Results 11 to 20 of about 2,659 (169)
Sterile inflammation in laminopathies [PDF]
European Journal of Cell BiologySterile 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.
Rafael Cancado de Faria, Susana Gonzalo
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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 ...
Gan Zhao +5 more
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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.
Frédérique Tesson +2 more
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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 T Bertrand +2 more
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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
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Lamin A/C Mechanotransduction in Laminopathies
Cells, 2020 Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins ...
Francesca Donnaloja +3 more
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Frontiers in Physiology, 2018 Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Francesco Saverio Tedesco +2 more
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Drosophila 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 ...
Aleksandra Zielińska +3 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.
Antia Fernández-Pombo +2 more
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Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report [PDF]
Frontiers in Cardiovascular MedicineMandibuloacral dysplasia type A (MADA) is a rare progeroid syndrome associated with mutations in the Lamin A/C (LMNA) gene, primarily affecting skeletal, cutaneous, and adipose tissues.
Yi Guo +4 more
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