Matches in SemOpenAlex for { <https://semopenalex.org/work/W1983530417> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W1983530417 endingPage "421" @default.
- W1983530417 startingPage "419" @default.
- W1983530417 abstract "Isolated cytochrome c oxidase (COX) deficiency (MIM#220110) is a relatively common biochemical finding in pediatric patients with mitochondrial disorder. It has been associated with different clinical phenotypes ranging from isolated myopathy to severe multisystem disorder. It is a genetically heterogeneous trait, and the most frequent genetic defects affect SURF1 and SCO2, two genes required for COX assembly. However, a significant proportion of patients lacks mutation in these genes and in other known genes that require COX biogenesis. COX18 is a novel COX assembly gene required for membrane insertion of the C-terminal portion of COX subunit II. We have studied 29 pediatric patients with isolated COX deficiency in the skeletal muscle associated with different clinical phenotypes. Mutations in SURF1, SCO2, SCO1, COX10, COX15 and in mitochondrial DNA, had been ruled out earlier. The COX18 gene was analyzed using a PCR-single-stranded conformation polymorphism (PCR-SSCP) protocol, and in 15 patients, the analysis was repeated by direct sequencing. No pathogenic mutations were detected in our cohort of patients indicating that COX18 mutations may be very rare or associated with other phenotypes than isolated COX deficiency in infancy." @default.
- W1983530417 created "2016-06-24" @default.
- W1983530417 creator A5016552354 @default.
- W1983530417 creator A5068521533 @default.
- W1983530417 creator A5084985417 @default.
- W1983530417 date "2009-04-17" @default.
- W1983530417 modified "2023-10-14" @default.
- W1983530417 title "Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency" @default.
- W1983530417 cites W1481324524 @default.
- W1983530417 cites W1972343164 @default.
- W1983530417 cites W1977444267 @default.
- W1983530417 cites W1988511928 @default.
- W1983530417 cites W1995000105 @default.
- W1983530417 cites W2006754739 @default.
- W1983530417 cites W2019011355 @default.
- W1983530417 cites W2025618361 @default.
- W1983530417 cites W2046749013 @default.
- W1983530417 cites W2075693620 @default.
- W1983530417 cites W2120511867 @default.
- W1983530417 cites W2123634642 @default.
- W1983530417 cites W2136526151 @default.
- W1983530417 cites W2138772459 @default.
- W1983530417 cites W2151271025 @default.
- W1983530417 cites W2152298314 @default.
- W1983530417 cites W2170076251 @default.
- W1983530417 cites W2171628789 @default.
- W1983530417 cites W4212775706 @default.
- W1983530417 cites W4244647820 @default.
- W1983530417 doi "https://doi.org/10.1038/jhg.2009.36" @default.
- W1983530417 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19373256" @default.
- W1983530417 hasPublicationYear "2009" @default.
- W1983530417 type Work @default.
- W1983530417 sameAs 1983530417 @default.
- W1983530417 citedByCount "7" @default.
- W1983530417 countsByYear W19835304172016 @default.
- W1983530417 countsByYear W19835304172017 @default.
- W1983530417 countsByYear W19835304172018 @default.
- W1983530417 countsByYear W19835304172020 @default.
- W1983530417 countsByYear W19835304172023 @default.
- W1983530417 crossrefType "journal-article" @default.
- W1983530417 hasAuthorship W1983530417A5016552354 @default.
- W1983530417 hasAuthorship W1983530417A5068521533 @default.
- W1983530417 hasAuthorship W1983530417A5084985417 @default.
- W1983530417 hasBestOaLocation W19835304171 @default.
- W1983530417 hasConcept C104317684 @default.
- W1983530417 hasConcept C123249941 @default.
- W1983530417 hasConcept C127716648 @default.
- W1983530417 hasConcept C129219603 @default.
- W1983530417 hasConcept C153911025 @default.
- W1983530417 hasConcept C24586158 @default.
- W1983530417 hasConcept C28859421 @default.
- W1983530417 hasConcept C501734568 @default.
- W1983530417 hasConcept C54355233 @default.
- W1983530417 hasConcept C86803240 @default.
- W1983530417 hasConceptScore W1983530417C104317684 @default.
- W1983530417 hasConceptScore W1983530417C123249941 @default.
- W1983530417 hasConceptScore W1983530417C127716648 @default.
- W1983530417 hasConceptScore W1983530417C129219603 @default.
- W1983530417 hasConceptScore W1983530417C153911025 @default.
- W1983530417 hasConceptScore W1983530417C24586158 @default.
- W1983530417 hasConceptScore W1983530417C28859421 @default.
- W1983530417 hasConceptScore W1983530417C501734568 @default.
- W1983530417 hasConceptScore W1983530417C54355233 @default.
- W1983530417 hasConceptScore W1983530417C86803240 @default.
- W1983530417 hasIssue "7" @default.
- W1983530417 hasLocation W19835304171 @default.
- W1983530417 hasLocation W19835304172 @default.
- W1983530417 hasLocation W19835304173 @default.
- W1983530417 hasLocation W19835304174 @default.
- W1983530417 hasOpenAccess W1983530417 @default.
- W1983530417 hasPrimaryLocation W19835304171 @default.
- W1983530417 hasRelatedWork W1983857347 @default.
- W1983530417 hasRelatedWork W2023929520 @default.
- W1983530417 hasRelatedWork W2132993604 @default.
- W1983530417 hasRelatedWork W2143066563 @default.
- W1983530417 hasRelatedWork W2157166663 @default.
- W1983530417 hasRelatedWork W2253599539 @default.
- W1983530417 hasRelatedWork W2376017112 @default.
- W1983530417 hasRelatedWork W2439676648 @default.
- W1983530417 hasRelatedWork W3032357680 @default.
- W1983530417 hasRelatedWork W4281561929 @default.
- W1983530417 hasVolume "54" @default.
- W1983530417 isParatext "false" @default.
- W1983530417 isRetracted "false" @default.
- W1983530417 magId "1983530417" @default.
- W1983530417 workType "article" @default.