Results 81 to 90 of about 6,801 (167)

Myonuclear alterations associated with exercise are independent of age in humans

open access: yesThe Journal of Physiology, Volume 603, Issue 13, Page 3755-3775, 1 July 2025.
Abstract figure legend Structural and mechanical properties of myonuclei in trained young and aged individuals. In skeletal muscle fibres from trained individuals, myonuclei are more spherical, have greater lamin A and are stiffer compared to untrained counterparts.
E. Battey   +15 more
wiley   +1 more source

A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death

open access: yesPharmacogenomics and Personalized Medicine, 2019
Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4 1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China ...
Kong D   +8 more
doaj  

Emerin increase in regenerating muscle fibers

open access: yesEuropean Journal of Histochemistry, 2009
The fate of emerin during skeletal muscle regeneration was investigated in an animal model by means of crush injury. Immunofluorescence, immunoblotting and mRNA analysis demonstrated that emerin level is increased in regenerating rat muscle fibers with ...
S Squarzoni   +5 more
doaj   +1 more source

Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

open access: yes, 2005
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano   +6 more
core   +3 more sources

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

open access: yesJournal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller   +7 more
wiley   +1 more source

The SUV39 Family of H3K9 Methyltransferases in Skeletal Muscle Stem Cells

open access: yesFASEB BioAdvances, Volume 7, Issue 6, June 2025.
The SUV39 family members are well known for methylating the Lysine 9 of the histone H3 (H3K9) in order to compact the chromatin and contributing to gene repression. We describe their active role in proliferating and differentiating muscle stem cells, how they prevent from inflammation and fibrosis during muscle regeneration and the future avenues ...
Pauline Garcia   +2 more
wiley   +1 more source

Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins [PDF]

open access: yes, 2018
Laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. A little investigated hypothesis to explain this is that the mutated proteins or their partners have tissue-specific splice variants.
Capitanchik, Charlotte   +5 more
core   +2 more sources

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis

open access: yesHealth Expectations, Volume 28, Issue 3, June 2025.
ABSTRACT Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management.
Homira Osman   +6 more
wiley   +1 more source

Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles [PDF]

open access: yes, 2016
In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including ...
Alameddine, HS, Morgan, JE
core   +1 more source

The role of inner nuclear membrane protein emerin in myogenesis

open access: yesThe FASEB Journal, Volume 39, Issue 7, 15 April 2025.
Emerin function is critical for proper genome reorganization and temporal gene expression necessary for terminal myogenic differentiation. Emerin interacts with both HDAC3 and histone methyltransferases (HMTs) to organize chromatin at the inner nuclear membrane.
Nicholas Marano, James M. Holaska
wiley   +1 more source

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