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FRAS1 encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Additionally we are shipping FRAS1 Antibodies (18) and many more products for this protein.
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In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
Analysis of FRAS1 and STRA6 mutations in the same family with eye anomalies.
First case of a family with two patients affected by Fraser syndrome due to a deletion of 64 kb (deletion 4q21.21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene.
Heterozygous missense mutations in FRAS1 cause non-syndromic congenital abnormalities of the kidney and urinary tract in humans.
molecular, clinical findings of 4 fetuses with Fraser syndrome from 2 families; in family one, found nonsense mutation (c.3730C>T, p.R1244X) previously described; in family 2 found a novel nonsense mutation previously not known (c.370C>T, p.R124X)
Locus FS1 at chromosome 4q21 is associated with Fraser syndrome. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel proteins related to an extracellular matrix (ECM) protein found in sea urchin.
In this review, recent studies support direct interactions between Fras1 and Frem proteins and shed new light on their role in the regulation of epidermal-basement membrane adhesion and organogenesis during development.
Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxhyl tail of Fras1.
11 new mutations in FRAS1 were identified in families with Fraser syndrome.
The close correlation between limb bud epidermal blistering, decreased Msx2 expression, and reduced ICD in the Fras1(rdf) hindlimb buds suggests that epithelium detachment from the mesenchyme may create a physical gap that interrupts the transmission of BMP, among other signals, resulting in soft tissue syndactyly.
the role of Fras1 in development
Targeted deletion of Fras1 in kidney podocytes circumvented skin blistering, renal agenesis, and early death.
Report Fras1 up-regulation/Frem down-regulation in nephrons from mice with polycystic kidney disease and Frem2 mutations.
The QBRICK, together with Fras1, defines the ability of BMs to bind integrin 81 through modulating the BM assembly of nephronectin, thereby regulating the integrin 81-mediated signals transmitted from the ureteric buds to the metanephric mesenchyme.
Screened DNA from bl/bl mice and identified a premature termination of mouse Fras1. Thus, the bl mouse is a model for Fraser syndrome in humans.
QBRICK/Frem1, Fras1, and Frem2 interactions at the basement membrane have roles in preventing Fraser syndrome-like defects
Taken together, our findings indicate that besides a cooperative function with Fras1 in embryonic basement membranes, Frem1 can also act independently in processes related to epidermal differentiation.
Study reports the immunofluorescence pattern of Frem3 and a comparative analysis of the spatiotemporal localization of all Fras1/Frem proteins during mouse embryonic development.
Fras1 is not only essential as a component of a macromolecular complex for the extracellular stabilization of Frem2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells.
The localization pattern of Fras1 and Frem2 was indistinguishable, while both proteins along with Frem3 could be detected even in the absence of Frem1.
Fras1 is expressed in the branching ureteric bud; renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background.
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants.
extracellular matrix protein FRAS1
, Fraser syndrome 1 protein