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 +12 more
doaj +2 more sources
Cells, 2020 Mutations in the gene encoding emerin (EMD) cause Emery–Dreifuss muscular dystrophy (EDMD1), an inherited disorder characterized by progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
Ashvin Iyer, James M. Holaska
doaj +2 more sources
Interactions between nuclear lamins and their binding partners in EDMD fibroblasts [PDF]
, 2003 Lamins are components of the nuclear lamina and are divided In A and B-types, which Interact with proteins of the inner nuclear membrane like emerin.
Alvarez-Reyes, Mauricio
core +6 more sources
An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]
, 2002 Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
core +6 more sources
Investigating the electrical discharge micro drilling for porous architecture in magnesium alloy
International Journal of Lightweight Materials and Manufacture, 2022 Three-dimensional porous architectures (also called scaffolds) of magnesium (Mg) alloys are now highly prevalent for tissue engineering to enable favourable physical and biological environmental support in bone healing.
Lalit Kumar, Kamal Kumar
doaj +1 more source
Orthopaedic Surgery, 2022 Background Emery–Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X‐linked myopathy, and it could result in rigid spinal deformity.
Ziyang Tang +4 more
doaj +1 more source
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology, 2023 Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar +47 more
doaj +1 more source
Journal of Physiological Sciences, 2023 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.
Eiji Wada +4 more
doaj +1 more source
The Pathogenesis and Therapies of Striated Muscle Laminopathies
Frontiers in Physiology, 2018 Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD and ...
Astrid Brull +5 more
doaj +1 more source
The emerin-binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions [PDF]
PeerJ, 2013 Loss of function mutations in the nuclear inner membrane protein, emerin, cause X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). X-EDMD is characterized by contractures of major tendons, skeletal muscle weakening and wasting, and cardiac conduction ...
Michele A. Wozniak +3 more
doaj +2 more sources