|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.
|
10480214 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, LAP1 also interacts with torsinA and emerin, proteins involved in DYT1 dystonia and X-linked Emery-Dreifuss muscular dystrophy disorder, respectively.
|
25461922 |
2014 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
|
10323252 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD).
|
11073359 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy.
|
11053683 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
|
9195226 |
1997 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, which is localized to the nuclear membrane.
|
9472006 |
1998 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the inner nuclear membrane protein emerin lead to X-linked Emery-Dreifuss muscular dystrophy, characterized by muscle weakness or wasting.
|
24252515 |
2014 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We infer that the EDMD1 phenotype may be strengthened by the toxicity of truncated emerin expressed in patients with certain nonsense mutations in <i>EMD</i>.
|
30871242 |
2019 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Emery-Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene.
|
10399752 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We show that the intranuclear organization of chromosomes is not altered in cells that lack the integral nuclear membrane protein emerin, from an individual with X-linked Emery--Dreifuss muscular dystrophy.
|
11159939 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the emerin gene have been associated with X-linked Emery-Dreifuss muscular dystrophy clinically defined by early joint contractures, progressive muscle weakness, and cardiomyopathy.
|
10533281 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in emerin, a nuclear membrane protein.
|
17067998 |
2006 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Emerin is a nuclear membrane protein which is affected by mutation in X-linked Emery-Dreifuss muscular dystrophy.
|
9731189 |
1998 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A few missense and short deletion mutations in the disordered region of emerin are also associated with X-EDMD.
|
31185657 |
2019 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy.
|
11369194 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss-of-function truncation mutations in EMD, encoding the nuclear membrane protein emerin, cause X-linked Emery-Dreifuss muscular dystrophy (EDMD) characterized by localized contractures and skeletal myopathy in adolescence, sinus node dysfunction (SND) in early adulthood, and atrial fibrillation as a variably associated trait.
|
18266676 |
2008 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region.
|
15880484 |
2005 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present here the relationship between emerin protein expression, nuclear localization and clinical phenotype for two distal mutations identified in unrelated EDMD patients.
|
10677860 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical variability of X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) with cardiac involvement in a four-generation family with a novel mutation in the STA gene.
|
11063761 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a single-membrane-spanning protein called emerin, which is localized to the inner nuclear membrane of all tissues studied.
|
10393813 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we describe the derivation of mice lacking emerin in an attempt to derive a mouse model for EDMD1.
|
16403804 |
2006 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 46-year-old patient with X-EDMD due to the known splice-site mutation c.449 + 1G>A in the emerin gene experienced palpitations for the first time at the age of 21 years, and a first syncope at the age of 23 years.
|
25502304 |
2015 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.
|
11470279 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
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 |