Results 11 to 20 of about 8,752 (229)

Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy. [PDF]

J Clin Invest, 2023
Mutations in genes encoding nuclear envelope proteins lead to diseases known as nuclear envelopathies, characterized by skeletal muscle and heart abnormalities, such as Emery-Dreifuss muscular dystrophy (EDMD).
Zhang Y, Ramirez-Martinez A, Chen K, McAnally JR, Cai C, Durbacz MZ, Chemello F, Wang Z, Xu L, Bassel-Duby R, Liu N, Olson EN.   +11 more
europepmc   +2 more sources

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees. [PDF]

Hum Mol Genet, 2023
Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Previous attempts to use gene expression changes find its pathomechanism were unavailing, so we here engaged a functional pathway analysis.
de Las Heras JI, Todorow V, Krečinić-Balić L, Hintze S, Czapiewski R, Webb S, Schoser B, Meinke P, Schirmer EC.   +8 more
europepmc   +2 more sources

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

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   +2 more sources

Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report. [PDF]

Front Neurol, 2023
Introduction Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (EYA4) gene, a transcription factor related to ...
Zambrano AK, Paz-Cruz E, Cadena-Ullauri S, Guevara-Ramírez P, Ruiz-Pozo VA, Tamayo-Trujillo R, Ibarra-Castillo R, Laso-Bayas JL, Doménech N, Ibarra-Rodríguez AA, Hidalgo R.   +10 more
europepmc   +2 more sources

Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy. [PDF]

Mol Genet Genomic Med, 2023
Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly. The presence
Xie Y, Luo J, Zhong J, Liu X, Tang J, Lan D.   +5 more
europepmc   +2 more sources

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. [PDF]

Eur Heart J Case Rep, 2023
Background Heart disease is an under-recognized cause of morbidity and mortality in patients with Emery-Dreifuss muscular dystrophy (EDMD). Arrhythmias and conduction delays are highly prevalent and given the rarity of this disease the patient care ...
Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY.   +5 more
europepmc   +2 more sources

Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. [PDF]

Cells
In muscle cells subjected to mechanical stimulation, LINC complex and cytoskeletal proteins are basic to preserve cellular architecture and maintain nuclei orientation and positioning. In this context, the role of lamin A/C remains mostly elusive.
Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E.   +7 more
europepmc   +2 more sources

Effect of nutritional therapy in Emery-Dreifuss muscular dystrophy: a case report. [PDF]

Front Nutr
Emery–Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle atrophy and weakness, multi-joint contractures with spine rigidity, and cardiomyopathy ...
Valoriani F, Pinelli G, Gabriele S, Menozzi R.   +3 more
europepmc   +2 more sources

iPSC-derived cardiomyocytes and engineered heart tissues reveal suppressed JAK2/STAT3 signaling in LMNA-related emery-dreifuss muscular dystrophy. [PDF]

Redox Biol
LMNA mutation related Emery-Dreifuss muscular dystrophy (LMNA-related EDMD), is a rare genetic disorder often involving life-threatening cardiac complications.
Fan H, Yang Z, Ying H, Zhao J, Wang X, Gong J, Li L, Liu X, Gong T, Ke Q, Zhuang L, Liang P.   +11 more
europepmc   +2 more sources

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report [PDF]

BMC Pediatrics, 2022
Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai   +9 more
doaj   +2 more sources