|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X-linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures, and cardiomyopathy, manifesting as heart block.
|
11385714 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant).
|
12661041 |
2003 |
|
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 |
Biomarker
|
disease |
BEFREE |
Emerin is not essential, but its loss of function causes Emery-Dreifuss muscular dystrophy.
|
15037308 |
2004 |
|
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 |
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 |
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 |
Emerin is an inner nuclear membrane protein often mutated in Emery-Dreifuss muscular dystrophy.
|
30332321 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
A muscle biopsy from an Emery-Dreifuss muscular dystrophy (EMDM) patient showed complete absence of emerin by both Western blotting and immunohistochemistry, suggesting a simple diagnostic antibody test for EDMD families.
|
8776595 |
1996 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
|
8655156 |
1996 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
A rapamycin-based dimerization assay revealed correct transport of wild-type emerin to the INM, whereas TRC40-binding, membrane integration and INM-targeting of emerin mutant proteins that occur in EDMD was disturbed.
|
26675233 |
2016 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Both Emerin and LaminA/C interact with the nuclear envelope proteins Nesprin-1 and -2 and mutations in genes encoding C-terminal isoforms of Nesprin-1 and -2 have also been implicated in EDMD.
|
22555292 |
2012 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD).
|
28984111 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
|
25502304 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD.
|
10382909 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.
|
10092874 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Expression and subcellular distribution of emerin were studied in lymphoblastoid cell lines established from four patients with Emery-Dreifuss muscular dystrophy containing different mutations in the emerin gene.
|
9472006 |
1998 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Full-length emerin is completely absent in affected boys from the EDMD families studied.
|
9132142 |
1997 |
|
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 |
Genetic defects in emerin cause Emery-Dreifuss muscular dystrophy.
|
27960036 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic studies have now shown that people with mutations in either lamins A/C or emerin, a nuclear membrane protein, develop Emery-Dreifuss muscular dystrophy.
|
10740265 |
2000 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
|
9361031 |
1997 |