Results 11 to 20 of about 6,801 (167)

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles).
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
doaj   +3 more sources

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism [PDF]

EBioMedicine, 2020
Background: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes.
Peter Meinke, Alastair R.W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer   +12 more
doaj   +2 more sources

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts [PDF]

Cells
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated ...
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Paola Cavalcante, Federico Corradi, Daniela Benati, Giorgia Farinazzo, Marco Cattaneo, Veronica De Sanctis, Roberto Bertorelli, Lorenzo Maggi, Melania Giannotta, Antonella Pini, Gaetano Vattemi, Denise Cassandrini, Marco Cavallo, Cristina Manferdini, Gina Lisignoli, Beatrice Fontana, Ilaria Pace, Claudio Bruno, Roberta Roncarati, Chiara Fiorillo, Manuela Ferracin, Eric C. Schirmer, Alessandra Recchia, Giovanna Lattanzi   +28 more
doaj   +2 more sources

Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy [PDF]

Neurology International, 2018
Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
doaj   +2 more sources

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization

Nature Communications, 2021
The nuclear envelope tethers chromatin to the nuclear periphery to control genome architecture. Here, the authors show that Net39 preserves the integrity and gene expression of muscle nuclei in mice, and it may contribute to the pathogenesis of Emery ...
Andres Ramirez-Martinez, Yichi Zhang, Kenian Chen, Jiwoong Kim, Bercin K. Cenik, John R. McAnally, Chunyu Cai, John M. Shelton, Jian Huang, Ana Brennan, Bret M. Evers, Pradeep P. A. Mammen, Lin Xu, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson   +15 more
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

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy

The Turkish Journal of Pediatrics, 2020
Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases.
Hande Tekin, Sanem Yılmaz, Hasan Tekgül, Sarenur Gökben, Gül Aktan   +4 more
doaj   +1 more source

Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy [PDF]

Cardiology Journal, 2020
Andrzej Kułach, Michał Majewski, Zbigniew Gąsior, Rafał Gardas, Kinga Gościńska-Bis, Krzysztof S. Gołba   +5 more
doaj   +2 more sources

Probing the environment of emerin by Enhanced ascorbate peroxidase 2 (APEX2)-mediated proximity labeling. [PDF]

, 2020
Emerin is one of the best characterized proteins of the inner nuclear membrane, but can also occur at the level of the endoplasmic reticulum. We now use enhanced ascorbate peroxidase 2 (APEX2) to probe the environment of emerin.
James, C., Kehlenbach, R., Lenz, C., Müller, M., Urlaub, H.   +4 more
core   +1 more source

Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]

, 2005
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core   +4 more sources