Results 11 to 20 of about 2,917 (255)

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

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

Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish [PDF]

Scientific Reports
Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Shao-Wei Pan, Horng-Dar Wang, He-Yun Hsiao, Po-Jui Hsu, Yung-Che Tseng, Wen-Chen Liang, Yuh-Jyh Jong, Chiou-Hwa Yuh   +7 more
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

Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSCs [PDF]

Cell Stem Cell, 2011
Guang-Hui Liu, Keiichiro Suzuki, Jing Qu
exaly   +2 more sources

Reevaluating the cause of laminopathy in Alzheimer's disease. [PDF]

Neural Regen Res, 2023
Islam MI, Eftekharpour E.
europepmc   +2 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
Hiroyuki Okada, Shoko Onodera, Natsuko Aida   +2 more
exaly   +2 more sources

Genotype-guided cardiac device intervention in LMNA-related cardiac conduction disorder: The need for timely genetic testing. [PDF]

Eur J Heart Fail
European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Inoue S, Dai Z, Oshima T, Nomura S, Hiruma T, Abe R, Fujita K, Katoh M, Ko T, Shimizu Y, Ito M, Yamagata K, Ishida J, Amiya E, Hatano M, Takeda N, Morita H, Fujiu K, Takeda N, Komuro I.   +19 more
europepmc   +2 more sources

Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His

Stem Cell Research, 2021
Cardiac laminopathy caused by mutations in the LMNA gene are common and highly penetrant with a poor prognosis. We have generated a novel human induced pluripotent stem cell(iPSC) lines YCMi003-A from a patient with dilated cardiomyopathy associated with
Jaewon Oh, Sun-Ho Lee, Jungyoon Choi, Jong Rak Choi, Sangwoo Kim, Yun-Ji Cha, Hyo-Kyoung Choi, Dongju Won, Ho-Geun Yoon, Sahng Wook Park, Seok-Min Kang, Seung-Tae Lee, Seung-Hyun Lee   +12 more
doaj   +1 more source

Post-Translational Modification of Lamins: Mechanisms and Functions

Frontiers in Cell and Developmental Biology, 2022
Lamins are the ancient type V intermediate filament proteins contributing to diverse biological functions, such as the maintenance of nuclear morphology, stabilization of chromatin architecture, regulation of cell cycle progression, regulation of spatial-
Mingyue Zheng, Guoxiang Jin, Zhongjun Zhou   +2 more
doaj   +1 more source