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FRG1 maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). Additionally we are shipping FSHD Region Gene 1 Antibodies (74) and many more products for this protein.
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Our results demonstrate that FRG1 is a direct DUX4 transcriptional target uncovering a novel regulatory circuit contributing to Facioscapulohumeral muscular dystrophy.
FRG1 mice overexpressing FHL1 (show FHL1 Proteins) showed an improvement in the dystrophic phenotype
This study suggests a novel role of FRG1 as epigenetic regulator of muscle differentiation and indicates that Suv4-20h1 (show SUV420H1 Proteins) has a gene-specific function in myogenesis.
depressed myoblast proliferation may contribute to the pathology of mice overexpressing FRG1 and may play a part in facioscapulohumeral muscular dystrophy
These data provide the first biochemical activities (actin binding and RNA binding) for human FRG1 and the characterization of the endogenous human FRG1, together indicating that FRG1 is involved in multiple aspects of RNA biogenesis.
in muscle FRG1 is a developmentally regulated sarcomeric protein suggesting FRG1 may perform a muscle-specific (show EIF3K Proteins) function
FRG1 transgenic mice develop a muscular dystrophy with features characteristic of the human disease; by contrast, FRG2 and ANT1 (show SLC25A4 Proteins) transgenic mice seem normal
differently from normal myoblasts, the 4qA/B marker interacted directly with the promoters of the FRG1 and ANT1 (show SLC25A4 Proteins) genes in Facio-Scapulo-Humeral Dystrophy cells
Data show that frg1 is expressed in and essential for the development of the tadpole musculature, and suggest that maintenance of normal FRG1 levels is critical for proper muscle development in frogs and humans.
study compared chromatin structure & tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells
FRG1 is involved in the morphogenesis of the tooth germ, as well as in the formation of enamel and dentin matrices and that FRG1 may play a role in the odontogenesis in the mouse following BMP4 (show BMP4 Proteins) stimulation.
Mouse Frg1 genomic area lacks DUX4 binding sites and DUX4 is unable to activate the endogenous mouse Frg1 gene providing a possible explanation for the lack of muscle phenotype in DUX4 transgenic mice.
On the basis of these results, it was proposed that aberrant fTnT represents a biological marker of muscle phenotype severity and disease progression.
our results suggest that a component of FSHD pathogenesis may arise by over-expression of FRG1, reducing Rbfox1 (show A2BP1 Proteins) levels and leading to aberrant expression of an altered Calpain 3 (show CAPN3 Proteins) protein through dysregulated splicing
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus.
FSHD region gene 1-like
, FSHD region gene 1
, protein FRG1
, FSHD region gene 1 protein
, facioscapulohumeral muscular dystrophy region gene-1