Articles with "lmna cardiomyopathy" as a keyword



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Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

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Published in 2020 at "Biochemistry and Biophysics Reports"

DOI: 10.1016/j.bbrep.2020.100767

Abstract: Cardiomyopathy caused by A-type lamins gene (LMNA) mutations (LMNA cardiomyopathy) is associated with dysfunction of the heart, often leading to heart failure. LMNA cardiomyopathy is highly penetrant with bad prognosis with no specific therapy available.… read more here.

Keywords: calcium; lmna cardiomyopathy; activation sarcolipin;
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Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy134

Abstract: Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as… read more here.

Keywords: dual specificity; specificity protein; lmna cardiomyopathy; lamin gene ... See more keywords
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Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.

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Published in 2018 at "Human molecular genetics"

DOI: 10.1093/hmg/ddy227

Abstract: Mutations in the lamin A/C gene (LMNA) cause an autosomal dominant inherited form of dilated cardiomyopathy associated with cardiac conduction disease (hereafter referred to as LMNA cardiomyopathy). Compared with other forms of dilated cardiomyopathy, mutations… read more here.

Keywords: cardiomyopathy; cardiac conduction; microtubule cytoskeleton; lmna cardiomyopathy ... See more keywords