Results 51 to 60 of about 283,904 (171)
Advanced Science, Volume 13, Issue 37, 3 July 2026.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]
, 2005 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
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Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report) [PDF]
Arquivos de Neuro-Psiquiatria, 2000 We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes.
ALZIRA ALVES DE SIQUEIRA CARVALHO +5 more
doaj +1 more source
Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.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
Small Science, Volume 6, Issue 7, July 2026.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
Stem Cell ResearchLamin 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
Brain Pathology, Volume 36, Issue 4, July 2026.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.
Marc Pauper +17 more
wiley +1 more source
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
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 +4 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 +6 more
openaire +2 more sources