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The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the <i>LMNA</i> Gene. [PDF]
Int J Mol SciShchagina O +10 more
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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
exaly +3 more sources
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
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Lipodystrophic laminopathies: Diagnostic clues [PDF]
Nucleus, 2018 The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery.
Antía Fernández-Pombo +2 more
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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
Human laminopathies: nuclei gone genetically awry
Nature Reviews Genetics, 2006Few genes have generated as much recent interest as LMNA, LMNB1 and LMNB2, which encode the components of the nuclear lamina. Over 180 mutations in these genes are associated with at least 13 known diseases--the laminopathies. In particular, the study of LMNA, its products and the phenotypes that result from its mutation have provided important ...
Francis S Collins
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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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