Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy

HC Zahr, DE Jaalouk - Frontiers in genetics, 2018 - frontiersin.org
Mutations in the LMNA gene, which encodes for the nuclear lamina proteins lamins A and C,
are responsible for a diverse group of diseases known as laminopathies. One type of …

Epigenetics in LMNA-Related Cardiomyopathy

Y Wang, G Dobreva - Cells, 2023 - mdpi.com
Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as
laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is …

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis

HP Widyastuti, TM Norden-Krichmar, A Grosberg… - BMC medical …, 2020 - Springer
Background Intermediate filament proteins that construct the nuclear lamina of a cell include
the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental …

The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype

S Crasto, I My, E Di Pasquale - Frontiers in Physiology, 2020 - frontiersin.org
Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated
with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs …

Genomic reorganization of lamin-associated domains in cardiac myocytes is associated with differential gene expression and DNA methylation in human dilated …

SM Cheedipudi, SJ Matkovich, C Coarfa, X Hu… - Circulation …, 2019 - Am Heart Assoc
Rationale: LMNA (Lamin A/C), a nuclear membrane protein, interacts with genome through
lamin-associated domains (LADs) and regulates gene expression. Mutations in the LMNA …

Role of lamin A/C gene mutations in the signaling defects leading to cardiomyopathies

A Gerbino, G Procino, M Svelto… - Frontiers in Physiology, 2018 - frontiersin.org
Nuclear lamin A/C are crucial components of the intricate protein mesh that underlies the
inner nuclear membrane and confers mainly nuclear and cytosolic rigidity. However …

The LMNA mutation p. Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins

R Al-Saaidi, TB Rasmussen, J Palmfeldt… - Experimental cell …, 2013 - Elsevier
Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by cardiac
chamber enlargement and reduced systolic function of the left ventricle. Mutations in the …

RNA sequence analyses throughout the course of mouse cardiac laminopathy identify differentially expressed genes for cell cycle control and mitochondrial function

Z Shao, W Koh, Y Ni, W Li, B Agatisa-Boyle… - Scientific Reports, 2020 - nature.com
Abstract Lamin A/C (LMNA) gene mutations are a known cause of familial dilated
cardiomyopathy, but the precise mechanisms triggering disease progression remain …

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

JT Lu, A Muchir, PL Nagy… - Disease models & …, 2011 - journals.biologists.com
Mutations in the LMNA gene, which encodes A-type nuclear lamins (intermediate filament
proteins expressed in most differentiated somatic cells), cause a diverse range of diseases …

BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C–deficient mice

G Auguste, L Rouhi, SJ Matkovich… - The Journal of …, 2020 - Am Soc Clin Investig
Mutation in the LMNA gene, encoding lamin A/C, causes a diverse group of diseases called
laminopathies. Cardiac involvement is the major cause of death and manifests as dilated …