Matches in SemOpenAlex for { <https://semopenalex.org/work/W2098200345> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2098200345 endingPage "1282" @default.
- W2098200345 startingPage "1278" @default.
- W2098200345 abstract "Pseudoachondroplasia (PSACH) and autosomal dominant multiple epiphyseal dysplasia (MED) are chondrodysplasias resulting in short-limbed dwarfism, joint pain and stiffness and early onset osteoarthritis. All PSACH, and the largest proportion of MED, result from mutations in cartilage oligomeric matrix protein (COMP). The first mutations in COMP were identified in 1995 in patients with both PSACH and MED and subsequently there has been over 30 publications describing COMP mutations in at least 250 PSACH–MED patients. However, despite these discoveries, a methodical analysis of the relationship between COMP mutations and phenotypes has not been undertaken. In particular, there has, to date, been little correlation between the type and location of a COMP mutation and the resulting phenotype of PSACH or MED. To determine if genotype to phenotype correlations could be derived for COMP, we collated 300 COMP mutations, including 25 recently identified novel mutations. The results of this analysis demonstrate that mutations in specific residues and/or regions of the type III repeats of COMP are significantly associated with either PSACH or MED. This newly derived genotype to phenotype correlation may aid in determining the prognosis of PSACH and MED, including the prediction of disease severity, and in the long term guide genetic counselling and contribute to the clinical management of patients with these diseases." @default.
- W2098200345 created "2016-06-24" @default.
- W2098200345 creator A5056208952 @default.
- W2098200345 creator A5070917769 @default.
- W2098200345 creator A5072501597 @default.
- W2098200345 creator A5087432219 @default.
- W2098200345 date "2014-03-05" @default.
- W2098200345 modified "2023-10-11" @default.
- W2098200345 title "Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias" @default.
- W2098200345 cites W1971345463 @default.
- W2098200345 cites W2000489419 @default.
- W2098200345 cites W2005259839 @default.
- W2098200345 cites W2016690689 @default.
- W2098200345 cites W2023881097 @default.
- W2098200345 cites W2035120891 @default.
- W2098200345 cites W2036132570 @default.
- W2098200345 cites W2061987871 @default.
- W2098200345 cites W2066759027 @default.
- W2098200345 cites W2096552017 @default.
- W2098200345 cites W2150916029 @default.
- W2098200345 cites W2162543646 @default.
- W2098200345 cites W2165672021 @default.
- W2098200345 cites W2170341904 @default.
- W2098200345 doi "https://doi.org/10.1038/ejhg.2014.30" @default.
- W2098200345 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4051597" @default.
- W2098200345 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24595329" @default.
- W2098200345 hasPublicationYear "2014" @default.
- W2098200345 type Work @default.
- W2098200345 sameAs 2098200345 @default.
- W2098200345 citedByCount "40" @default.
- W2098200345 countsByYear W20982003452014 @default.
- W2098200345 countsByYear W20982003452015 @default.
- W2098200345 countsByYear W20982003452016 @default.
- W2098200345 countsByYear W20982003452017 @default.
- W2098200345 countsByYear W20982003452018 @default.
- W2098200345 countsByYear W20982003452019 @default.
- W2098200345 countsByYear W20982003452020 @default.
- W2098200345 countsByYear W20982003452021 @default.
- W2098200345 countsByYear W20982003452022 @default.
- W2098200345 countsByYear W20982003452023 @default.
- W2098200345 crossrefType "journal-article" @default.
- W2098200345 hasAuthorship W2098200345A5056208952 @default.
- W2098200345 hasAuthorship W2098200345A5070917769 @default.
- W2098200345 hasAuthorship W2098200345A5072501597 @default.
- W2098200345 hasAuthorship W2098200345A5087432219 @default.
- W2098200345 hasBestOaLocation W20982003451 @default.
- W2098200345 hasConcept C104317684 @default.
- W2098200345 hasConcept C127716648 @default.
- W2098200345 hasConcept C135763542 @default.
- W2098200345 hasConcept C142724271 @default.
- W2098200345 hasConcept C204787440 @default.
- W2098200345 hasConcept C2776164576 @default.
- W2098200345 hasConcept C2776260777 @default.
- W2098200345 hasConcept C2778232976 @default.
- W2098200345 hasConcept C501734568 @default.
- W2098200345 hasConcept C54355233 @default.
- W2098200345 hasConcept C71924100 @default.
- W2098200345 hasConcept C86803240 @default.
- W2098200345 hasConceptScore W2098200345C104317684 @default.
- W2098200345 hasConceptScore W2098200345C127716648 @default.
- W2098200345 hasConceptScore W2098200345C135763542 @default.
- W2098200345 hasConceptScore W2098200345C142724271 @default.
- W2098200345 hasConceptScore W2098200345C204787440 @default.
- W2098200345 hasConceptScore W2098200345C2776164576 @default.
- W2098200345 hasConceptScore W2098200345C2776260777 @default.
- W2098200345 hasConceptScore W2098200345C2778232976 @default.
- W2098200345 hasConceptScore W2098200345C501734568 @default.
- W2098200345 hasConceptScore W2098200345C54355233 @default.
- W2098200345 hasConceptScore W2098200345C71924100 @default.
- W2098200345 hasConceptScore W2098200345C86803240 @default.
- W2098200345 hasIssue "11" @default.
- W2098200345 hasLocation W20982003451 @default.
- W2098200345 hasLocation W20982003452 @default.
- W2098200345 hasLocation W20982003453 @default.
- W2098200345 hasLocation W20982003454 @default.
- W2098200345 hasLocation W20982003455 @default.
- W2098200345 hasOpenAccess W2098200345 @default.
- W2098200345 hasPrimaryLocation W20982003451 @default.
- W2098200345 hasRelatedWork W1600162900 @default.
- W2098200345 hasRelatedWork W1965697056 @default.
- W2098200345 hasRelatedWork W2013158704 @default.
- W2098200345 hasRelatedWork W2031464773 @default.
- W2098200345 hasRelatedWork W2057188689 @default.
- W2098200345 hasRelatedWork W2094445906 @default.
- W2098200345 hasRelatedWork W2100991315 @default.
- W2098200345 hasRelatedWork W2149447718 @default.
- W2098200345 hasRelatedWork W2394797755 @default.
- W2098200345 hasRelatedWork W2574921060 @default.
- W2098200345 hasVolume "22" @default.
- W2098200345 isParatext "false" @default.
- W2098200345 isRetracted "false" @default.
- W2098200345 magId "2098200345" @default.
- W2098200345 workType "article" @default.