Matches in SemOpenAlex for { <https://semopenalex.org/work/W2904287147> ?p ?o ?g. }
- W2904287147 abstract "In spite of the widespread role of calmodulin (CaM) in cellular signaling, CaM mutations lead specifically to cardiac manifestations, characterized by remarkable electrical instability and a high incidence of sudden death at young age. Penetrance of the mutations is surprisingly high, thus postulating a high degree of functional dominance. According to the clinical patterns, arrhythmogenesis in CaM mutations can be attributed, in the majority of cases, to either prolonged repolarization (as in long-QT syndrome, LQTS phenotype), or to instability of the intracellular Ca2+ store (as in catecholamine-induced tachycardias, CPVT phenotype). This review discusses how mutations affect CaM signaling function and how this may relate to the distinct arrhythmia phenotypes/mechanisms observed in patients; this involves mechanistic interpretation of negative dominance and mutation-specific CaM-target interactions. Knowledge of the mechanisms involved may allow critical approach to clinical manifestations and aid in the development of therapeutic strategies for calmodulinopathies, a recently identified nosological entity." @default.
- W2904287147 created "2018-12-22" @default.
- W2904287147 creator A5005072306 @default.
- W2904287147 creator A5021994330 @default.
- W2904287147 creator A5022246221 @default.
- W2904287147 creator A5023356170 @default.
- W2904287147 creator A5062476392 @default.
- W2904287147 creator A5064803116 @default.
- W2904287147 creator A5081773488 @default.
- W2904287147 date "2018-12-11" @default.
- W2904287147 modified "2023-09-23" @default.
- W2904287147 title "Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes" @default.
- W2904287147 cites W1544043865 @default.
- W2904287147 cites W1595570385 @default.
- W2904287147 cites W1601691609 @default.
- W2904287147 cites W1628979938 @default.
- W2904287147 cites W1960357398 @default.
- W2904287147 cites W1964152667 @default.
- W2904287147 cites W1965325268 @default.
- W2904287147 cites W1965608446 @default.
- W2904287147 cites W1965661118 @default.
- W2904287147 cites W1967358522 @default.
- W2904287147 cites W1968901680 @default.
- W2904287147 cites W1977643725 @default.
- W2904287147 cites W1977871129 @default.
- W2904287147 cites W1991753089 @default.
- W2904287147 cites W1996333756 @default.
- W2904287147 cites W1997154545 @default.
- W2904287147 cites W2002721539 @default.
- W2904287147 cites W2003724265 @default.
- W2904287147 cites W2012544852 @default.
- W2904287147 cites W2012751980 @default.
- W2904287147 cites W2023717332 @default.
- W2904287147 cites W2027002532 @default.
- W2904287147 cites W2027380922 @default.
- W2904287147 cites W2029870632 @default.
- W2904287147 cites W2031697021 @default.
- W2904287147 cites W2032555893 @default.
- W2904287147 cites W2036145275 @default.
- W2904287147 cites W2037603560 @default.
- W2904287147 cites W2037710668 @default.
- W2904287147 cites W2040179837 @default.
- W2904287147 cites W2043330371 @default.
- W2904287147 cites W2046993659 @default.
- W2904287147 cites W2050824263 @default.
- W2904287147 cites W2052366943 @default.
- W2904287147 cites W2053330127 @default.
- W2904287147 cites W2059364171 @default.
- W2904287147 cites W2062131013 @default.
- W2904287147 cites W2063972551 @default.
- W2904287147 cites W2067686089 @default.
- W2904287147 cites W2068710360 @default.
- W2904287147 cites W2073352540 @default.
- W2904287147 cites W2076794764 @default.
- W2904287147 cites W2079492553 @default.
- W2904287147 cites W2080437238 @default.
- W2904287147 cites W2080615503 @default.
- W2904287147 cites W2081524260 @default.
- W2904287147 cites W2087902062 @default.
- W2904287147 cites W2088649384 @default.
- W2904287147 cites W2100702361 @default.
- W2904287147 cites W2107748489 @default.
- W2904287147 cites W2115439195 @default.
- W2904287147 cites W2115812446 @default.
- W2904287147 cites W2116153674 @default.
- W2904287147 cites W2116234307 @default.
- W2904287147 cites W2116297568 @default.
- W2904287147 cites W2116635624 @default.
- W2904287147 cites W2123360435 @default.
- W2904287147 cites W2126308098 @default.
- W2904287147 cites W2130124702 @default.
- W2904287147 cites W2130401575 @default.
- W2904287147 cites W2131058598 @default.
- W2904287147 cites W2131093518 @default.
- W2904287147 cites W2131624747 @default.
- W2904287147 cites W2139214355 @default.
- W2904287147 cites W2139909390 @default.
- W2904287147 cites W2140694241 @default.
- W2904287147 cites W2141106757 @default.
- W2904287147 cites W2165970697 @default.
- W2904287147 cites W2166330292 @default.
- W2904287147 cites W2166686478 @default.
- W2904287147 cites W2168398034 @default.
- W2904287147 cites W2194464187 @default.
- W2904287147 cites W2332637581 @default.
- W2904287147 cites W2336716321 @default.
- W2904287147 cites W2346429157 @default.
- W2904287147 cites W2405695988 @default.
- W2904287147 cites W2460253967 @default.
- W2904287147 cites W2514933645 @default.
- W2904287147 cites W2520922267 @default.
- W2904287147 cites W2583216773 @default.
- W2904287147 cites W2593518655 @default.
- W2904287147 cites W2614781239 @default.
- W2904287147 cites W2624431553 @default.
- W2904287147 cites W2763402483 @default.
- W2904287147 cites W2786134457 @default.
- W2904287147 cites W2786635794 @default.
- W2904287147 cites W2787806730 @default.
- W2904287147 cites W2904336918 @default.