Results 21 to 30 of about 3,036 (198)

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan. [PDF]

Aging (Albany NY)
Okawa Y, Matsuo M, Kosaki R, Tonoki H, Fujimoto M, Ozono K, Saitou H, Kubota T, Ohata Y, Namba N, Akaboshi S, Komaki H, Inagaki N, Kato E, Maruo Y, Yonekawa T, Nakamura T, Hayashi K, Miwa S, Magota M, Ihara K.   +20 more
europepmc   +3 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

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies. [PDF]

Genes (Basel)
Bhide S, Chandran S, Rajasekaran NS, Melkani GC.   +3 more
europepmc   +3 more sources

Need for NAD⁺: Focus on Striated Muscle Laminopathies

Cells, 2020
Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork ...
Déborah Cardoso, Antoine Muchir
doaj   +1 more source

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Stem Cell Research, 2020
Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p.
Kseniya Perepelina, Polina Klauzen, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Dmitry Rudenko, Mikhail Gordeev, Alexey Sergushichev, Anna Malashicheva, Anna Kostareva   +9 more
doaj   +1 more source

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

Frontiers in Cell and Developmental Biology, 2023
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar, Sergi Cesar, Sergi Cesar, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Victori Fiol, Victori Fiol, Victori Fiol, Isaac Moll, Isaac Moll, Isaac Moll, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Carlos Ortez, Carlos Ortez, Laura Carrera, Laura Carrera, Jessica Expósito, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +47 more
doaj   +1 more source

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

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.
Hannah A. Nicolas, Marie-Andrée Akimenko, Frédérique Tesson   +2 more
doaj   +1 more source