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Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel.
No significant association was observed between IDD (show COL9A3 Proteins) and allele or genotype frequencies, or the haplotype of the 5 SNPs of the FGD1 gene in the Chinese population.
branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome
Authors discuss the hypothesis that FGD1 might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings.
The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development.
This is the first report of inheritance by germline mosaicism for the FGD1 gene
These results demonstrate an important role for FGD1/Cdc42 (show CDC42 Proteins) signaling in human mesenchymal stem cells osteogenesis.
This study showed that the proline-rich doman of FGD1 is critical for persistent cell migration; FGD1 also augments EGF (show EGF Proteins)-stimulated c-Jun (show JUN Proteins) NH(2)-terminal kinase (JNK (show MAPK8 Proteins)) activation.
Mutations in the FGD1 gene is not associated with Aarskog syndrome.
analysis of nine novel mutations of the FGD1 gene in Aarskog-Scott syndrome
results identify Fgd1 as a TGF-beta (show TGFB1 Proteins)-regulated guanine exchange factor and, as such, the first guanine exchange factor to be involved in the process of cytokine-induced podosome formation
activation of MLK3 specifically by FGD1/CDC42 (show CDC42 Proteins) is important for skeletal mineralization
this study provides novel in vitro and in vivo evidence that Fgd1 specifically and directly interacts with cortactin and mAbp1, and that these interactions play an important role in regulating the actin cytoskeleton and, subsequently, cell shape.
FGD1 is preferentially associated with the trans-Golgi network (TGN (show TG Proteins)), suggesting its involvement in export of proteins from the Golgi.
This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.
FYVE, RhoGEF and PH domain-containing protein 3
, FYVE, RhoGEF and PH domain containing 1
, FYVE, RhoGEF and PH domain-containing protein 1
, faciogenital dysplasia 1 protein
, rho/Rac GEF
, rho/Rac guanine nucleotide exchange factor FGD1
, zinc finger FYVE domain-containing protein 3
, FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)
, faciogenital dysplasia 1 protein homolog