FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1521859206> ?p ?o ?g. }

• W1521859206 endingPage "e0138568" @default.
• W1521859206 startingPage "e0138568" @default.
• W1521859206 abstract "Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially disease-causing mutations in 58 HCM or DCM-related genes.We identified 5 potentially disease-causing OBSCN mutations in 4 samples; one sample had two OBSCN mutations and one mutation was judged to be not disease-related. Also identified were 6 truncating mutations in TTN, 3 mutations in MYH7, 2 in DSP and one each in TNNC1, TNNI3, MYOM1, VCL, GLA, PLB, TCAP, PKP2 and LAMA4. The mean level of obscurin mRNA was significantly greater and more variable in healthy donor samples than the DCM samples but did not correlate with OBSCN mutations. A single obscurin protein band was observed in human heart myofibrils with apparent mass 960 ± 60 kDa. The three samples with OBSCN mutations had significantly lower levels of obscurin immunoreactive material than DCM samples without OBSCN mutations (45±7, 48±3, and 72±6% of control level).Obscurin levels in DCM controls, donor heart and myectomy samples were the same.OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency. Mutations in the obscurin gene should be considered as a significant causal factor of DCM, alone or in concert with other mutations." @default.
• W1521859206 created "2016-06-24" @default.
• W1521859206 creator A5004233445 @default.
• W1521859206 creator A5007260892 @default.
• W1521859206 creator A5016305589 @default.
• W1521859206 creator A5054512664 @default.
• W1521859206 creator A5062353668 @default.
• W1521859206 creator A5063342493 @default.
• W1521859206 creator A5063837249 @default.
• W1521859206 creator A5075346303 @default.
• W1521859206 creator A5086482516 @default.
• W1521859206 date "2015-09-25" @default.
• W1521859206 modified "2023-10-14" @default.
• W1521859206 title "OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency" @default.
• W1521859206 cites W1971161141 @default.
• W1521859206 cites W1974554762 @default.
• W1521859206 cites W1978063892 @default.
• W1521859206 cites W1981237467 @default.
• W1521859206 cites W1984210239 @default.
• W1521859206 cites W1991507611 @default.
• W1521859206 cites W1992881039 @default.
• W1521859206 cites W1996121136 @default.
• W1521859206 cites W2055667304 @default.
• W1521859206 cites W2066541341 @default.
• W1521859206 cites W2086849785 @default.
• W1521859206 cites W2090352597 @default.
• W1521859206 cites W2105192488 @default.
• W1521859206 cites W2111975407 @default.
• W1521859206 cites W2116351152 @default.
• W1521859206 cites W2120618651 @default.
• W1521859206 cites W2121229923 @default.
• W1521859206 cites W2127774458 @default.
• W1521859206 cites W2138170368 @default.
• W1521859206 cites W2141706511 @default.
• W1521859206 cites W2160412700 @default.
• W1521859206 cites W2162634302 @default.
• W1521859206 cites W2167989424 @default.
• W1521859206 doi "https://doi.org/10.1371/journal.pone.0138568" @default.
• W1521859206 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4583186" @default.
• W1521859206 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26406308" @default.
• W1521859206 hasPublicationYear "2015" @default.
• W1521859206 type Work @default.
• W1521859206 sameAs 1521859206 @default.
• W1521859206 citedByCount "70" @default.
• W1521859206 countsByYear W15218592062016 @default.
• W1521859206 countsByYear W15218592062017 @default.
• W1521859206 countsByYear W15218592062018 @default.
• W1521859206 countsByYear W15218592062019 @default.
• W1521859206 countsByYear W15218592062020 @default.
• W1521859206 countsByYear W15218592062021 @default.
• W1521859206 countsByYear W15218592062022 @default.
• W1521859206 countsByYear W15218592062023 @default.
• W1521859206 crossrefType "journal-article" @default.
• W1521859206 hasAuthorship W1521859206A5004233445 @default.
• W1521859206 hasAuthorship W1521859206A5007260892 @default.
• W1521859206 hasAuthorship W1521859206A5016305589 @default.
• W1521859206 hasAuthorship W1521859206A5054512664 @default.
• W1521859206 hasAuthorship W1521859206A5062353668 @default.
• W1521859206 hasAuthorship W1521859206A5063342493 @default.
• W1521859206 hasAuthorship W1521859206A5063837249 @default.
• W1521859206 hasAuthorship W1521859206A5075346303 @default.
• W1521859206 hasAuthorship W1521859206A5086482516 @default.
• W1521859206 hasBestOaLocation W15218592061 @default.
• W1521859206 hasConcept C104317684 @default.
• W1521859206 hasConcept C126322002 @default.
• W1521859206 hasConcept C127716648 @default.
• W1521859206 hasConcept C134018914 @default.
• W1521859206 hasConcept C153911025 @default.
• W1521859206 hasConcept C207200792 @default.
• W1521859206 hasConcept C2776383484 @default.
• W1521859206 hasConcept C2778198053 @default.
• W1521859206 hasConcept C2778797674 @default.
• W1521859206 hasConcept C2780185194 @default.
• W1521859206 hasConcept C37140074 @default.
• W1521859206 hasConcept C501734568 @default.
• W1521859206 hasConcept C53345823 @default.
• W1521859206 hasConcept C54355233 @default.
• W1521859206 hasConcept C68731436 @default.
• W1521859206 hasConcept C68838962 @default.
• W1521859206 hasConcept C71924100 @default.
• W1521859206 hasConcept C74581901 @default.
• W1521859206 hasConcept C86803240 @default.
• W1521859206 hasConcept C90671521 @default.
• W1521859206 hasConceptScore W1521859206C104317684 @default.
• W1521859206 hasConceptScore W1521859206C126322002 @default.
• W1521859206 hasConceptScore W1521859206C127716648 @default.
• W1521859206 hasConceptScore W1521859206C134018914 @default.
• W1521859206 hasConceptScore W1521859206C153911025 @default.
• W1521859206 hasConceptScore W1521859206C207200792 @default.
• W1521859206 hasConceptScore W1521859206C2776383484 @default.
• W1521859206 hasConceptScore W1521859206C2778198053 @default.
• W1521859206 hasConceptScore W1521859206C2778797674 @default.
• W1521859206 hasConceptScore W1521859206C2780185194 @default.
• W1521859206 hasConceptScore W1521859206C37140074 @default.
• W1521859206 hasConceptScore W1521859206C501734568 @default.
• W1521859206 hasConceptScore W1521859206C53345823 @default.
• W1521859206 hasConceptScore W1521859206C54355233 @default.
• W1521859206 hasConceptScore W1521859206C68731436 @default.

• next