Results 191 to 200 of about 23,382 (212)

LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability

Journal of Molecular Neuroscience, 2019
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these forms, muscle weakness, contractures, and cardiac impairment are common. In an autosomal dominant pedigree including 5 affected patients, NGS molecular analysis performed in 6 ...
Ana Cotta, Julia F. Paim, Elmano Carvalho, Jaquelin Valicek, Antonio L. da Cunha Junior, Monica M. Navarro, Antonio P. Vargas, Maria I. Lima, Camila F. de Almeida, Reinaldo I. Takata, Mariz Vainzof   +10 more
openaire   +2 more sources

Abstract 4370250: Regulatory Profiling of LMNA Identifies Therapeutic Targets for LMNA-Associated Dilated Cardiomyopathy

Circulation
Introduction/Background: LMNA (encoding gene lamin A/C) cardiomyopathy is associated with high morbidity and mortality. LMNA loss-of-function variants frequently lead to dilated cardiomyopathy with high arrhythmic burden, necessitating transplantation or resulting in heart failure.
Maria Viskadourou, Andrew Rojnuckarin, Jinghan Xiao, Nicholas Saba, Elyse Shoppell, D. Mark Eckley, Bradley Yates, Yuri Kim, Hugh Watkins, Michael Beer, Gregory Newby   +10 more
openaire   +1 more source

Long-range gene editing of LMNA

Cardiovascular Research
Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Hartstichting (Dutch Heart Foundation) Background Mutations in the LMNA gene commonly affect the cardiac muscle tissue, which leads to the ...
A A M B Rooijakkers, Y M Pinto, A J M Tijsen   +2 more
openaire   +1 more source

LMNA mutations in cardiac transplant recipients.

Cardiology, 2005
Lamin A and C are components of the nuclear envelope, located at the nucleoplasmatic surface of the inner nuclear membrane within cells. Recently, mutations within LMNA encoding lamin A/C have been associated with various disease entities including cardiomyopathy.
Klaus, Pethig, Janine, Genschel, Tina, Peters, Mathias, Wilhelmi, Peer, Flemming, Herbert, Lochs, Axel, Haverich, Hartmut H-J, Schmidt   +7 more
openaire   +1 more source

Gene symbol: LMNA.

Human genetics, 2007
E. Arbustini, M. Pasotti, A. Pilotto, M. Diegoli, A. Brega, E. Disabella, M. Grasso, N. Marziliano   +7 more
openaire   +5 more sources

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes

Cell Stem Cell, 2021
Parisha Shah, Andrey Poleshko, Deepti Abbey   +2 more
exaly  

Epigenetics in LMNA-Related Cardiomyopathy

Cells, 2023
Yinuo Wang, Gergana Dobreva
exaly  

Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy

Science Translational Medicine, 2020
Nazish Sayed, Chun Liu, Ming-Tao Zhao
exaly  

LMNA functions as an oncogene in hepatocellular carcinoma by regulating the proliferation and migration ability

Journal of Cellular and Molecular Medicine, 2020
Liping Wang, Ming Chen
exaly  

Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy

Nature, 2019
Jaecheol Lee, Vittavat Termglinchan, Sebastian Diecke   +2 more
exaly