Results 1 to 10 of about 3,734 (156)
Cellular and Animal Models of Striated Muscle Laminopathies
Cells, 2019 The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C.
Frederique Tesson +2 more
exaly +4 more sources
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
Cells, 2016 LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing.
Lorenzo Maggi +2 more
exaly +4 more sources
The Lamin Proteins in Nuclear Structure, Functions, and Laminopathies. [PDF]
CellsThe lamin proteins are classified into A- and B-types, and together with their associated proteins, they form the nuclear lamina, which governs diverse nuclear structures and functions, including nuclear mechanics, chromatin organization, and gene ...
Zhao G +5 more
europepmc +2 more sources
The p.R249W Mutation in <i>LMNA</i>-Related Congenital Muscular Dystrophy Causes Nuclear Deformities and an Enrichment in Lamin A/C at the Ends of the Nucleus. [PDF]
CellsLMNA-related congenital muscular dystrophy (L-CMD) is a rare genetic disorder that causes skeletal muscle weakening and wasting. Although L-CMD is caused by a variety of de novo point mutations in the LMNA gene, the p.R249W (Arg.249Trp.) pathogenic ...
Harvey C, Zhu Z, Han I, Cao K.
europepmc +2 more sources
Sterile inflammation in laminopathies. [PDF]
Eur J Cell BiolSterile inflammation, an immune response triggered in the absence of pathogens, plays a key role in various chronic diseases, including aging-related disorders, cancer, and autoimmune conditions.
de Faria RC, Gonzalo S.
europepmc +2 more sources
Cells, 2020 Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene (LMNA). LMNA codes for the A-type lamins, which are nuclear intermediate filaments that maintain the nuclear structure and nuclear ...
Anne Bertrand +2 more
exaly +3 more sources
<i>Drosophila</i> as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies. [PDF]
CellsNuclear processes are fundamental to the regulation of cellular, tissue, and organismal function, especially in complex multicellular systems. Central to these processes are lamins and lamin-associated proteins, which contribute to nuclear structure ...
Zielińska A +3 more
europepmc +2 more sources
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction
Cells, 2020 Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Irene Tramacere +2 more
exaly +3 more sources
Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies
Nucleus, 2020 Decades of studies have established that nuclear lamin polymers form the nuclear lamina, a protein meshwork that supports the nuclear envelope structure and tethers heterochromatin to the nuclear periphery.
Kohta Ikegami
exaly +2 more sources
Frontiers in Cardiovascular Medicine, 2023 IntroductionCardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes.
Patricia Guevara-Ramírez +9 more
doaj +1 more source