|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28.
|
1998333 |
1991 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We report on a Japanese family affected by Emery-Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene.
|
9066362 |
1997 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We propose immunocytochemical evaluation of emerin expression in skin biopsies as a sensitive and more convenient tool for diagnosing X-linked EDMD and, in particular, for distinguishing it from the autosomal dominant form.
|
9266737 |
1997 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
|
9361031 |
1997 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
This shows that DNA analysis is necessary to exclude emerin mutations in suspected X-linked EDMD.
|
9536090 |
1998 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or emerinopathy), we screened the patients for mutations.
|
9829281 |
1998 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Western blot and immunohistochemistry show an absence of emerin in muscle and skin tissues and oral exfoliating cells in male patients with X-EDMD, and a reduction of the protein content with a mosaic expression pattern in female carriers.
|
10220866 |
1999 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy.
|
10428430 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.
|
10393813 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations spanning the emerin gene have been identified in patients with EDMD.
|
10323252 |
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 |
Biomarker
|
disease |
BEFREE |
These include the mislocalization of emerin, an inner nuclear membrane protein, defects in which are implicated in Emery-Dreifuss muscular dystrophy (EDMD), one of the three major X-linked dystrophies.
|
10579712 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The gene, STA at Xq28, for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated 'emerin', and in almost all cases on immunostaining is absent in muscle, skin fibroblasts, leucocytes and even exfoliative buccal cells, and a mosaic pattern in female carriers.
|
10838246 |
2000 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with the typical clinical findings of Emery-Dreifuss muscular dystrophy due to a mutation in the emerin gene that should have produced a higher molecular weight protein.
|
11053683 |
2000 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.
|
10757644 |
2000 |
|
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 |
Mutations in the STA gene, encoding the nuclear envelope protein emerin, are responsible for X-linked EDMD, while mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found in patients with autosomal dominant, autosomal recessive, and sporadic forms of EDMD.
|
11503164 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
|
11973618 |
2002 |