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Cow (Bovine) Polyclonal FGD1 Primary Antibody for WB - ABIN2780596
Bottani, Orrico, Galli, Karam, Haenggeli, Ferey, Conrad: Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. in American journal of medical genetics. Part A 2007
Show all 2 Pubmed References
Sequencing analyses in numerous types of cancer have found missense mutations in the FGD1 gene in metastatic tumors.
A novel variant in FGD1 (a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous) was found in an Emirati family with two brothers suffering from Aarskog-Scott syndrome. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates.
Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel.
Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition.
No significant association was observed between IDD 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
Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome.
A novel mutation in exon 6 (G1341A substituting tryptophan with a stop codon at amino acid position 447) may have influenced the clinical phenotype of these 5 patients with 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 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-stimulated c-Jun NH(2)-terminal kinase (JNK) 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
non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1
alleles include one with an extra exon in intron 8 and one with an extra exon in intron 7, both with premature termination
a novel target of the SCF(FWD1/beta-TrCP) ubiquitin ligase
Neurobehavioral disorders are described in two unrelated boys with Aarskog-Scott syndrome affected by novel FGD1 mutations.
Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases
activation of MLK3 specifically by FGD1/CDC42 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), suggesting its involvement in export of proteins from the Golgi.
results identify Fgd1 as a TGF-beta-regulated guanine exchange factor and, as such, the first guanine exchange factor to be involved in the process of cytokine-induced podosome formation
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 1
, faciogenital dysplasia 1 protein
, rho/Rac GEF
, rho/Rac guanine nucleotide exchange factor FGD1
, zinc finger FYVE domain-containing protein 3
, faciogenital dysplasia 1 protein homolog
, FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)
, FYVE, RhoGEF and PH domain containing 1
, faciogenital dysplasia protein