|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date at least seven genes have been associated to EDMD with different inheritance patterns, being emerin gene responsible for the X-linked form of the disease.
|
31574358 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several murine models for EDMD have been generated; however, emerin-null (Emd) mice do not show obvious skeletal and cardiac muscle phenotypes, and Lmna H222P/H222P mutant (H222P) mice show only a mild phenotype in skeletal muscle when they already have severe cardiomyopathy.
|
31430335 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature.
|
31460960 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human <i>EMD</i> gene coding for emerin result in the rare genetic disorder: Emery⁻Dreifuss muscular dystrophy type 1 (EDMD1).
|
30871242 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study enriches the EMD gene mutation database and reminds us of the possibility of EDMD while encountering patients with severe heart rhythm defects or dilated cardiomyopathy of unknown etiology, even if they have neither obvious skeletal muscle disorder nor joint involvement.
|
30506906 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene.
|
29912636 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy.
|
29549040 |
2018 |
|
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 |
We have investigated Samp1 (Spindle Associated Membrane Protein 1), a transmembrane nuclear envelope protein, which interacts with emerin and lamin A, both of which are linked to Emery-Dreifuss muscular dystrophy (EDMD).
|
29192166 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this study is to elucidate the role of emerin in rat cardiomyocytes by means of hypertrophic stimuli and in EDMD induced pluripotent stem (iPS) cell-derived cardiomyocytes in terms of nuclear structure and the Ca<sup>2+</sup> transient.
|
28290476 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
|
29065506 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD).
|
28188262 |
2017 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures.
|
24825363 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a novel phenotype in EDMD.
|
25454731 |
2015 |
|
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 |
Our findings broaden the heterogeneous spectrum of phenotypes attributed to EMD mutations and provide new insight to explain the genotype-phenotype correlations between EMD mutations and EDMD symptoms.
|
24997722 |
2014 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These "muscle-specific" isoforms are thought to form a complex with emerin and lamin A/C at the inner nuclear membrane and mutations in all three proteins cause Emery-Dreifuss muscular dystrophy and/or inherited dilated cardiomyopathy, disorders in which only skeletal muscle and/or heart are affected.
|
24718612 |
2014 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This review will specifically focus on emerin function and the current thinking for how loss or mutations in emerin cause EDMD.
|
24365856 |
2014 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding nesprin-2) lead to autosomal dominant forms of the condition.
|
23456229 |
2013 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of human emerin causes Emery-Dreifuss muscular dystrophy (EDMD).
|
22171324 |
2012 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery-Dreifuss muscular dystrophy with mutation in the STA gene.
|
21993399 |
2012 |
|
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 |