FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001455608> ?p ?o ?g. }

• W2001455608 endingPage "767" @default.
• W2001455608 startingPage "759" @default.
• W2001455608 abstract "Cartilage oligomeric matrix protein (COMP) is a large extracellular matrix protein expressed in cartilage, ligament and tendon. Mutations in the COMP gene cause two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and Multiple Epiphyseal Dysplasia (MED/EDM1). We report on a novel point mutation D511Y in the seventh calcium-binding repeat of the COMP gene and the resulting iliac crest growth plate pathology. The PSACH iliac crest growth plate is comprised of a large region of resting chondrocytes above a narrow region composed of clusters of disorganized proliferative and hypertrophic chondrocytes. Chondrocytes in all zones show massive intracellular retention of COMP and the surrounding extracellular matrix is deficient in COMP. Moreover, the 511Y COMP mutation selectively affects type IX collagen as little is found in the growth plate matrix whereas type II collagen and aggrecan are abundant in the matrix. Chondrocyte remnants are observed in the chondrocyte clusters and dead cells are found throughout the growth plate. Apoptosis studies demonstrate an unusual pattern of TUNEL staining in the PSACH chondrocytes compared to the control growth plate. These in vivo findings support our previous observation that retention of COMP leads to chondrocyte death. These results also add to the increasing evidence that PSACH and EDM1 are rER storage diseases and that impaired linear growth and joint erosion are caused by the disruptive effect of massive amounts of COMP within the chondrocytes. © 2004 Orthopaedic Research Society. Published by Elsevier Ltd. All rights reserved." @default.
• W2001455608 created "2016-06-24" @default.
• W2001455608 creator A5006806489 @default.
• W2001455608 creator A5020089514 @default.
• W2001455608 creator A5020855554 @default.
• W2001455608 creator A5025697896 @default.
• W2001455608 creator A5026949440 @default.
• W2001455608 creator A5030596121 @default.
• W2001455608 creator A5049264583 @default.
• W2001455608 creator A5088900128 @default.
• W2001455608 date "2004-07-01" @default.
• W2001455608 modified "2023-10-11" @default.
• W2001455608 title "Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate" @default.
• W2001455608 cites W1550768646 @default.
• W2001455608 cites W1605960013 @default.
• W2001455608 cites W1751400903 @default.
• W2001455608 cites W1964485007 @default.
• W2001455608 cites W1967366879 @default.
• W2001455608 cites W1969366516 @default.
• W2001455608 cites W1971319797 @default.
• W2001455608 cites W1978916864 @default.
• W2001455608 cites W1980312552 @default.
• W2001455608 cites W2005259839 @default.
• W2001455608 cites W2008311861 @default.
• W2001455608 cites W2020548763 @default.
• W2001455608 cites W2021048391 @default.
• W2001455608 cites W2042945854 @default.
• W2001455608 cites W2047932768 @default.
• W2001455608 cites W2048642192 @default.
• W2001455608 cites W2055428682 @default.
• W2001455608 cites W2075741661 @default.
• W2001455608 cites W2076449248 @default.
• W2001455608 cites W2080446840 @default.
• W2001455608 cites W2083507881 @default.
• W2001455608 cites W2090254532 @default.
• W2001455608 cites W2094687406 @default.
• W2001455608 cites W2108253100 @default.
• W2001455608 cites W2137855685 @default.
• W2001455608 cites W2139938769 @default.
• W2001455608 cites W2161508058 @default.
• W2001455608 cites W2168681970 @default.
• W2001455608 cites W2227853156 @default.
• W2001455608 cites W2924433095 @default.
• W2001455608 cites W4239464970 @default.
• W2001455608 cites W4301521751 @default.
• W2001455608 doi "https://doi.org/10.1016/j.orthres.2003.11.010" @default.
• W2001455608 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15183431" @default.
• W2001455608 hasPublicationYear "2004" @default.
• W2001455608 type Work @default.
• W2001455608 sameAs 2001455608 @default.
• W2001455608 citedByCount "78" @default.
• W2001455608 countsByYear W20014556082012 @default.
• W2001455608 countsByYear W20014556082013 @default.
• W2001455608 countsByYear W20014556082014 @default.
• W2001455608 countsByYear W20014556082015 @default.
• W2001455608 countsByYear W20014556082016 @default.
• W2001455608 countsByYear W20014556082017 @default.
• W2001455608 countsByYear W20014556082018 @default.
• W2001455608 countsByYear W20014556082019 @default.
• W2001455608 countsByYear W20014556082020 @default.
• W2001455608 countsByYear W20014556082022 @default.
• W2001455608 countsByYear W20014556082023 @default.
• W2001455608 crossrefType "journal-article" @default.
• W2001455608 hasAuthorship W2001455608A5006806489 @default.
• W2001455608 hasAuthorship W2001455608A5020089514 @default.
• W2001455608 hasAuthorship W2001455608A5020855554 @default.
• W2001455608 hasAuthorship W2001455608A5025697896 @default.
• W2001455608 hasAuthorship W2001455608A5026949440 @default.
• W2001455608 hasAuthorship W2001455608A5030596121 @default.
• W2001455608 hasAuthorship W2001455608A5049264583 @default.
• W2001455608 hasAuthorship W2001455608A5088900128 @default.
• W2001455608 hasBestOaLocation W20014556081 @default.
• W2001455608 hasConcept C105702510 @default.
• W2001455608 hasConcept C142724271 @default.
• W2001455608 hasConcept C17938293 @default.
• W2001455608 hasConcept C185592680 @default.
• W2001455608 hasConcept C189165786 @default.
• W2001455608 hasConcept C197534660 @default.
• W2001455608 hasConcept C204787440 @default.
• W2001455608 hasConcept C2776164576 @default.
• W2001455608 hasConcept C2778232976 @default.
• W2001455608 hasConcept C2780550940 @default.
• W2001455608 hasConcept C2780644872 @default.
• W2001455608 hasConcept C2781013607 @default.
• W2001455608 hasConcept C2781403057 @default.
• W2001455608 hasConcept C3020332539 @default.
• W2001455608 hasConcept C71924100 @default.
• W2001455608 hasConcept C86803240 @default.
• W2001455608 hasConcept C95444343 @default.
• W2001455608 hasConceptScore W2001455608C105702510 @default.
• W2001455608 hasConceptScore W2001455608C142724271 @default.
• W2001455608 hasConceptScore W2001455608C17938293 @default.
• W2001455608 hasConceptScore W2001455608C185592680 @default.
• W2001455608 hasConceptScore W2001455608C189165786 @default.
• W2001455608 hasConceptScore W2001455608C197534660 @default.
• W2001455608 hasConceptScore W2001455608C204787440 @default.
• W2001455608 hasConceptScore W2001455608C2776164576 @default.
• W2001455608 hasConceptScore W2001455608C2778232976 @default.

• next