Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
We propose that the cell-cycle-promoting effect of folic acid compensates for the loss of Pax3 and thereby prevents cranial NTDs.
|
31636139 |
2019 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In the validation phase, significantly higher methylation levels in the body region of PAX3 were observed in NTD cases than in controls (P = 0.003).
|
30665459 |
2019 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
|
28043919 |
2017 |
Neural Tube Defects
|
0.400 |
AlteredExpression
|
group |
BEFREE |
In brain tissue, levels of PAX3 were significantly reduced in both encephalocele and spina bifida subtypes; the expression levels of cleaved caspase 3(17 kD) of encephalocele cases and cleaved caspase 8(47/45 kD) in spina bifida cases were higher than in controls; no difference was found in the expression of p53 or caspase 9 between NTDs and controls.
|
28786179 |
2017 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
The abnormal excessive O-GlcNAcylation of Pax3 may be responsible for the neural tube defects associated with hyperglycemia.
|
26738858 |
2017 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans.
|
28686331 |
2017 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Gross inner ear morphology was generally normal in Pax3(Cre/Cre) mutants, unless neural tube defects extended to the cranial region.
|
24565836 |
2014 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
The present study reinforces the hypothesis that PAX3 haploinsufficiency may be associated with neural tube defects in humans and suggests that the EPHA4 gene might be implicated during palate development.
|
24753315 |
2014 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Defects in splotch mice result from mutations in Pax3, and some human NTDs may also result from mutations in the human PAX3 gene.
|
19180568 |
2009 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We investigated the effect of folate level on risk of NTDs in splotch (Sp(2)(H)) mice, which carry a mutation in Pax3.
|
18753144 |
2008 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs.
|
17149730 |
2007 |
Neural Tube Defects
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Glucose and glucosamine inhibited expression of Pax-3, a gene required for neural tube closure both in vivo and in vitro, and increased neural tube defects (NTDs) in vivo; these effects were prevented by GSH ethyl ester.
|
15329829 |
2004 |
Neural Tube Defects
|
0.400 |
Therapeutic
|
group |
CTD_human |
This study examines interactions of a mutation in Pax3, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for neural tube defects and embryonic lethality.
|
12854658 |
2003 |
Neural Tube Defects
|
0.400 |
AlteredExpression
|
group |
LHGDN |
In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects.
|
12739027 |
2003 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
CTD_human |
This study examines interactions of a mutation in Pax3, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for neural tube defects and embryonic lethality.
|
12854658 |
2003 |
Neural Tube Defects
|
0.400 |
Therapeutic
|
group |
CTD_human |
In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects.
|
12739027 |
2003 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
CTD_human |
In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects.
|
12739027 |
2003 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Using polymorphic markers for MS, FR-beta, T, and PAX3, we were unable to demonstrate linkage disequilibrium with our NTD populations.
|
10332959 |
1999 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
The deoxyuridine suppression test detects disturbance of folate metabolism in homozygous splotch (Pax3) mouse embryos that are developing NTDs in vitro.
|
9641914 |
1998 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Although other etiologies have not been formally excluded, these patients raise the possibility of a digenic etiology of their NTDs via a genetic interaction of the deleted PAX3 gene with a second unidentified locus.
|
9482647 |
1998 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Our results support the hypothesis that mutations in the gene for PAX3 can predispose to NTD, but also show that, in general, mutations within or near the conserved domains of the PAX3 protein are only very infrequently involved in familial NTD.
|
7897628 |
1995 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
The observation that the PAX3 homozygote in humans may allow life at least in early infancy and does not cause neural tube defects was unexpected, since, in all the mutations known in mice (splotch), homozygosity has led to severe neural tube defects and intrauterine or neonatal death.
|
7726174 |
1995 |
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Seventeen US families and 14 Dutch families with more than one affected person with NTD were collected and 194 people (50 affected) from both data sets were genotyped using the PAX3 polymorphic marker.
|
7783169 |
1995 |
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
CTD_human |
Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube.
|
3293260 |
1988 |
Neural Tube Defects
|
0.400 |
Therapeutic
|
group |
CTD_human |
Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube.
|
3293260 |
1988 |