Articles with "lamin gene" as a keyword



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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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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy215

Abstract: Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the lamin A/C gene (LMNA cardiomyopathy). The mechanism of how this affects cardiac function is unknown. We show… read more here.

Keywords: cardiomyopathy caused; cofilin; cardiac actin; lamin gene ... See more keywords
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Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy278

Abstract: &NA; Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscle and electrical dysfunction of the heart, often leading to heart failure‐related disability.… read more here.

Keywords: adenine dinucleotide; heart; nicotinamide adenine; caused lamin ... See more keywords