|
Abdominal wall muscle weakness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of cardiovascular system morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
|
8733123 |
1996 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We isolated a gene mapping 100 kb proximal to D4Z4 (FSHD Region Gene 1:FRG1), but were unable to detect any alterations in total or allele-specific mRNA levels of FRG1 in FSHD patients.
|
9166581 |
1997 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus so far, only one gene, FRG1 (FSHD region gene 1) has been identified from the FSHD candidate region on 4q35.
|
9132141 |
1997 |
|
Muscular Dystrophy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.
|
9166581 |
1997 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.
|
9714712 |
1998 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
We find that in muscle of FRG1 transgenic mice and FSHD patients, specific pre-mRNAs undergo aberrant alternative splicing.
|
16341202 |
2006 |
|
Muscular Dystrophy
|
0.030 |
Biomarker
|
disease |
BEFREE |
We find that FRG1 transgenic mice develop a muscular dystrophy with features characteristic of the human disease; by contrast, FRG2 and ANT1 transgenic mice seem normal.
|
16341202 |
2006 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
FRG1 is considered a candidate gene for facioscapulohumeral muscular dystrophy (FSHD) based on its location at chromosome 4qter and its upregulation in FSHD muscle.
|
17103222 |
2007 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Expression of FRG1 was not increased in patients with FSHD, either by microarray analysis or quantitative RT-PCR.
|
17151338 |
2007 |
|
Neuromuscular Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Intriguingly, among FRG1P-associated proteins are SMN and PABPN1, both being involved in neuromuscular disorders, possibly through RNA biogenesis-related processes.
|
17103222 |
2007 |
|
Muscle degeneration
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1.
|
17151338 |
2007 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The FRG1 promoter in both normal and FSHD myoblasts was characterized by H3K27 trimethylation and Polycomb repressor complex binding, but these repression signs were replaced by H3K4 trimethylation during differentiation.
|
19607661 |
2009 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, maintenance of normal FRG1 levels is critical for proper muscle development, supportive of FSHD disease models whereby misregulation of FRG1 plays a causal role underlying the pathology exhibited in FSHD patients.
|
19097195 |
2009 |
|
Muscular Dystrophy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Muscular dystrophy candidate gene FRG1 is critical for muscle development.
|
19097195 |
2009 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Together, these data further support a role for FRG1 overexpression in FSHD pathophysiology and reveal the previously unsuspected direct involvement of FRG-1 in muscle structure and integrity.
|
20215405 |
2010 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Using Xenopus laevis as a model for vertebrate development our lab has studied the effects of overexpression of the FSHD candidate gene ortholog, frg1 (FSHD region gene 1), showing that increased levels of frg1 systemically led specifically to an abnormal musculature and increased angiogenesis, the two most prominent clinical features of FSHD.
|
20490329 |
2010 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data do not support an FSHD model in which contracted D4Z4 arrays induce altered transcription in cis from 4q35 genes, even for those genes (FRG1, FRG2 and SLC25A4 (ANT1)) for which such an effect has been proposed.
|
19888305 |
2010 |
|
Myopathy
|
0.020 |
Biomarker
|
group |
BEFREE |
This is particularly intriguing because it places FRG-1 along side the list of dense-body components whose vertebrate orthologs are involved in the myriad myopathies associated with disrupted costameres and Z-disks.
|
20215405 |
2010 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
We tested the potential of adeno-associated viral (AAV)-delivered therapeutic microRNAs, targeting the human Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1), to correct myopathic features in mice expressing toxic levels of human FRG1 (FRG1(-high) mice).
|
21730972 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, FRG1 is the only FSHD candidate protein linked to the muscle contractile machinery and may address why the musculature and vasculature are specifically susceptible in FSHD.
|
20970242 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Overexpression of FRG1 causes features related to FSHD in transgenic mice and the FRG1 mouse is currently the only available mouse model of FSHD.
|
21829175 |
2011 |
|
Myopathy
|
0.020 |
Biomarker
|
group |
BEFREE |
We found that FRG1 gene silencing improved muscle mass, strength, and histopathological abnormalities associated with muscular dystrophy in FRG1(-high) mice, thereby demonstrating therapeutic promise for treatment of dominantly inherited myopathies using RNAi.
|
21730972 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
|
23720823 |
2013 |