|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The single nucleotide polymorphism (SNP) of the vangl1 gene is highly correlated with Neural Tube Defects (NTDs), a group of severe congenital malformations.
|
26914375 |
2016 |
|
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
These findings implicate VANGL1 as a risk factor in human neural-tube defects.
|
17409324 |
2007 |
|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs.
|
21840926 |
2011 |
|
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs.
|
19319979 |
2009 |
|
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
In 48 children with a neural tube defect and 62 controls from a Dutch case-control study and 34 children with a neural tube defect and 78 controls from a Texan case-control study, we measured the DNA-methylation levels of imprinted candidate genes (IGF2-DMR, H19, KCNQ1OT1) and non-imprinted genes (the LEKR/CCNL gene region associated with birth weight, and MTHFR and VANGL1 associated with NTD).
|
24223810 |
2013 |
|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q) and VANGL2 (R177H and R270H) in human cases of NTDs.
|
25068569 |
2014 |
|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs.
|
24407469 |
2014 |
|
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.
|
28369449 |
2017 |
|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His, that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases.
|
25208524 |
2015 |
|
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
|
20043994 |
2011 |
|
Craniorachischisis
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In mice, homozygosity for mutations in the Vangl1 and Vangl2 genes or combined heterozygosity for Vangl1/Vangl2 mutations causes the very severe neural tube defect (NTD) craniorachischisis.
|
25068569 |
2014 |
|
Meningomyelocele
|
0.110 |
Biomarker
|
disease |
BEFREE |
PCP rare putative mutations had a weaker role in myelomeningocele (SB), being found in approximately 6% of cases and cumulated across CELSR1, FUZ, FZD6, PRICKLE1, VANGL1, and VANGL2.
|
23024041 |
2012 |
|
Tumor Cell Invasion
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
PCP can signal through VANGL1 to modulate AP-1 target genes (e.g.MMP3) and induce invasion.
|
25204426 |
2014 |
|
Tumor Cell Invasion
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Thus, KITENIN increases invasion and migration of squamous cancer cells and thereby promotes distant metastasis in mouse squamous tumor models.
|
19166844 |
2009 |
|
Tumor Cell Invasion
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
The functional KITENIN complex acts as an executor with regard to cell motility and thereby controls CRC cell invasion, which may contribute to promoting metastasis.
|
18653728 |
2009 |
|
Tumor Cell Invasion
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
Here, through bioinformatic analyses and functional studies, we showed that miR-124, miR-27a, and miR-30b negatively regulate KITENIN expression and suppress the migration and invasion of several CRC cell lines via modulation of KITENIN expression.
|
24909917 |
2014 |
|
Tumor Cell Invasion
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Knockdown of KITENIN in HepG2 and Huh7 cells resulted in a significant reduction of tumor cell invasion.
|
21473287 |
2011 |
|
Tumor Cell Invasion
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
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.
|
25874746 |
2015 |
|
Tumor Cell Invasion
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
Thus, antitumor effects of KITENIN siRNA derives from both the generation of a tumor-specific immune response in vivo through increased 90K secretion from tumor cells and the suppression of tumor invasion in which PKCI is related to increased invasiveness.
|
16204073 |
2005 |
|
Tumor Cell Invasion
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
Through repressing miR-605-3p availability, circ-VANGL1 contributes to VANGL1 expression, consequently leading to BC cell proliferation, migration, and invasion.
|
30146736 |
2019 |
|
Neoplasms
|
0.070 |
AlteredExpression
|
group |
BEFREE |
In addition, tumor tissues from metastatic patients with colorectal cancer who showed initial poor responses to cetuximab/chemotherapy expressed higher levels of KITENIN than did responders to therapy.
|
24893630 |
2014 |
|
Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
Circular RNA VANGL1 (circVANGL1) is generated from two exons of the Van Gogh-like 1 (VANGL1) gene and serves as a tumor promoter by sponging certain microRNAs (miRNAs).
|
31758655 |
2020 |
|
Neoplasms
|
0.070 |
AlteredExpression
|
group |
BEFREE |
On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors.
|
12060845 |
2002 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
KITENIN was previously reported to promote metastasis in mouse colon tumour models; however, the signalling mechanism of KITENIN at the cellular level was unknown.
|
18653728 |
2009 |
|
Neoplasms
|
0.070 |
AlteredExpression
|
group |
BEFREE |
In a preliminary clinical study using resected tissues from head and neck SCC patients, KITENIN was highly expressed in tumors and metastatic lymph nodes, while KAI1 was more increased in adjacent mucosa than in tumor.
|
19166844 |
2009 |