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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.…
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Keywords:
calcium;
lmna cardiomyopathy;
activation sarcolipin;
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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…
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Keywords:
dual specificity;
specificity protein;
lmna cardiomyopathy;
lamin gene ... See more keywords
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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…
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Keywords:
cardiomyopathy;
cardiac conduction;
microtubule cytoskeleton;
lmna cardiomyopathy ... See more keywords