FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2889364038> ?p ?o ?g. }

• W2889364038 endingPage "63" @default.
• W2889364038 startingPage "59" @default.
• W2889364038 abstract "BackgroundMutations in MYBPC3 are the most common cause of hypertrophic cardiomyopathy (HCM). These mutations produce dysfunctional protein that is quickly degraded and not incorporated in the myofilaments. Most patients are heterozygous and allelic expression differs between cells. We hypothesized that this would lead to cell-to-cell variation in cardiac myosin binding protein-C (cMyBP-C, encoded by MYBPC3 gene) protein levels.MethodsTwelve HCM patients were included (six had no sarcomere mutations (HCMsmn) and served as the control group and six harbored mutations in the MYBPC3 gene (MYBPC3mut). Western blot and RNA sequencing analysis of cardiac tissue lysates were performed to detect overall cMyBP-C protein and mRNA levels. Cellular expression of cMyBP-C and α-actin was obtained by immunofluorescence staining. Quantification of cell-to-cell variation of cMyBP-C expression between cardiomyocytes was measured by determining the ratio of cMyBP-C:α-actin stained area of each cell.ResultsProtein and mRNA analysis revealed significantly reduced cMyBP-C levels in MYBPC3mut patients compared with HCMsmn patients (0.73 ± 0.09 vs. 1.0 ± 0.15, p < .05; 162.3 ± 16.4 vs. 326.2 ± 41.9 RPKM, p = .002), without any sign of truncated proteins. Immunofluorescence staining of individual cardiomyocytes in HCMsmn patients demonstrated homogenous and equal cMyBP-C:α-actin staining ratio. In contrast, MYBPC3mut patients demonstrated inhomogeneous staining patterns with a large intercellular variability per patient. Coefficient of variance for cMyBP-C/α-actin staining for each patient showed a significant difference between both groups (17.30 ± 4.08 vs. 5.18 ± 0.65% in MYBPC3mut vs. HCMsmn, p = .02).ConclusionThis is the first study to demonstrate intercellular variation of myofilament cMyBP-C protein expression within the myocardium from HCM patients with heterozygous MYBPC3 mutations." @default.
• W2889364038 created "2018-09-07" @default.
• W2889364038 creator A5001356794 @default.
• W2889364038 creator A5008468085 @default.
• W2889364038 creator A5016225435 @default.
• W2889364038 creator A5039782389 @default.
• W2889364038 creator A5042924332 @default.
• W2889364038 creator A5055882699 @default.
• W2889364038 creator A5061049981 @default.
• W2889364038 creator A5085985111 @default.
• W2889364038 creator A5088103668 @default.
• W2889364038 creator A5091347263 @default.
• W2889364038 date "2018-10-01" @default.
• W2889364038 modified "2023-10-13" @default.
• W2889364038 title "Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy" @default.
• W2889364038 cites W1976714996 @default.
• W2889364038 cites W1987736934 @default.
• W2889364038 cites W1993333724 @default.
• W2889364038 cites W2001138841 @default.
• W2889364038 cites W2005609804 @default.
• W2889364038 cites W2023887100 @default.
• W2889364038 cites W2027871457 @default.
• W2889364038 cites W2121229923 @default.
• W2889364038 cites W2127423627 @default.
• W2889364038 cites W2129357784 @default.
• W2889364038 cites W2129992226 @default.
• W2889364038 cites W2151433089 @default.
• W2889364038 cites W2167377194 @default.
• W2889364038 cites W2332903153 @default.
• W2889364038 cites W2339652507 @default.
• W2889364038 cites W2531535687 @default.
• W2889364038 cites W2792899745 @default.
• W2889364038 cites W2806513202 @default.
• W2889364038 doi "https://doi.org/10.1016/j.yjmcc.2018.08.023" @default.
• W2889364038 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30170119" @default.
• W2889364038 hasPublicationYear "2018" @default.
• W2889364038 type Work @default.
• W2889364038 sameAs 2889364038 @default.
• W2889364038 citedByCount "20" @default.
• W2889364038 countsByYear W28893640382019 @default.
• W2889364038 countsByYear W28893640382020 @default.
• W2889364038 countsByYear W28893640382021 @default.
• W2889364038 countsByYear W28893640382022 @default.
• W2889364038 countsByYear W28893640382023 @default.
• W2889364038 crossrefType "journal-article" @default.
• W2889364038 hasAuthorship W2889364038A5001356794 @default.
• W2889364038 hasAuthorship W2889364038A5008468085 @default.
• W2889364038 hasAuthorship W2889364038A5016225435 @default.
• W2889364038 hasAuthorship W2889364038A5039782389 @default.
• W2889364038 hasAuthorship W2889364038A5042924332 @default.
• W2889364038 hasAuthorship W2889364038A5055882699 @default.
• W2889364038 hasAuthorship W2889364038A5061049981 @default.
• W2889364038 hasAuthorship W2889364038A5085985111 @default.
• W2889364038 hasAuthorship W2889364038A5088103668 @default.
• W2889364038 hasAuthorship W2889364038A5091347263 @default.
• W2889364038 hasBestOaLocation W28893640381 @default.
• W2889364038 hasConcept C104317684 @default.
• W2889364038 hasConcept C105580179 @default.
• W2889364038 hasConcept C125705527 @default.
• W2889364038 hasConcept C153911025 @default.
• W2889364038 hasConcept C159654299 @default.
• W2889364038 hasConcept C174054327 @default.
• W2889364038 hasConcept C207200792 @default.
• W2889364038 hasConcept C2776415932 @default.
• W2889364038 hasConcept C2778236600 @default.
• W2889364038 hasConcept C2780185194 @default.
• W2889364038 hasConcept C54355233 @default.
• W2889364038 hasConcept C55493867 @default.
• W2889364038 hasConcept C68731436 @default.
• W2889364038 hasConcept C74864618 @default.
• W2889364038 hasConcept C86803240 @default.
• W2889364038 hasConcept C95444343 @default.
• W2889364038 hasConceptScore W2889364038C104317684 @default.
• W2889364038 hasConceptScore W2889364038C105580179 @default.
• W2889364038 hasConceptScore W2889364038C125705527 @default.
• W2889364038 hasConceptScore W2889364038C153911025 @default.
• W2889364038 hasConceptScore W2889364038C159654299 @default.
• W2889364038 hasConceptScore W2889364038C174054327 @default.
• W2889364038 hasConceptScore W2889364038C207200792 @default.
• W2889364038 hasConceptScore W2889364038C2776415932 @default.
• W2889364038 hasConceptScore W2889364038C2778236600 @default.
• W2889364038 hasConceptScore W2889364038C2780185194 @default.
• W2889364038 hasConceptScore W2889364038C54355233 @default.
• W2889364038 hasConceptScore W2889364038C55493867 @default.
• W2889364038 hasConceptScore W2889364038C68731436 @default.
• W2889364038 hasConceptScore W2889364038C74864618 @default.
• W2889364038 hasConceptScore W2889364038C86803240 @default.
• W2889364038 hasConceptScore W2889364038C95444343 @default.
• W2889364038 hasFunder F4320321642 @default.
• W2889364038 hasLocation W28893640381 @default.
• W2889364038 hasLocation W28893640382 @default.
• W2889364038 hasLocation W28893640383 @default.
• W2889364038 hasLocation W28893640384 @default.
• W2889364038 hasLocation W28893640385 @default.
• W2889364038 hasLocation W28893640386 @default.
• W2889364038 hasLocation W28893640387 @default.
• W2889364038 hasLocation W28893640388 @default.
• W2889364038 hasOpenAccess W2889364038 @default.

• next