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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
|
29349559 |
2018 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
|
26247046 |
2015 |
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 |
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin.
|
26415001 |
2015 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
|
19997654 |
2009 |
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 |
CausalMutation
|
disease |
CLINVAR |
Limb-girdle muscular dystrophy due to emerin gene mutations.
|
17620497 |
2007 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
|
15967842 |
2005 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
|
15009215 |
2004 |
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Emery-Dreifuss muscular dystrophy is caused by loss of emerin, a LEM-domain protein of the nuclear inner membrane.
|
15328537 |
2004 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Emery-Dreifuss muscular dystrophy is usually caused by absence of the nuclear membrane protein, emerin, due to nonsense mutations or deletions, but a few missense mutations also exist.
|
11587540 |
2001 |
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 |
Biomarker
|
disease |
BEFREE |
Emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD).
|
11073359 |
2000 |