PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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