FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2069969241> ?p ?o ?g. }

• W2069969241 endingPage "986" @default.
• W2069969241 startingPage "981" @default.
• W2069969241 abstract "This study was initiated to identify the disease-causing genetic defect in a family with hypertrophic cardiomyopathy (HCM) and high incidence of sudden death.Familial hypertropic cardiomyopathy (FHC) is an autosomal dominant transmitted disorder that is genetically and clinically heterogeneous. Mutations in 11 genes have been associated with the pathogenesis of the disease.We studied a large FHC family, first by linkage analysis, to identify the gene involved, and subsequently screened the gene, encoding alpha-tropomyosin (TPM1), for mutations by using single-strand conformation polymorphism and sequencing analysis.Twelve family members presented clinical features of HCM, five of whom died at young age, while others had only mild clinical features. Marker analysis showed linkage for the TPM1 gene on chromosome 15q22 (maximal logarithm of the odds score is 5.16, theta = 0); subsequently, a novel missense mutation (Glu62Gln) was identified.The novel mutation identified in TPM1 is associated with the clinical features of cardiac hypertrophy in all but one genetically affected member of this large family. The clinical data suggest a malignant phenotype at young age with a variable clinical manifestation and penetrance at older age. The Glu62Gln mutation is the sixth TPM1 mutation identified as the cause of FHC, indicating that mutations in this gene are very rare. This is the first reported amino acid substitution at the f-position within the coiled-coil structure of the tropomyosin protein." @default.
• W2069969241 created "2016-06-24" @default.
• W2069969241 creator A5029709992 @default.
• W2069969241 creator A5030138987 @default.
• W2069969241 creator A5035260537 @default.
• W2069969241 creator A5054409804 @default.
• W2069969241 creator A5081338491 @default.
• W2069969241 creator A5089158101 @default.
• W2069969241 creator A5019026369 @default.
• W2069969241 date "2003-03-01" @default.
• W2069969241 modified "2023-10-15" @default.
• W2069969241 title "Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy" @default.
• W2069969241 cites W1965042960 @default.
• W2069969241 cites W1965265115 @default.
• W2069969241 cites W1976947675 @default.
• W2069969241 cites W1995697852 @default.
• W2069969241 cites W2024321813 @default.
• W2069969241 cites W2032408008 @default.
• W2069969241 cites W2035322727 @default.
• W2069969241 cites W2038253226 @default.
• W2069969241 cites W2039090726 @default.
• W2069969241 cites W2057219749 @default.
• W2069969241 cites W2061302189 @default.
• W2069969241 cites W2063765567 @default.
• W2069969241 cites W2069759472 @default.
• W2069969241 cites W2080742266 @default.
• W2069969241 cites W2098290823 @default.
• W2069969241 cites W2107724201 @default.
• W2069969241 cites W2129794513 @default.
• W2069969241 cites W2147281864 @default.
• W2069969241 cites W2150764161 @default.
• W2069969241 cites W2162152953 @default.
• W2069969241 cites W2170784416 @default.
• W2069969241 cites W2324797060 @default.
• W2069969241 cites W4230496537 @default.
• W2069969241 cites W4299422046 @default.
• W2069969241 doi "https://doi.org/10.1016/s0735-1097(02)03005-x" @default.
• W2069969241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12651045" @default.
• W2069969241 hasPublicationYear "2003" @default.
• W2069969241 type Work @default.
• W2069969241 sameAs 2069969241 @default.
• W2069969241 citedByCount "53" @default.
• W2069969241 countsByYear W20699692412012 @default.
• W2069969241 countsByYear W20699692412013 @default.
• W2069969241 countsByYear W20699692412014 @default.
• W2069969241 countsByYear W20699692412015 @default.
• W2069969241 countsByYear W20699692412016 @default.
• W2069969241 countsByYear W20699692412018 @default.
• W2069969241 countsByYear W20699692412020 @default.
• W2069969241 countsByYear W20699692412021 @default.
• W2069969241 countsByYear W20699692412022 @default.
• W2069969241 countsByYear W20699692412023 @default.
• W2069969241 crossrefType "journal-article" @default.
• W2069969241 hasAuthorship W2069969241A5019026369 @default.
• W2069969241 hasAuthorship W2069969241A5029709992 @default.
• W2069969241 hasAuthorship W2069969241A5030138987 @default.
• W2069969241 hasAuthorship W2069969241A5035260537 @default.
• W2069969241 hasAuthorship W2069969241A5054409804 @default.
• W2069969241 hasAuthorship W2069969241A5081338491 @default.
• W2069969241 hasAuthorship W2069969241A5089158101 @default.
• W2069969241 hasConcept C104317684 @default.
• W2069969241 hasConcept C125705527 @default.
• W2069969241 hasConcept C126322002 @default.
• W2069969241 hasConcept C127716648 @default.
• W2069969241 hasConcept C142870003 @default.
• W2069969241 hasConcept C200544954 @default.
• W2069969241 hasConcept C205875245 @default.
• W2069969241 hasConcept C2778198053 @default.
• W2069969241 hasConcept C2778797674 @default.
• W2069969241 hasConcept C2780185194 @default.
• W2069969241 hasConcept C2993353509 @default.
• W2069969241 hasConcept C2994225774 @default.
• W2069969241 hasConcept C501734568 @default.
• W2069969241 hasConcept C54355233 @default.
• W2069969241 hasConcept C71924100 @default.
• W2069969241 hasConcept C75563809 @default.
• W2069969241 hasConcept C86803240 @default.
• W2069969241 hasConceptScore W2069969241C104317684 @default.
• W2069969241 hasConceptScore W2069969241C125705527 @default.
• W2069969241 hasConceptScore W2069969241C126322002 @default.
• W2069969241 hasConceptScore W2069969241C127716648 @default.
• W2069969241 hasConceptScore W2069969241C142870003 @default.
• W2069969241 hasConceptScore W2069969241C200544954 @default.
• W2069969241 hasConceptScore W2069969241C205875245 @default.
• W2069969241 hasConceptScore W2069969241C2778198053 @default.
• W2069969241 hasConceptScore W2069969241C2778797674 @default.
• W2069969241 hasConceptScore W2069969241C2780185194 @default.
• W2069969241 hasConceptScore W2069969241C2993353509 @default.
• W2069969241 hasConceptScore W2069969241C2994225774 @default.
• W2069969241 hasConceptScore W2069969241C501734568 @default.
• W2069969241 hasConceptScore W2069969241C54355233 @default.
• W2069969241 hasConceptScore W2069969241C71924100 @default.
• W2069969241 hasConceptScore W2069969241C75563809 @default.
• W2069969241 hasConceptScore W2069969241C86803240 @default.
• W2069969241 hasIssue "6" @default.
• W2069969241 hasLocation W20699692411 @default.
• W2069969241 hasLocation W20699692412 @default.
• W2069969241 hasOpenAccess W2069969241 @default.

• next