Phosphorylation of Lamin A/C regulates the structural integrity of the nuclear envelope. [PDF]
Liu S+8 more
europepmc +1 more source
Autophagy induction enhances homologous recombination-associated CRISPR-Cas9 gene editing. [PDF]
Nam HJ+9 more
europepmc +1 more source
Determinants of artificial intelligence electrocardiogram-derived age and its association with cardiovascular events and mortality: a systematic review and meta-analysis. [PDF]
Mossavarali S+6 more
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A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients. [PDF]
Rajan R+8 more
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Dynamic properties of transcriptional condensates modulate CRISPRa-mediated gene activation. [PDF]
Fu Y+17 more
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Exploration of altered molecular pathways involved in pathophysiology of LMNA-cardiomyopathy
Blanca Morales Rodríguez
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Modulation of cytoskeleton in cardiomyopathy caused by mutation in LMNA gene.
American Journal of Physiology - Cell Physiology, 2023Dilated cardiomyopathy caused by mutations in LMNA, encoding A-type lamins (i.e., LMNA cardiomyopathy), is characterized by a left ventricle enlargement and ultimately results in poor cardiac contractility associated with conduction disease.
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LMNA mutations in atypical Werner's syndrome
The Lancet, 2003Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).Of 129 index patients referred to our ...
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