Results 1 to 10 of about 1,977 (129)

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

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

Redox Biology
LMNA mutation related Emery-Dreifuss muscular dystrophy (LMNA-related EDMD), is a rare genetic disorder often involving life‐threatening cardiac complications.
Hangping Fan, Zongkuai Yang, Hangying Ying, Jiuxiao Zhao, Xiaochen Wang, Junhao Gong, Lingying Li, Xujie Liu, Tingyu Gong, Qing Ke, Lenan Zhuang, Ping Liang   +11 more
doaj   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. [PDF]

Brain Pathol
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Pauper M, Kölbel H, Karakesisoglou I, Schänzer A, Böhm J, Thompson R, Kohlschmidt N, Ringel B, Bonne G, Neuhoff K, Gangfuß A, Kilicarslan OA, Agullo SB, Hentschel A, Schara-Schmidt U, Lochmüller H, Polavarapu K, Roos A.   +17 more
europepmc   +2 more sources

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Shimazaki R, Noguchi S, Takizawa H, Oya Y, Takahashi Y, Komaki H, Arahata H, Hayashi S, Nishino I.   +8 more
europepmc   +2 more sources

Muscle-Specific Kinase Signaling and Its Therapeutic Potential. [PDF]

Muscle Nerve
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Jensen SM, Vergoossen DLE, Huijbers MG.
europepmc   +2 more sources

Study of the Hypergeometric Equation via Data Driven Koopman-EDMD Theory

Axioms, 2023
We consider a data-driven method, which combines Koopman operator theory with Extended Dynamic Mode Decomposition. We apply this method to the hypergeometric equation which is the Fuchsian equation with three regular singular points.
John Leventides, Costas Poulios, Elias Camouzis   +2 more
exaly   +3 more sources

Data-driven analysis of fine-scale badger movement in the UK. [PDF]

PLoS Computational Biology
Understanding animal movements at different spatial scales presents a significant challenge as their patterns can vary widely from daily foraging behaviours to broader migration or territorial movements.
Jessica R Furber, Richard J Delahay, Ruth Cox, Rosie Woodroffe, Maria O'Hagan, Naratip Santitissadeekorn, Stefan Klus, Giovanni Lo Iacono, Mark A Chambers, David J B Lloyd   +9 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

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