Zobrazeno 1 - 10
of 2 235
pro vyhledávání: '"lamin A/C"'
Publikováno v:
Animal Cells and Systems, Vol 28, Iss 1, Pp 401-416 (2024)
Lamin A/C, a core component of the nuclear lamina, forms a mesh-like structure beneath the inner nuclear membrane. While its structural role is well-studied, its involvement in DNA metabolism remains unclear. We conducted sequential protein fractiona
Externí odkaz:
https://doaj.org/article/252959cfcbaf45b6943abeaefa027f3e
Autor:
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 100-109 (2024)
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-e
Externí odkaz:
https://doaj.org/article/e71a6d2e4cbc420a8756d1031e1da6dd
Publikováno v:
Nucleus, Vol 15, Iss 1 (2024)
The nucleus not only is a repository for DNA but also a center of cellular and nuclear mechanotransduction. From nuclear deformation to the interplay between mechanosensing components and genetic control, the nucleus is poised at the nexus of mechani
Externí odkaz:
https://doaj.org/article/69b0f1644f2b4919a922f43fa0f9bbef
Akademický článek
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Autor:
Atsuki En, Hanumakumar Bogireddi, Briana Thomas, Alexis V. Stutzman, Sachie Ikegami, Brigitte LaForest, Omar Almakki, Peter Pytel, Ivan P. Moskowitz, Kohta Ikegami
Publikováno v:
Cell Reports, Vol 43, Iss 6, Pp 114284- (2024)
Summary: Nuclear envelope (NE) ruptures are emerging observations in Lamin-related dilated cardiomyopathy, an adult-onset disease caused by loss-of-function mutations in Lamin A/C, a nuclear lamina component. Here, we test a prevailing hypothesis tha
Externí odkaz:
https://doaj.org/article/92b6c414548a4b3e8fe247bfe0d2b497
Autor:
Vittorio Candela, Barbara Peruzzi, Martina Leopizzi, Natale Porta, Valeria Di Maio, Benjamin Greenberg, Carlo Della Rocca, Stefano Gumina
Publikováno v:
Journal of Orthopaedics and Traumatology, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background The network of intermediate filament proteins underlying the inner nuclear membrane forms the nuclear lamina. Lamins have been associated with important cellular functions: DNA replication, chromatin organization, differentiation
Externí odkaz:
https://doaj.org/article/f82f2e76e4084e20a106afe859092c43
Autor:
Maria Pina Notarangelo, Letizia Penolazzi, Elisabetta Lambertini, Simonetta Falzoni, Pasquale De Bonis, Cristina Capanni, Francesco Di Virgilio, Roberta Piva
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
A comprehensive understanding of the molecules that play key roles in the physiological and pathological homeostasis of the human intervertebral disc (IVD) remains challenging, as does the development of new therapeutic treatments. We recently found
Externí odkaz:
https://doaj.org/article/9535fd74f6e64ed9908505704d26553a
Publikováno v:
Journal of Physiological Sciences, Vol 73, Iss 1, Pp 1-9 (2023)
Abstract Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities. To elucidate
Externí odkaz:
https://doaj.org/article/ff60e5882ff144e3813910c5e0b0b3ba
Autor:
Chia Yee Tan, Pui Shi Chan, Hansen Tan, Sung Wei Tan, Chang Jie Mick Lee, Jiong-Wei Wang, Shu Ye, Hendrikje Werner, Ying Jie Loh, Yin Loon Lee, Matthew Ackers-Johnson, Roger S. Y. Foo, Jianming Jiang
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-20 (2023)
Abstract Background Dilated cardiomyopathy (DCM) is a severe, non-ischemic heart disease which ultimately results in heart failure (HF). Decades of research on DCM have revealed diverse aetiologies. Among them, familial DCM is the major form of DCM,
Externí odkaz:
https://doaj.org/article/e04ecfd7269447468e9894f9eea45da8
Autor:
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse
Publikováno v:
Pharmaceuticals, Vol 17, Iss 8, p 1030 (2024)
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart f
Externí odkaz:
https://doaj.org/article/f0ae3e135ec24ccfb67cfad1290873a5