Results 21 to 30 of about 283,904 (179)

Molecular signatures of Emery–Dreifuss muscular dystrophy

Biochemical Society Transactions, 2008
Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy).
Wheeler, Matthew A., Ellis, Juliet A.
openaire   +4 more sources

The role of lamin A and emerin in mediating genome organisation [PDF]

, 2010
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The nuclear matrix (NM) is proposed to be a permanent network of core filaments underlying thicker fibres, present regardless of transcriptional activity ...
Godwin, Lauren Sarah
core   +7 more sources

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope [PDF]

, 2001
Physical interactions between lamins and emerin were investigated by co-immunoprecipitation of in vitro translated proteins. Emerin interacted with in vitro translated lamins A, B1 and C in co-immunprecipitation reactions.
Whitfield, WGF, Vaughan, A, Hutchison, CJ, Wehnert, M, Bridger, JM, Morris, GE, Broers, JL, Raemakers, FC, Alvarez-Reyes, M   +8 more
core   +8 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

Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report

Brazilian Journal of Anesthesiology, 2023
Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce.
Ana Isabel Leite, Sofia da Silva Ramos, Raquel In..cio, Isabel Rute Vilhena, Joana Carvalhas   +4 more
doaj   +1 more source

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

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

Case Reports in Genetics, 2020
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li   +8 more
doaj   +1 more source

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype

Biomolecules, 2021
The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli, Marika Milan, Pierluigi Giuseppe Manti, Andrea Bianchi, Federica Lucini, Philina Santarelli, Claudia Bearzi, Roberto Rizzi, Chiara Lanzuolo   +8 more
doaj   +1 more source