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FGD4 c.2044-236 A-allele carriers had an increased risk of paclitaxel dose reduction (HR per A-allele=1.38, P=0.036) when adjusted for total cumulative paclitaxel dose
identified two different pairs of novel compound heterozygous mutations in the FGD4 gene from nonconsanguineous Korean Charcot-Marie-Tooth disease type 4H families
Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent.
A single nucleotide polymorphism in FGD4 was associated with the onset of paclitaxel-induced sensory peripheral neuropathy.
LMP1 (Montrer PDLIM7 Protéines), through its transmembrane domains, directly bound FGD4 and enhanced FGD4 activity toward Cdc42 (Montrer CDC42 Protéines), leading to actin cytoskeleton rearrangement and increased motility of NPC (Montrer NPC1 Protéines) cells.
we have identified two novel missense mutations in FGD4 in two patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease
role of frabin, a guanine nucleotide exchange factor (Montrer RASGRF1 Protéines) specific for Cdc42 (Montrer CDC42 Protéines), in the activation of Cdc42 (Montrer CDC42 Protéines) during Cryptosporidium parvum infection of biliary epithelial cells
The identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in families with Charcot-Marie-Tooth type 4H.
We report that disruption of frabin/FGD4, a GEF (Montrer SLC2A4RG Protéines) for the Rho GTPase (Montrer RACGAP1 Protéines) cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy.
A novel homozygous Frabin (FGD4) nonsense mutation p.R275X is identified in a family with Charcot-Marie Tooth disease (CMT4H) from Northern Ireland.
The enrichment of activated Cdc42 (Montrer CDC42 Protéines) in SSeCKS-null leading edge filopodia correlated with recruitment of the Cdc42 (Montrer CDC42 Protéines)-specific guanine nucleotide exchange factor (Montrer ARHGEF12 Protéines), Frabin.
This study demonistrated that the disease-initiating event in CMT4H is loss of a Schwann cell-specific cellular function of Frabin/Fgd4.
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system.
FGD1 family, member 4
, FGD1-related F-actin-binding protein
, FYVE, RhoGEF and PH domain-containing protein 4
, actin-filament binding protein frabin
, zinc finger FYVE domain-containing protein 6
, Fgd1-related F-actin-binding protein
, actin filament-binding protein frabin