 hasConceptScore W2275320932C86803240 @default.
• W2275320932 hasLocation W22753209321 @default.
• W2275320932 hasLocation W22753209322 @default.
• W2275320932 hasOpenAccess W2275320932 @default.
• W2275320932 hasPrimaryLocation W22753209321 @default.
• W2275320932 hasRelatedWork W2064682336 @default.
• W2275320932 hasRelatedWork W2317378045 @default.
• W2275320932 hasRelatedWork W2417148361 @default.
• W2275320932 hasRelatedWork W2528011026 @default.
• W2275320932 hasRelatedWork W2895981083 @default.
• W2275320932 hasRelatedWork W3134522603 @default.
• W2275320932 hasRelatedWork W4230784789 @default.
• W2275320932 hasRelatedWork W4235752490 @default.
• W2275320932 hasRelatedWork W4256036905 @default.
• W2275320932 hasRelatedWork W2556844306 @default.
• W2275320932 hasVolume "52" @default.
• W2275320932 isParatext "false" @default.

• next