Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida.
|
26368655 |
2015 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
The planar cell polarity (PCP) genes CELSR1, CELSR2, VANGL1, and VANGL2 have been implicated in NTD; these genes have roles in neural tube closure and ependymal ciliary movement.
|
26227058 |
2015 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Here, we present the results of VANGL1 and VANGL2 mutational screening in a series of 53 NTD patients and 27 couples with a previous NTD affected pregnancy.
|
25208524 |
2015 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
We also show that Lrp6(Skax26-Jus) genetically interacts with a PCP mutant (Vangl2(Lp)) where double heterozygotes showed an increased frequency of NTDs and defects in cochlear hair cells' polarity.
|
24203697 |
2014 |
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 |
Biomarker
|
group |
BEFREE |
This Vangl2(m1Yzcm) mouse represents a valuable model for the study of NTDs in humans.
|
23359061 |
2013 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Planar Cell Polarity (PCP) core gene Vangl2 cause the most severe neural tube defects (NTD) in mice and humans.
|
23029439 |
2012 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
Although limited genetic interaction for NTDs was seen with Vangl2, a microarray analysis of PCP genes did not reveal a direct connection to this pathway.
|
21246654 |
2011 |
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 |
Our findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations.
|
20738329 |
2011 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Loop-tail (Lp) mice show a very severe neural tube defect (craniorachischisis) caused by mutations in the Vangl2 gene (D255E, S464N).
|
20329788 |
2010 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
CTD_human |
Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse.
|
2373757 |
1990 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Anencephaly
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
VANGL2 mutations in human cranial neural-tube defects.
|
20558380 |
2010 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
VANGL2 mutations in human cranial neural-tube defects.
|
20558380 |
2010 |
Anencephaly
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Sacral agenesis
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Sacral agenesis
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
Craniorachischisis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida.
|
26368655 |
2015 |
Craniorachischisis
|
0.350 |
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 |
Craniorachischisis
|
0.350 |
Biomarker
|
disease |
BEFREE |
This could be mediated via heparan sulfate residues, as Vangl2(Lp/+) embryos fail to initiate neural tube closure and develop craniorachischisis (usually seen only in Vangl2(Lp/Lp)) when cultured in the presence of chlorate, a sulfation inhibitor.
|
23760952 |
2013 |
Craniorachischisis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mouse models indicate that the homozygous disruption of Sec24b, which mediates the ER-to-Golgi transportation of the core PCP gene Vangl2 as a component of the COPII vesicle, will result in craniorachischisis.
|
23592378 |
2013 |
Craniorachischisis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The Loop-tail (Lp) mouse that develops craniorachischisis carry missense mutations in the PCP core gene Vangl2, that is the mammalian homolog of the Drosophila Strabismus/Van gogh (Stbm/Vang).
|
21674647 |
2012 |
Craniorachischisis
|
0.350 |
Biomarker
|
disease |
CTD_human |
Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse.
|
2373757 |
1990 |