| 598115499 | Mutations in VANGL1 associated with neural-tube defects. | Kibar Z, etal., N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651. | Neural-tube defects such as anencephaly and spina bifida constitute a group of common congenital malformations caused by complex genetic and environmental factors. We have identified three mutations in the VANGL1 gene in patients with familial types (V239I and R 274Q) and a sporadic type (M328T) of the disease, including a spontaneous mutation (V239I) appearing in a familial setting. In a protein-protein interaction assay V239I abolished interaction of VANGL1 protein with its binding partners, disheveled-1, -2, and -3. These findings implicate VANGL1 as a risk factor in human neural-tube defects. | 17409324 | 2007-04-05 |
| 11565730 | A novel DNA biosensor integrated with Polypyrrole/streptavidin and Au-PAMAM-CP bionanocomposite probes to detect the rs4839469 locus of the vangl1 gene for dysontogenesis prediction. | Li Q, etal., Biosens Bioelectron. 2016 Jun 15;80:674-81. doi: 10.1016/j.bios.2016.02.025. Epub 2016 Feb 10. | The single nucleotide polymorphism (SNP) of the vangl1 gene is highly correlated with Neural Tube Defects (NTDs), a group of severe congenital malformations. It is hindered by the lack of a quantitative detection method. We first propose the use of a DNA biose nsor to detect the missense single nucleotide polymorphism (rs4839469 c.346G>A p.Ala116Thr) of the vangl1 gene in this work. Polypyrrole (PPy) and streptavidin were integrated to modify a gold electrode. We took advantage of the PPy's good biocompatibility and excellent conductivity. To further accelerate the electron transfer process at the electrode surface, polyamidoamine dendrimer-encapsulated gold nanoparticles (Au-PAMAM) were used, because Au-PAMAM possess a large number of amino groups to load capture probes (CP). Using the biotin-streptavidin system, the Au-PAMAM-CP bionanocomposite probe, which can detect the target DNA, was conjugated to the electrode surface. Under optimal conditions, the DNA biosensor exhibited a wide linear range of 0.1-100 nM with a low detection limit of 0.033 nM (S/N=3). The results suggest that this approach has the potential to be used in clinical research. | 26914375 | 2016-11-01 |
| 11556100 | A novel electrochemical immunosensor based on the rGO-TEPA-PTC-NH(2) and AuPt modified C(6)(0) bimetallic nanoclusters for the detection of Vangl1, a potential biomarker for dysontogenesis. | Chen Q, etal., Biosens Bioelectron. 2016 May 15;79:364-70. doi: 10.1016/j.bios.2015.12.063. Epub 2015 Dec 21. | The aberrant expression of Vangl1 is highly correlated with dysontogenesis, especially for neural tube defects. Therefore, the ultrasensitive detection of Vangl1 would provide a new approach for the specific early diagnostic s in dysembryoplasia. However, no quantitative detection method is currently available. Herein, we describe the development of a new approach to fill this assay gap. We utilized C60-templated AuPt bimetallic nanoclusters for signal amplification because the promising C60 nanomaterial provides a large surface area for the in site reduction of bimetallic nanocomposites as well as excellent conductivity. To further amplify the electrochemical signal, reduced graphene oxide-tetraethylene pentamine (rGO-TEPA) and a derivative of 3,4,9,10-perylenetetracarboxylicdianhydride (PTC-NH2) were selected for modification of the electrode to provide more amino groups for the immobilization of antibodies and to enhance the conductivity. The electrochemical signal was primarily derived from the catalysis of H2O2 by C60-AuPt. Chronoamperometry was applied to record the electrochemical signals. Under optimal conditions, the prepared immunosensor exhibited a wide linear range from 0.1 pg mL(-1) to 450 pg mL(-1) and a low detection limit of 0.03 pg mL(-1). Moreover, the proposed method exhibited good stability and recovery, suggesting its potential for use in clinical research. | 26735870 | 2016-10-01 |
| 11061392 | Downregulation of VANGL1 inhibits cellular invasion rather than cell motility in hepatocellular carcinoma cells without stimulation. | Cetin GO, etal., Genet Test Mol Biomarkers. 2015 Jun;19(6):283-7. doi: 10.1089/gtmb.2015.0014. Epub 2015 Apr 15. | AIMS: The Wnt planar cell polarity (PCP) pathway is one of the Wnt pathways which plays a critical role in cell proliferation and fate. The VANGL1 protein is one of Wnt-PCP pathway components. It is known that Wnt-PCP pathway has major roles in cell motility but its role in hepatocellular carcinoma (HCC) progression through invasion and metastasis needs to be clarified. METHODS: We silenced VANGL1 gene expression in the HepG2 HCC cell line by stable transfection with a vector containing siRNA template for VANGL1 and investigated the change in cell invasion and motility. RESULTS: Transfected cells with the siRNA template showed significantly suppressed invasive capacity when compared to controls although cellular motility was only slightly affected. CONCLUSION: Our study showed a basal role for VANGL1 with respect to the invasive capacity of HCC cells. This suggests that the Wnt-PCP pathway may play a role in progression of HCC through cellular invasion but further studies are needed to clarify its role in cell motility. | 25874746 | 2015-04-01 |
