Results 11 to 20 of about 1,238 (171)

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

Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology [PDF]

Proceedings of the National Academy of Sciences of the United States of America
Toshifumi Azuma, Shigeaki Kato, Shoko Onodera   +2 more
exaly   +2 more sources

Reciprocated tachycardias in cardiac laminopathy: a clinical case report [PDF]

European Heart Journal - Case Reports
Golnaz Houshmand, Natalia Sonicheva‐Paterson, Svetlana Alexandrova   +2 more
exaly   +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

IFN-Aging: Coupling Aging With Interferon Response

Frontiers in Aging, 2022
Chronic inflammation affects many diseases and conditions, including aging. Interferons are a part of the immune defense against viral infections. Paradoxically, various aging tissues and organs from mammalian hosts perpetually accumulate changes brought
Wei Cao
doaj   +1 more source

The Interplay between Oxidative Stress and the Nuclear Lamina Contributes to Laminopathies and Age-Related Diseases

Cells, 2023
Oxidative stress is a physiological condition that arises when there is an imbalance between the production of reactive oxygen species (ROS) and the ability of cells to neutralize them.
Lidya Kristiani, Youngjo Kim
doaj   +1 more source

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +2 more sources

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C

Frontiers in Endocrinology, 2021
PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of
Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri   +7 more
doaj   +1 more source

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent “Lone AF” Patients: Results and Insights

Frontiers in Cardiovascular Medicine, 2022
ObjectiveMutations in the Lamin A/C(LMNA) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare LMNA variants are unknown.
Gabrielle D'Arezzo Pessente, Gabrielle D'Arezzo Pessente, Luciana Sacilotto, Zaine Oliveira Calil, Natalia Quintella Sangiorgi Olivetti, Fanny Wulkan, Théo Gremen Mimary de Oliveira, Anísio Alexandre Andrade Pedrosa, Tan Chen Wu, Denise Tessariol Hachul, Maurício Ibrahim Scanavacca, José Eduardo Krieger, Francisco Carlos da Costa Darrieux, Alexandre da Costa Pereira   +13 more
doaj   +1 more source

Premature aging of the body - the role of laminopathy [PDF]

Farmacja Polska, 2021
Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska, Zofia Dzierżewicz, Natalia Magdalena Schäfer, Karol Jasiński, Anna Kusakiewicz-Dawid, Dawid Bursy, Urszula Skotnicka-Graca, Radosław Jerzy Balwierz   +7 more
doaj   +1 more source