FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065787130> ?p ?o ?g. }

• W2065787130 endingPage "2280" @default.
• W2065787130 startingPage "2275" @default.
• W2065787130 abstract "Approximately 2% of Caucasians and African-Americans are homozygous for a nonsense mutation in exon 2 of the AMPD1 (AMP deaminase) gene. These individuals have a high grade deficiency of AMPD activity in their skeletal muscle. More than 100 patients with AMPD1 deficiency have been reported to have symptoms of a metabolic myopathy, but it is apparent many individuals with this inherited defect are asymptomatic given the prevalence of this mutant. Results of the present study provide a potential molecular explanation for correction of this genetic defect. Alternative splicing eliminates exon 2 in 0.6-2% of AMPD1 mRNA transcripts in adult skeletal muscle. Expression studies document that AMPD1 mRNA, which has exon 2 deleted, encodes a functional AMPD peptide. A much higher percentage of alternatively spliced transcripts are found during differentiation of human myocytes in vitro. Transfection studies with human minigene constructs demonstrate that alternative splicing of the primary transcript of human AMPD1 is controlled by tissue-specific and stage-specific signals. Alternative splicing of exon 2 in individuals who have inherited this defect provides a mechanism for phenotypic rescue and variations in splicing patterns may contribute to the variability in clinical symptoms." @default.
• W2065787130 created "2016-06-24" @default.
• W2065787130 creator A5026352009 @default.
• W2065787130 creator A5041446600 @default.
• W2065787130 creator A5065481074 @default.
• W2065787130 creator A5066782777 @default.
• W2065787130 date "1993-05-01" @default.
• W2065787130 modified "2023-09-25" @default.
• W2065787130 title "Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect." @default.
• W2065787130 cites W1522175398 @default.
• W2065787130 cites W1579697362 @default.
• W2065787130 cites W1771949092 @default.
• W2065787130 cites W1810665495 @default.
• W2065787130 cites W1874975717 @default.
• W2065787130 cites W1971290197 @default.
• W2065787130 cites W1974508904 @default.
• W2065787130 cites W1994298313 @default.
• W2065787130 cites W1998441714 @default.
• W2065787130 cites W2016505381 @default.
• W2065787130 cites W2034209384 @default.
• W2065787130 cites W2037268137 @default.
• W2065787130 cites W2050717506 @default.
• W2065787130 cites W2061000940 @default.
• W2065787130 cites W2069673655 @default.
• W2065787130 cites W2077289804 @default.
• W2065787130 cites W2080719391 @default.
• W2065787130 cites W2089559330 @default.
• W2065787130 cites W2090448309 @default.
• W2065787130 cites W2103131757 @default.
• W2065787130 cites W2138270253 @default.
• W2065787130 cites W2214577495 @default.
• W2065787130 cites W2218971657 @default.
• W2065787130 cites W65082297 @default.
• W2065787130 cites W1983932582 @default.
• W2065787130 doi "https://doi.org/10.1172/jci116455" @default.
• W2065787130 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/288231" @default.
• W2065787130 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8486786" @default.
• W2065787130 hasPublicationYear "1993" @default.
• W2065787130 type Work @default.
• W2065787130 sameAs 2065787130 @default.
• W2065787130 citedByCount "69" @default.
• W2065787130 countsByYear W20657871302012 @default.
• W2065787130 countsByYear W20657871302013 @default.
• W2065787130 countsByYear W20657871302014 @default.
• W2065787130 countsByYear W20657871302015 @default.
• W2065787130 countsByYear W20657871302016 @default.
• W2065787130 countsByYear W20657871302018 @default.
• W2065787130 countsByYear W20657871302023 @default.
• W2065787130 crossrefType "journal-article" @default.
• W2065787130 hasAuthorship W2065787130A5026352009 @default.
• W2065787130 hasAuthorship W2065787130A5041446600 @default.
• W2065787130 hasAuthorship W2065787130A5065481074 @default.
• W2065787130 hasAuthorship W2065787130A5066782777 @default.
• W2065787130 hasBestOaLocation W20657871301 @default.
• W2065787130 hasConcept C104317684 @default.
• W2065787130 hasConcept C127716648 @default.
• W2065787130 hasConcept C134018914 @default.
• W2065787130 hasConcept C165912504 @default.
• W2065787130 hasConcept C166342232 @default.
• W2065787130 hasConcept C194583182 @default.
• W2065787130 hasConcept C2776991684 @default.
• W2065787130 hasConcept C34628245 @default.
• W2065787130 hasConcept C36823959 @default.
• W2065787130 hasConcept C501734568 @default.
• W2065787130 hasConcept C54355233 @default.
• W2065787130 hasConcept C54458228 @default.
• W2065787130 hasConcept C67705224 @default.
• W2065787130 hasConcept C75563809 @default.
• W2065787130 hasConcept C86803240 @default.
• W2065787130 hasConcept C96777560 @default.
• W2065787130 hasConceptScore W2065787130C104317684 @default.
• W2065787130 hasConceptScore W2065787130C127716648 @default.
• W2065787130 hasConceptScore W2065787130C134018914 @default.
• W2065787130 hasConceptScore W2065787130C165912504 @default.
• W2065787130 hasConceptScore W2065787130C166342232 @default.
• W2065787130 hasConceptScore W2065787130C194583182 @default.
• W2065787130 hasConceptScore W2065787130C2776991684 @default.
• W2065787130 hasConceptScore W2065787130C34628245 @default.
• W2065787130 hasConceptScore W2065787130C36823959 @default.
• W2065787130 hasConceptScore W2065787130C501734568 @default.
• W2065787130 hasConceptScore W2065787130C54355233 @default.
• W2065787130 hasConceptScore W2065787130C54458228 @default.
• W2065787130 hasConceptScore W2065787130C67705224 @default.
• W2065787130 hasConceptScore W2065787130C75563809 @default.
• W2065787130 hasConceptScore W2065787130C86803240 @default.
• W2065787130 hasConceptScore W2065787130C96777560 @default.
• W2065787130 hasIssue "5" @default.
• W2065787130 hasLocation W20657871301 @default.
• W2065787130 hasLocation W20657871302 @default.
• W2065787130 hasLocation W20657871303 @default.
• W2065787130 hasLocation W20657871304 @default.
• W2065787130 hasOpenAccess W2065787130 @default.
• W2065787130 hasPrimaryLocation W20657871301 @default.
• W2065787130 hasRelatedWork W1970503178 @default.
• W2065787130 hasRelatedWork W1989836398 @default.
• W2065787130 hasRelatedWork W1999181751 @default.
• W2065787130 hasRelatedWork W2004473210 @default.
• W2065787130 hasRelatedWork W2055450860 @default.

• next