Results 41 to 50 of about 23,382 (212)
Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy. [PDF]
PLoS ONE, 2011 Dilated cardiomyopathy (DCM), characterized by left ventricular dilatation and systolic dysfunction, constitutes a significant cause for heart failure, sudden cardiac death or need for heart transplantation.
Marko Sysi-Aho +13 more
doaj +1 more source
Mammalian telomeres and their partnership with lamins [PDF]
, 2016 Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins.
BURLA, ROMINA +2 more
core +1 more source
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. [PDF]
PLoS ONE, 2010 Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies.
Stephanie K Mewborn +12 more
doaj +1 more source
Nucleus, 2023 Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu +5 more
doaj +1 more source
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy [PDF]
Human Genome Variation, 2018 AbstractLMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular ...
Akihiko Ishiyama +7 more
openaire +2 more sources
BMC Medical Genomics, 2023 LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies.
Lei Chang +6 more
doaj +1 more source
Genomic instability and DNA replication defects in progeroid syndromes [PDF]
, 2018 Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging.
Chiara Merigliano +4 more
core +1 more source
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations [PDF]
Human Mutation, 2011 Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada,
Scharner, Juergen +16 more
openaire +3 more sources
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Myonuclear degeneration in LMNA null mice
The FASEB Journal, 2008 Lamins A/C, the major constituent of the nuclear lamina, confer mechanical stability to nuclei. We examined the myonuclei of LMNA null mice at the myotendinous junctions (MTJ), the site of longitudinal force transmission from contractile proteins to extracellular proteins.
Michel, Mittelbronn +3 more
openaire +3 more sources