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Nuclear envelope components in vascular mechanotransduction: emerging roles in vascular health and disease. [PDF]
NucleusNguyen TD +4 more
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Arrhythmic phenotypes of cardiac laminopathies: a case series
С. М. Комиссарова +5 more
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The Journal of Pathology, 2004
AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers +2 more
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AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers +2 more
openaire +3 more sources
Molecular Pathology of Laminopathies
Annual Review of Pathology: Mechanisms of Disease, 2022The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. Mutations in the single gene encoding lamin A and C, which are expressed in most differentiated somatic ...
Ji-Yeon, Shin, Howard J, Worman
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2012
The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following
Nadir M Maraldi, Giovanna Lattanzi
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The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following
Nadir M Maraldi, Giovanna Lattanzi
openaire +3 more sources
Laminopathies: A chromatin affair
Advances in Enzyme Regulation, 2006In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have been so far identified), affecting metabolic and/or developmental processes, have been demonstrated to be caused by mutation of LMNA gene and collectively referred to as laminopathies.
NM MARALDI +7 more
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Seminars in Cell & Developmental Biology, 2014
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Feriel, Azibani +4 more
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Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Feriel, Azibani +4 more
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Laminopathies: Multisystem dystrophy syndromes
Molecular Genetics and Metabolism, 2006Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type A lamins and can manifest varied clinical features affecting many organs including the skeletal and cardiac muscle, adipose tissue, nervous system, cutaneous tissue, and bone.
Katherine N, Jacob, Abhimanyu, Garg
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