Cardiomyopathies: an overview

T Ciarambino, G Menna, G Sansone… - International journal of …, 2021 - mdpi.com
Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by
structural and functional alterations of the heart. Aims: The purpose of this narrative review is …

Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells

KJ Roux, DI Kim, M Raida, B Burke - Journal of cell biology, 2012 - rupress.org
We have developed a new technique for proximity-dependent labeling of proteins in
eukaryotic cells. Named BioID for proximity-dependent biotin identification, this approach is …

Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: a translational review of current literature

D Reichart, C Magnussen, T Zeller… - Journal of internal …, 2019 - Wiley Online Library
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilatation and,
consecutively, contractile dysfunction. The causes of DCM are heterogeneous. DCM often …

The muscular dystrophies

AEH Emery - The Lancet, 2002 - thelancet.com
The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

Emery‐Dreifuss muscular dystrophy

SA Heller, R Shih, R Kalra, PB Kang - Muscle & nerve, 2020 - Wiley Online Library
Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

“Laminopathies”: a wide spectrum of human diseases

HJ Worman, G Bonne - Experimental cell research, 2007 - Elsevier
Mutations in genes encoding the intermediate filament nuclear lamins and associated
proteins cause a wide spectrum of diseases sometimes called “laminopathies.” Diseases …

Nuclear lamins: building blocks of nuclear architecture

RD Goldman, Y Gruenbaum, RD Moir… - Genes & …, 2002 - genesdev.cshlp.org
Nuclear lamins were initially identified as the major components of the nuclear lamina, a
proteinaceous layer found at the interface between chromatin and the inner nuclear …

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

MRG Taylor, PR Fain, G Sinagra, ML Robinson… - Journal of the American …, 2003 - jacc.org
Objectives: We examined the prevalence, genotype-phenotype correlation, and natural
history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM) …

Nuclear lamins: laminopathies and their role in premature ageing

JLV Broers, FCS Ramaekers, G Bonne… - Physiological …, 2006 - journals.physiology.org
It has been demonstrated that nuclear lamins are important proteins in maintaining cellular
as well as nuclear integrity, and in maintaining chromatin organization in the nucleus …