FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2070908802> ?p ?o ?g. }

• W2070908802 endingPage "157" @default.
• W2070908802 startingPage "151" @default.
• W2070908802 abstract "The cardiac myosin-binding protein C (MyBP-C) is a sarcomeric protein belonging to the intracellular immunoglobulin superfamily; it has both structural and regulatory roles. The gene-encoding cardiac MyBP-C in humans is located on chromosome 11p11.2, comprises over 21,000 base pairs, and contains 35 exons. Mutations have been identified in this gene in unrelated families with familial hypertrophic cardiomyopathy. Familial hypertrophic cardiomyopathy is an autosomal dominant disease characterized by ventricular hypertrophy associated with a large degree of myocardial and myofibrillar disarray. Most mutations found in the cardiac MyBP-C gene thus far are predicted to lead to an altered mRNA sequence and to produce the C-terminal truncation of the cardiac MyBP-C polypeptides lacking the myosin-binding site and also, in some cases, the titin-binding site. One might reasonably assume that the cardiac MyBP-C mutations exert their effect by altering the multimeric complex assembly of the cardiac sarcomere via the “null allele” mechanism, potentially leading to haploinsufficiency, and/or via a dominant negative effect of a misfolded RNA on the cardiac MyBP-C translation, which could interfere with the proper assembly of sarcomeric structures. These data underline the functional importance of MyBP-C in the regulation of cardiac work and provide the basis for further studies and for the production of transgenic animals for cardiac MyBP-C that will, one hopes, help to resolve the pathogenesis of chromosome-11-associated familial hypertrophic cardiomyopathy." @default.
• W2070908802 created "2016-06-24" @default.
• W2070908802 creator A5006618871 @default.
• W2070908802 creator A5031640092 @default.
• W2070908802 creator A5043563400 @default.
• W2070908802 date "1998-05-01" @default.
• W2070908802 modified "2023-10-18" @default.
• W2070908802 title "Cardiac Myosin-Binding Protein C and Hypertrophic Cardiomyopathy" @default.
• W2070908802 cites W102016573 @default.
• W2070908802 cites W1233659682 @default.
• W2070908802 cites W1433990362 @default.
• W2070908802 cites W1502852420 @default.
• W2070908802 cites W1511283545 @default.
• W2070908802 cites W1525229360 @default.
• W2070908802 cites W1561692129 @default.
• W2070908802 cites W1851660529 @default.
• W2070908802 cites W1860649637 @default.
• W2070908802 cites W1953411904 @default.
• W2070908802 cites W1954096690 @default.
• W2070908802 cites W1966368724 @default.
• W2070908802 cites W1969403795 @default.
• W2070908802 cites W1970307430 @default.
• W2070908802 cites W1977244619 @default.
• W2070908802 cites W1988373211 @default.
• W2070908802 cites W1993123294 @default.
• W2070908802 cites W1993333724 @default.
• W2070908802 cites W2000676318 @default.
• W2070908802 cites W2004767153 @default.
• W2070908802 cites W2006016403 @default.
• W2070908802 cites W2024321813 @default.
• W2070908802 cites W2026161101 @default.
• W2070908802 cites W2034972644 @default.
• W2070908802 cites W2035171816 @default.
• W2070908802 cites W2046215161 @default.
• W2070908802 cites W2052797600 @default.
• W2070908802 cites W2055883955 @default.
• W2070908802 cites W2068684414 @default.
• W2070908802 cites W2070163453 @default.
• W2070908802 cites W2072393541 @default.
• W2070908802 cites W2073101965 @default.
• W2070908802 cites W2079482882 @default.
• W2070908802 cites W2084087656 @default.
• W2070908802 cites W2084211154 @default.
• W2070908802 cites W2087806880 @default.
• W2070908802 cites W2088171988 @default.
• W2070908802 cites W2095311098 @default.
• W2070908802 cites W2106933177 @default.
• W2070908802 cites W2117015966 @default.
• W2070908802 cites W2135749021 @default.
• W2070908802 cites W2140233227 @default.
• W2070908802 cites W2142578226 @default.
• W2070908802 cites W2147507278 @default.
• W2070908802 cites W2149422196 @default.
• W2070908802 cites W2152099568 @default.
• W2070908802 cites W2166639588 @default.
• W2070908802 cites W2418188068 @default.
• W2070908802 cites W259174617 @default.
• W2070908802 cites W32746739 @default.
• W2070908802 doi "https://doi.org/10.1016/s1050-1738(97)00144-8" @default.
• W2070908802 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21235926" @default.
• W2070908802 hasPublicationYear "1998" @default.
• W2070908802 type Work @default.
• W2070908802 sameAs 2070908802 @default.
• W2070908802 citedByCount "13" @default.
• W2070908802 countsByYear W20709088022014 @default.
• W2070908802 countsByYear W20709088022015 @default.
• W2070908802 countsByYear W20709088022020 @default.
• W2070908802 countsByYear W20709088022021 @default.
• W2070908802 crossrefType "journal-article" @default.
• W2070908802 hasAuthorship W2070908802A5006618871 @default.
• W2070908802 hasAuthorship W2070908802A5031640092 @default.
• W2070908802 hasAuthorship W2070908802A5043563400 @default.
• W2070908802 hasConcept C104317684 @default.
• W2070908802 hasConcept C126322002 @default.
• W2070908802 hasConcept C207200792 @default.
• W2070908802 hasConcept C2780185194 @default.
• W2070908802 hasConcept C53345823 @default.
• W2070908802 hasConcept C54355233 @default.
• W2070908802 hasConcept C55493867 @default.
• W2070908802 hasConcept C68731436 @default.
• W2070908802 hasConcept C71924100 @default.
• W2070908802 hasConcept C74581901 @default.
• W2070908802 hasConcept C83482732 @default.
• W2070908802 hasConcept C86803240 @default.
• W2070908802 hasConcept C90671521 @default.
• W2070908802 hasConcept C95444343 @default.
• W2070908802 hasConceptScore W2070908802C104317684 @default.
• W2070908802 hasConceptScore W2070908802C126322002 @default.
• W2070908802 hasConceptScore W2070908802C207200792 @default.
• W2070908802 hasConceptScore W2070908802C2780185194 @default.
• W2070908802 hasConceptScore W2070908802C53345823 @default.
• W2070908802 hasConceptScore W2070908802C54355233 @default.
• W2070908802 hasConceptScore W2070908802C55493867 @default.
• W2070908802 hasConceptScore W2070908802C68731436 @default.
• W2070908802 hasConceptScore W2070908802C71924100 @default.
• W2070908802 hasConceptScore W2070908802C74581901 @default.
• W2070908802 hasConceptScore W2070908802C83482732 @default.
• W2070908802 hasConceptScore W2070908802C86803240 @default.

• next