Emerin anchors Msx1 and its protein partners at the nuclear periphery to inhibit myogenesis
Background Previous studies have shown that in myogenic precursors, the homeoprotein Msx1 and its protein partners, histone methyltransferases and repressive histone marks, tend to be enriched on target myogenic regulatory genes at the nuclear periphery.
Zhangjing Ma +8 more
doaj +1 more source
Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide +13 more
core +2 more sources
Mutations in the gene encoding emerin cause Emery–Dreifuss muscular dystrophy (EDMD). Emerin is an integral inner nuclear membrane protein and a component of the nuclear lamina. EDMD is characterized by skeletal muscle wasting, cardiac conduction defects
Carol M. Collins +2 more
doaj +1 more source
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B +2 more
core +2 more sources
Emerin expression in tubular aggregates
Emerin is an inner nuclear membrane protein that is mutated or not expressed in patients with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD/EMD). Cytoplasmic localization of emerin in cultured cells or tissues has been reported, although this remains a controversial issue. Tubular aggregates (TAs) are pathological structures seen in the sarcoplasm
Manta, P. +4 more
openaire +3 more sources
Formation of the postmitotic nuclear envelope from extended ER cisternae precedes nuclear pore assembly [PDF]
During mitosis, the nuclear envelope merges with the endoplasmic reticulum (ER), and nuclear pore complexes are disassembled. In a current model for reassembly after mitosis, the nuclear envelope forms by a reshaping of ER tubules.
Anderson +48 more
core +4 more sources
Emerin Deletions Occurring on Both Xq28 Inversion Backgrounds [PDF]
Emery-Dreifuss muscular dystrophy (EMD) is an X-linked disorder characterized by contractures, progressive weakness and cardiomyopathy. EMD is caused by mutations in the 2 kb emerin gene that is located within human Xq28. Emerin is immediately distal to the 26 kb filamin gene, and flanking the filamin-emerin region are two large inverted repeats.
K, Small, S T, Warren
openaire +2 more sources
The effects of swimming training on N-cadherin, β-catenin and Emerin in cardiac left ventricle of male Wistar rat [PDF]
Background: Physical activity and exercise training plays a protective role against cardiovascular disease via reducing risk factors. Swimming as one of the best aerobic activity and exercise modality recommended for preventing and treatment of ...
Masoumeh Asadi +2 more
doaj +1 more source
Computational Characterization of the Role of LEM2/LaminA Interactions on the Stability of BAF-Dimer Using Molecular Simulations. [PDF]
ABSTRACT The effect of the presence of the BAF‐binding LEM‐domain and LaminA Ig‐fold on the stability of the BAF dimer was studied qualitatively using non‐equilibrium pull simulations and quantitatively through the calculation of the potential of mean force profile along BAF–BAF separation distance.
Muthachikavil AV +2 more
europepmc +2 more sources
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
Ashvin Iyer +2 more
doaj +1 more source

