Results 11 to 20 of about 5,061 (213)

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies [PDF]

Cells
Nuclear 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, Marta Rowińska, Aleksandra Tomczak, Ryszard Rzepecki   +3 more
doaj   +2 more sources

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, Federica Carnevali, Emanuela Jacchetti, Manuela Teresa Raimondi   +3 more
doaj   +3 more sources

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report [PDF]

Frontiers in Cardiovascular Medicine
Mandibuloacral 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, Xinyi Zhang, Yanfei Meng, Qiuzhe Guo, Xiaoqi Wang   +4 more
doaj   +2 more sources

Sterile inflammation in laminopathies

European Journal of Cell Biology
Sterile 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
doaj   +2 more sources

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants [PDF]

Journal of Cardiovascular Development and Disease
Mutations in the LMNA-gene can cause a variety of ‘laminopathies’. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and ...
Hoi W. Wu, Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, Nina Ajmone Marsan   +8 more
doaj   +2 more sources

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts [PDF]

Cells
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated ...
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Paola Cavalcante, Federico Corradi, Daniela Benati, Giorgia Farinazzo, Marco Cattaneo, Veronica De Sanctis, Roberto Bertorelli, Lorenzo Maggi, Melania Giannotta, Antonella Pini, Gaetano Vattemi, Denise Cassandrini, Marco Cavallo, Cristina Manferdini, Gina Lisignoli, Beatrice Fontana, Ilaria Pace, Claudio Bruno, Roberta Roncarati, Chiara Fiorillo, Manuela Ferracin, Eric C. Schirmer, Alessandra Recchia, Giovanna Lattanzi   +28 more
doaj   +2 more sources

Laminopathies and Atherosclerosis [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2 ...
Khalid Z, Al-Shali, Robert A, Hegele
openaire   +2 more sources

Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

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 ...
Hannah A. Nicolas, Anne T. Bertrand, Sarah Labib, Musfira Mohamed-Uvaize, Pierrette M. Bolongo, Wen Yu Wu, Zofia T. Bilińska, Gisèle Bonne, Marie-Andrée Akimenko, Frédérique Tesson   +9 more
doaj   +1 more source

Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.

PLoS Genetics, 2023
Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects.
Ellen F Gregory, Shilpi Kalra, Trisha Brock, Gisèle Bonne, G W Gant Luxton, Christopher Hopkins, Daniel A Starr   +6 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, LA TORRE, MATTIA, SAGGIO, Isabella   +2 more
core   +1 more source