Results 71 to 80 of about 22,553 (288)
Dynamic location problems with limited look-ahead [PDF]
, 2001 Background Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those in the lamin A/C (LMNA) gene. Our goal was to analyze the LMNA gene in patients with DCM and/or conduction disease referred to the cardiogenetics ...
Hofstra, Robert M. W. +14 more
core +6 more sources
International retrospective natural history study of LMNA-related congenital muscular dystrophy
Brain Communications, 2021 Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood.
R. Ben Yaou +43 more
semanticscholar +1 more source
Proteomics Characterization of Extracellular Space Components in the Human Aorta [PDF]
, 2010 The vascular extracellular matrix (ECM) is essential for the structural integrity of the vessel wall and also serves as a substrate for the binding and retention of secreted products of vascular cells as well as molecules coming from the circulation ...
Bregant +40 more
core +2 more sources
Reactivation of autophagy amelioratesLMNAcardiomyopathy [PDF]
Autophagy, 2013 Mutations in the LMNA gene, which encodes lamin A and C (lamin A/C), cause a diverse spectrum of tissue-selective diseases termed laminopathies. The most prevalent form affects striated muscles as dilated cardiomyopathy with variable skeletal muscle involvement, which includes autosomal Emery-Dreifuss muscular dystrophy.
Jason C. Choi, Howard J. Worman
openaire +3 more sources
Science Translational Medicine, 2020 Patient-specific iPSCs model endothelial dysfunction in lamin A and C–related dilated cardiomyopathy and identify lovastatin as a therapy. Lovastatin for cardiolaminopathy Mutations in LMNA, which encodes nuclear envelope proteins, can cause dilated ...
N. Sayed +16 more
semanticscholar +1 more source
European Journal of Endocrinology, 2021 AIMS LMNA-linked Familial Partial Lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases.
G. Treiber +24 more
semanticscholar +1 more source
Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells [PDF]
, 2011 Copyright @ 2011 Mehta et al.; licensee BioMed Central Ltd. This article has been made available through the Brunel Open Access Publishing Fund. This is an open access article distributed under the terms of the Creative Commons Attribution License ...
Arican, HD +4 more
core +2 more sources
Research Models for Studying Vascular Calcification [PDF]
, 2020 Calcification of the vessel wall contributes to high cardiovascular morbidity and mortality. Vascular calcification (VC) is a systemic disease with multifaceted contributing and inhibiting factors in an actively regulated process.
Babic, Milen +4 more
core +1 more source
Irisin levels in LMNA-mutated lipodystrophic syndromes [PDF]
Orphanet Journal of Rare Diseases, 2015 Sarcopenia is defined by decreased muscle mass and impaired muscle function, which may be associated with frailty and eventually higher mortality rates. It is physiologically induced by aging but also related to obesity by different mechanisms such as 1) diminished physical activity; 2) elevated oxidative stress; 3) inflammatory cytokines; 4) increased
Faiza Bensmaine +1 more
openaire +2 more sources
The ubiquitin E3/E4 ligase, UBE4A, fine-tunes protein ubiquitylation and accumulation at sites of DNA damage facilitating double-strand break repair [PDF]
, 2018 Double-strand breaks (DSBs) are critical DNA lesions that robustly activate the elaborate DNA damage response (DDR) network. We identified a critical player in DDR fine-tuning - the E3/E4 ubiquitin ligase, UBE4A.
Baranes Bachar, Keren +4 more
core +1 more source