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 …

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 …

Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

G Peretto, S Sala, S Benedetti, C Di Resta, L Gigli… - Nucleus, 2018 - Taylor & Francis
Cardiac laminopathies, associated with mutations in the LMNA gene, encompass a wide
spectrum of clinical manifestations, involving electrical and mechanical alterations of …

Lamin and the heart

G Captur, E Arbustini, G Bonne, P Syrris, K Mills… - Heart, 2018 - heart.bmj.com
Lamins A and C are intermediate filament nuclear envelope proteins encoded by the LMNA
gene. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for …

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

D Brayson, CM Shanahan - Nucleus, 2017 - Taylor & Francis
The nuclear lamina is a critical structural domain for the maintenance of genomic stability
and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type …

Lamin A/C and cardiac diseases

N Sylvius, F Tesson - Current opinion in cardiology, 2006 - journals.lww.com
The cardiac phenotype associated to LMNA mutations is now much clearer, but the
molecular mechanisms underlying cellular and tissue specific phenotypes are still puzzling …

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 …

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

CM Wolf, L Wang, R Alcalai, A Pizard… - Journal of molecular and …, 2008 - Elsevier
Mutations in the lamin A/C (LMNA) gene, which encodes nuclear membrane proteins, cause
a variety of human conditions including dilated cardiomyopathy (DCM) with associated …

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 …

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy

C Forleo, M Carmosino, N Resta, A Rampazzo… - PloS one, 2015 - journals.plos.org
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy
(DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular …