Recombinant Human FYVE, RhoGEF and PH domain-containing protein 1 (FGD1), partial

1. Sequencing analyses in numerous types of cancer have found missense mutations in the FGD1 gene in metastatic tumors. PMID: 27199457
2. 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. PMID: 28103835
3. Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel. PMID: 27544718
4. Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition. PMID: 24770546
5. 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. PMID: 24446295
6. branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome PMID: 23169394
7. Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome. PMID: 23443263
8. 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. PMID: 23211637
9. 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. PMID: 22854039
10. The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development. PMID: 22876573
11. This is the first report of inheritance by germline mosaicism for the FGD1 gene PMID: 21739585
12. These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis. PMID: 21356349
13. 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. PMID: 21212517
14. Mutations in the FGD1 gene is not associated with Aarskog syndrome. PMID: 20607856
15. analysis of nine novel mutations of the FGD1 gene in Aarskog-Scott syndrome PMID: 20082460
16. non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1 PMID: 11940089
17. alleles include one with an extra exon in intron 8 and one with an extra exon in intron 7, both with premature termination PMID: 15327482
18. a novel target of the SCF(FWD1/beta-TrCP) ubiquitin ligase PMID: 15743413
19. Neurobehavioral disorders are described in two unrelated boys with Aarskog-Scott syndrome affected by novel FGD1 mutations. PMID: 16688726
20. 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 PMID: 17847065
21. First case of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. PMID: 19110080
22. Findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis. PMID: 19141649
23. FGD1 is preferentially associated with the trans-Golgi network (TGN), suggesting its involvement in export of proteins from the Golgi. PMID: 19261807

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HGNC: 3663

OMIM: 300546

KEGG: hsa:2245

STRING: 9606.ENSP00000364277

UniGene: Hs.709201