Results 51 to 60 of about 283,904 (179)
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu +15 more
wiley +1 more source
The role of emerin and LEM domain proteins in nuclear envelope assembly and cytoskeleton organisation [PDF]
The nuclear envelope (NE) plays a fundamental role in the cell by separating nuclear from cytoplasmic activities, and mutations in NE proteins have been associated with a diverse array of diseases.
Saipingidou, Georgia +1 more
core
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source
Single Cell Mechanics in Disease Progression
Cells transmit distinct mechanical forces through ECM adhesion and cell–cell junctions and actomyosin‐generated traction forces are transmitted to the substrate through integrin‐based focal adhesions. Mechanical signals are further transmitted to the nucleus via the LINC complex, connecting the cytoskeleton to the nuclear lamina. These forces integrate
Sabin Kim +3 more
wiley +1 more source
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu +6 more
doaj +1 more source
Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects.
Michał Marchel +9 more
doaj +1 more source
Interactions between nuclear lamins and their binding partners in EDMD fibroblasts [PDF]
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
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 +4 more
doaj +1 more source
LMO7 Suppresses Tumor‐Associated Macrophage Phagocytosis of Tumor Cells Through Degradation of LRP1
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 +12 more
wiley +1 more source
Emery-Dreifuss muscular dystrophy: Case report
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 +6 more
openaire +2 more sources

