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FYVE, RhoGEF and PH domain containing 1

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.[provided by RefSeq, Mar 2011] (from NCBI)
Top mentioned proteins: Cdc42, Rhodopsin, GEF, CAN, ACID
Papers using FGD1 antibodies
betaPIX controls cell motility and neurite extension by regulating the distribution of GIT1
Kim Eung-Gook et al., In The Journal of Cell Biology, 2005
... Anti-myosin, Tiam1, Dbl, LARG, FGD1, and Trio antibodies were purchased from Santa Cruz Biotechnology, Inc ...
Papers on FGD1
Substrate selectivity of lysophospholipid transporter LplT involved in membrane phospholipid remodeling in Escherichia coli.
Zheng et al., Houston, United States. In J Biol Chem, Dec 2015
Our results show that lyso-PE and lyso-PG, but not lyso-PC, are taken up by LplT for reacylation by acyltransferase/acyl-ACP synthetase (Aas) on the inner leaflet of the membrane.
Lumbar ribs: a comprehensive review.
Tubbs et al., Seattle, United States. In Childs Nerv Syst, Oct 2015
Mutations of the FGD1 or Hox10 gene may be involved in the development of lumbar ribs.
Essential Role of Acyl-ACP Synthetase in Acclimation of the Cyanobacterium Synechococcus elongatus Strain PCC 7942 to High-Light Conditions.
Omata et al., Nagoya, Japan. In Plant Cell Physiol, Aug 2015
Most organisms capable of oxygenic photosynthesis have an aas gene encoding an acyl-acyl carrier protein synthetase (Aas), which activates free fatty acids (FFAs) via esterification to acyl carrier protein.
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
Martínez-de-Villarreal et al., Monterrey, Mexico. In Mol Genet Genomic Med, May 2015
AAS is caused by mutations in the FGD1 gene (Xp11.22),
A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
Devriendt et al., Leuven, Belgium. In Am J Med Genet A, 2014
encompassing FGD1, FAM120C, and PHF8.
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
Kress et al., Göttingen, Germany. In Eur J Pediatr, 2014
UNLABELLED: Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene.
Improving the tolerance of Escherichia coli to medium-chain fatty acid production.
Bowie et al., Los Angeles, United States. In Metab Eng, 2014
Here we find that membrane lipid composition can be altered by the direct incorporation of medium-chain fatty acids into lipids via the Aas pathway in cells expressing the medium-chain thioesterase from Umbellularia californica (BTE).
No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
Gao et al., Xi'an, China. In Genet Mol Res, 2013
FGD1 encoding a guanine nucleotide exchange factor, specifically activates Rho GTPase cell division cycle 42 (Cdc42).
Mutational analysis of the GNA11, MMP27, FGD1, TRRAP and GRM3 genes in thyroid cancer.
Xing et al., Baltimore, United States. In Oncol Lett, 2013
Frequent somatic mutations in the GNA11, matrix metalloproteinase (MMP)27, FGD1, TRRAP and GRM3 genes have been reported in various types of human cancer, but whether these genes are mutated in thyroid cancer is not known.
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
Meyer et al., Riyadh, Saudi Arabia. In Clin Dysmorphol, 2013
The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy.
A novel mutation in a mother and a son with Aarskog-Scott syndrome.
Böber et al., İzmir, Turkey. In J Pediatr Endocrinol Metab, 2012
The gene responsible for the syndrome is called FGD1, located at Xp11.21.
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
Hoogeboom et al., Venray, Netherlands. In Genet Couns, 2011
The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development.
MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
Glimcher et al., Boston, United States. In J Clin Invest, 2011
activation of MLK3 specifically by FGD1/CDC42 is important for skeletal mineralization
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
Alfares et al., Montréal, Canada. In Am J Med Genet A, 2011
This is the first report of inheritance by germline mosaicism for the FGD1 gene
The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
Chen et al., Philadelphia, United States. In Am J Pathol, 2011
These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis.
Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration.
Hayakawa et al., Hachiōji, Japan. In Biol Pharm Bull, 2010
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.
Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane.
Takai et al., Kumamoto, Japan. In J Cell Mol Med, 2008
Frabin, together with, at least, FGD1, FGD2, FGD3 and FGD1-related Cdc42-GEF (FRG), is a member of a family of Cdc42-specific gua-nine nucleotide exchange factors (GEFs).
[Non-specific X-linked mental retardation].
Martínez-Castellano, Valencia, Spain. In Rev Neurol, 2006
Moreover, genes such as OPHN1, PAK3, ARHGEF6, FGD1 or TM4SF2 code for proteins that interact with rho GTPases, and play a role in the transmission of signals that regulate the development of axons and dendrites.
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.
Gorski et al., Ann Arbor, United States. In Cell, 1994
These results provide compelling evidence that FGD1 is responsible for FGDY and suggest that FGD1 is a Rho/RacGEF involved in mammalian development.
Eosinophilic inflammation in asthma.
Godard et al., Montpellier, France. In N Engl J Med, 1990
In an attempt to evaluate the role of eosinophilic inflammation in asthma, we compared 10 normal subjects with 43 patients with chronic asthma, 19 of whom had severe disease as assessed by a clinical scoring method described by Aas and by pulmonary-function tests.
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