Results 51 to 60 of about 4,510 (163)

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Cardiology Research and Practice, 2021
Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects.
Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Janusz Kochanowski, Julia Wysińska, Ewa Ostrowska, Paweł Balsam, Marcin Grabowski, Grzegorz Opolski   +9 more
doaj   +1 more source

Emery-Dreifuss muscular dystrophy: Case report

Revista Portuguesa de Cardiologia (English Edition), 2012
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-Linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances.
Fatima, Saraiva, Dina, Rodrigues, Helena, Andrade, Luís, Negrão, Lino, Gonçalves, António, Marinho, Luís A, Providência   +6 more
openaire   +2 more sources

LMO7 Suppresses Tumor‐Associated Macrophage Phagocytosis of Tumor Cells Through Degradation of LRP1

Advanced Science, Volume 13, Issue 35, 24 June 2026.
LMO7 in tumor‐associated macrophages suppresses phagocytosis of tumor cells and limits cytotoxic T lymphocytes infiltration, fostering tumor progression. Mechanistically, LMO7 mediates the ubiquitination and degradation of the phagocytic receptor LRP1, impairing its ability to engulf tumor cells and driving macrophages toward an antitumor phenotype ...
Mengkai Li, Tao Wang, Yuwen Zhong, Zhiming Wang, Wei Li, Zejian Wang, Xinyi Yang, Yu Qiao, Jianfeng Xiang, Wei Gu, Zishu Wang, Lei Sun, Feng Qian   +12 more
wiley   +1 more source

Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1

Stem Cell Research, 2021
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin.
Magdalena Machowska, Claudia Bearzi, Katarzyna Piekarowicz, Izabela Łaczmańska, Ryszard Rzepecki   +4 more
doaj   +1 more source

Nuclear Entanglement: New Insights Into the Role of Cytoskeleton and Nucleoskeleton in Plant Nuclear Function

Cytoskeleton, Volume 83, Issue 6, Page 354-375, June 2026.
ABSTRACT Of the three types of cytoskeleton known in animals—actin, microtubules, and intermediate filaments—only actin and microtubules exist in plants. Both play important roles in cellular shaping, organelle movement, organization of the endomembrane system, and cell signaling.
Norman R. Groves, Katelyn Amstutz, Lily A. Schumacher, Iris Meier   +3 more
wiley   +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, Sergi Cesar, Sergi Cesar, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Victori Fiol, Victori Fiol, Victori Fiol, Isaac Moll, Isaac Moll, Isaac Moll, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Carlos Ortez, Carlos Ortez, Laura Carrera, Laura Carrera, Jessica Expósito, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +47 more
doaj   +1 more source

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +1 more source

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

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, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +1 more source

Understanding Barriers to Participate in Specialized Neuromuscular Rehabilitation Experienced by People With Neuromuscular Diseases

Journal of Evaluation in Clinical Practice, Volume 32, Issue 4, June 2026.
ABSTRACT Rationale There are many types of neuromuscular diseases characterized by considerable variation in disease progression and functional abilities depending on the specific diagnosis, leading to an increased need for specialized rehabilitation across the lifespan.
Charlotte Handberg, Ulla Werlauff
wiley   +1 more source

Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy

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   +1 more source