|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
|
23720823 |
2013 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells.
|
23525014 |
2013 |
|
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 |
GeneticVariation
|
disease |
ORPHANET |
Consistent with this, Rbfox1 expression is down-regulated in mice and cells over-expressing FRG1 as well as in FSHD patients.
|
23300487 |
2013 |
|
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 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Recurrently mutated cancer driver genes included FRG1 (6/6), CDC27, NCOR1, PRSS1 (5/6), AHCTF1, MUC20, PABPC1, and PABPC3 (4/6).
|
29571661 |
2018 |
|
Crohn Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The terminal deletion in 4q35.2 contains other OMIM genes (FRG1, FRG2 and DBET); moreover, the 4q region is reported as a susceptibility locus for Crohn's disease, diagnosed in the proband's father.
|
26645620 |
2015 |
|
Primary malignant neoplasm
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Recurrently mutated cancer driver genes included FRG1 (6/6), CDC27, NCOR1, PRSS1 (5/6), AHCTF1, MUC20, PABPC1, and PABPC3 (4/6).
|
29571661 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transgenic mice overexpressing FRG1 recapitulate the FSHD muscular dystrophy phenotype.
|
25695429 |
2015 |
|
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, 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, 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 |
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 |
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 |
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a candidate gene for FSHD.
|
28947680 |
2017 |
|
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, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
Approximately 75% of FSHD patients also show vascular abnormalities indicating that FRG1 might have some part to play in these abnormalities.
|
28569257 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.400 |
Biomarker
|
disease |
BEFREE |
To better understand the pathways affected in FSHD by DUX4-fl and FRG1, we generated transgenic lines of Drosophila expressing either gene under control of the UAS/GAL4 binary system.
|
26942723 |
2016 |
|
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 |
|
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 |
|
Facioscapulohumeral muscular dystrophy 1a
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Facial paralysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lordosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|