FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045607044> ?p ?o ?g. }

• W2045607044 endingPage "e9140" @default.
• W2045607044 startingPage "e9140" @default.
• W2045607044 abstract "Inherited cardiomyopathy (CM) represents a diverse group of cardiac muscle diseases that present with a broad spectrum of symptoms ranging from benign to highly malignant. Contributing to this genetic complexity and clinical heterogeneity is the emergence of a cohort of patients that are double or compound heterozygotes who have inherited two different CM mutant alleles in the same or different sarcomeric gene. These patients typically have early disease onset with worse clinical outcomes. Little experimental attention has been directed towards elucidating the physiologic basis of double CM mutations at the cellular-molecular level. Here, dual gene transfer to isolated adult rat cardiac myocytes was used to determine the primary effects of co-expressing two different CM-linked mutant proteins on intact cardiac myocyte contractile physiology. Dual expression of two CM mutants, that alone moderately increase myofilament activation, tropomyosin mutant A63V and cardiac troponin mutant R146G, were shown to additively slow myocyte relaxation beyond either mutant studied in isolation. These results were qualitatively similar to a combination of moderate and strong activating CM mutant alleles alphaTmA63V and cTnI R193H, which approached a functional threshold. Interestingly, a combination of a CM myofilament deactivating mutant, troponin C G159D, together with an activating mutant, cTnIR193H, produced a hybrid phenotype that blunted the strong activating phenotype of cTnIR193H alone. This is evidence of neutralizing effects of activating/deactivating mutant alleles in combination. Taken together, this combinatorial mutant allele functional analysis lends molecular insight into disease severity and forms the foundation for a predictive model to deconstruct the myriad of possible CM double mutations in presenting patients." @default.
• W2045607044 created "2016-06-24" @default.
• W2045607044 creator A5035642806 @default.
• W2045607044 creator A5085011121 @default.
• W2045607044 date "2010-02-10" @default.
• W2045607044 modified "2023-09-23" @default.
• W2045607044 title "Combinatorial Effects of Double Cardiomyopathy Mutant Alleles in Rodent Myocytes: A Predictive Cellular Model of Myofilament Dysregulation in Disease" @default.
• W2045607044 cites W1490442168 @default.
• W2045607044 cites W1537487587 @default.
• W2045607044 cites W1541210620 @default.
• W2045607044 cites W1573173148 @default.
• W2045607044 cites W1573417382 @default.
• W2045607044 cites W1593046472 @default.
• W2045607044 cites W1747748421 @default.
• W2045607044 cites W1901823973 @default.
• W2045607044 cites W1965246031 @default.
• W2045607044 cites W1971187965 @default.
• W2045607044 cites W1972645105 @default.
• W2045607044 cites W1976925354 @default.
• W2045607044 cites W1981967935 @default.
• W2045607044 cites W1982066352 @default.
• W2045607044 cites W1986110163 @default.
• W2045607044 cites W1987363474 @default.
• W2045607044 cites W1993372563 @default.
• W2045607044 cites W1993451622 @default.
• W2045607044 cites W1997906151 @default.
• W2045607044 cites W1999251970 @default.
• W2045607044 cites W2000179320 @default.
• W2045607044 cites W2004333037 @default.
• W2045607044 cites W2012739369 @default.
• W2045607044 cites W2017920881 @default.
• W2045607044 cites W2017968531 @default.
• W2045607044 cites W2021472574 @default.
• W2045607044 cites W2037030280 @default.
• W2045607044 cites W2045394907 @default.
• W2045607044 cites W2048873081 @default.
• W2045607044 cites W2052627618 @default.
• W2045607044 cites W2057847360 @default.
• W2045607044 cites W2058150433 @default.
• W2045607044 cites W2061635604 @default.
• W2045607044 cites W2062103092 @default.
• W2045607044 cites W2062278724 @default.
• W2045607044 cites W2062792913 @default.
• W2045607044 cites W2062830678 @default.
• W2045607044 cites W2066216913 @default.
• W2045607044 cites W2072419932 @default.
• W2045607044 cites W2080159521 @default.
• W2045607044 cites W2080234885 @default.
• W2045607044 cites W2081275631 @default.
• W2045607044 cites W2083920985 @default.
• W2045607044 cites W2084136804 @default.
• W2045607044 cites W2086375139 @default.
• W2045607044 cites W2088570319 @default.
• W2045607044 cites W2101780631 @default.
• W2045607044 cites W2109101320 @default.
• W2045607044 cites W2110412482 @default.
• W2045607044 cites W2110439703 @default.
• W2045607044 cites W2116230344 @default.
• W2045607044 cites W2116351152 @default.
• W2045607044 cites W2117464001 @default.
• W2045607044 cites W2118587831 @default.
• W2045607044 cites W2127423627 @default.
• W2045607044 cites W2129357784 @default.
• W2045607044 cites W2129377571 @default.
• W2045607044 cites W2130345392 @default.
• W2045607044 cites W2132374854 @default.
• W2045607044 cites W2137360601 @default.
• W2045607044 cites W2140752009 @default.
• W2045607044 cites W2142665585 @default.
• W2045607044 cites W2149422196 @default.
• W2045607044 cites W2151884546 @default.
• W2045607044 cites W2154037026 @default.
• W2045607044 cites W2155595253 @default.
• W2045607044 cites W2159669366 @default.
• W2045607044 cites W2162635257 @default.
• W2045607044 cites W2165369091 @default.
• W2045607044 cites W2166700721 @default.
• W2045607044 cites W2171517780 @default.
• W2045607044 cites W2175328062 @default.
• W2045607044 cites W2261397 @default.
• W2045607044 cites W2345608927 @default.
• W2045607044 cites W2613628504 @default.
• W2045607044 cites W31203891 @default.
• W2045607044 doi "https://doi.org/10.1371/journal.pone.0009140" @default.
• W2045607044 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2818843" @default.
• W2045607044 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20161772" @default.
• W2045607044 hasPublicationYear "2010" @default.
• W2045607044 type Work @default.
• W2045607044 sameAs 2045607044 @default.
• W2045607044 citedByCount "11" @default.
• W2045607044 countsByYear W20456070442012 @default.
• W2045607044 countsByYear W20456070442014 @default.
• W2045607044 countsByYear W20456070442016 @default.
• W2045607044 countsByYear W20456070442017 @default.
• W2045607044 countsByYear W20456070442020 @default.
• W2045607044 countsByYear W20456070442022 @default.
• W2045607044 crossrefType "journal-article" @default.
• W2045607044 hasAuthorship W2045607044A5035642806 @default.

• next