|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Emerin was the first LINC component associated with a human disease, namely EDMD (Emery-Dreifuss muscular dystrophy).
|
22103509 |
2011 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
We therefore analyzed TMEM43, which encodes LUMA, a newly identified nuclear membrane protein and also a binding partner of emerin and lamins, to investigate whether LUMA may contribute to the pathomechanism of EDMD-related myopathy.
|
21391237 |
2011 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
So far, only 35% of EDMD cases are genetically elucidated and associated with EMD or LMNA gene mutations, suggesting the existence of additional major genes.
|
19716112 |
2009 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Autosomal forms of Emery-Dreifuss muscular dystrophy (AD-/AR-EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are caused by mutations in the gene encoding A-type lamins (LMNA).
|
19070492 |
2009 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 or emerin (EMD) located at Xq28.
|
19021551 |
2008 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The loci affected include mutations in both muscle-specific genes and genes that are more widely expressed such as LMNA and EMD, responsible for EDMD (Emery-Dreifuss muscular dystrophy).
|
19021553 |
2008 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation.
|
18266676 |
2008 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, disruptions in nesprin/lamin/emerin interactions might play a role in the muscle-specific pathogenesis of EDMD.
|
17761684 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD).
|
18646565 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we are the first to report that emerin mutations which give rise to X-linked Emery-Dreifuss muscular dystrophy, disrupt binding to both nesprin-1alpha and -2beta isoforms, further indicating a role of nesprins in the pathology of Emery-Dreifuss muscular dystrophy.
|
17462627 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This highlights the crucial role of lamin A/C-emerin interactions, with evidence for synergistic effects of these mutations that lead to Emery-Dreifuss muscular dystrophy as the worsened result of digenic mechanism in this family.
|
17536044 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy.
|
16904876 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
This highlights the crucial role of lamin A/C-emerin interactions, with evidence for synergistic effects of these mutations that lead to Emery-Dreifuss muscular dystrophy as the worsened result of digenic mechanism in this family.
|
17536044 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin.
|
17217858 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
LHGDN |
Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.
|
16761279 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene.
|
16403804 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
These data suggest that altered nuclear envelope elasticity caused by loss of emerin could contribute to increased nuclear fragility in Emery-Dreifuss muscular dystrophy patients with mutations in the emerin gene.
|
16997877 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement.Family history was noted in one case.
|
16804269 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
As we celebrate the 10th anniversary of the identification of emerin as a component of the nuclear envelope, I discuss here the available evidence that currently implicates EDMD as arising from perturbations in myogenic regulatory pathways, causing temporal delays in both cell cycle progression and muscle regeneration.
|
17013557 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These are termed laminopathies, with mutations in emerin causing Emery-Dreifuss muscular dystrophy.
|
16246140 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B).
|
15832002 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Emerin is the gene product of STA whose mutations cause Emery-Dreifuss muscular dystrophy.
|
16204256 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B).
|
15770669 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified 16 carriers (7 male and 9 female) with a nonsense mutation in exon 6 of the STA gene in 2 EDMD families.
|
15967842 |
2005 |