-
The mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract.
-
The functional analysis of these 2 PITX3 mutations in the in vitro functional studies is an important complement and extension, which provides a potential interpretation for the pathogenesis and molecular mechanism of PITX3 mutations associated with CC.
-
Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects.
-
Results show that a common polymorphism in the PITX3 gene affects the risk of developing Parkinson's disease (PD) dementia and visuospatial dysfunction in idiopathic PD. If validated, these findings can provide new insights into the neurobiology and genetics of non-motor symptoms in PD.
-
Study showed that PITX3 methylation was significantly methylated in head and neck squamous cell carcinoma (HNSCC) tumor compared to normal adjacent tissue and correlated with lymph node status. These results provide evidence that PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with HNSCC and might aid in the process of risk stratification for individualized treatment.
-
Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa.
-
These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family.
-
PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population.
-
novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype
-
Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease
-
our data demonstrate that key midbrain dopamine regulators (Nurr1, Pitx3, and Lmx1a) play overlapping as well as distinct roles during neurogenesis and neurotransmitter phenotype determination of mDA neurons
-
the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population.
-
Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population.
-
Presence of the rs4919621 allele A in PITX3 significantly increases the risk of Parkinson's disease (PD) patients in a Caucasian population, while rs2281983 allele C and rs4919621 allele A were both risk factors in early onset PD.
-
This study provided that NURR1 and PITX3 gene expression is decreased in the peripheral blood lymphocytes of Chinese patients with Parkinson's disease patients.
-
novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population.
-
Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome.
-
Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively.
-
The results of this study suggested that these PITX3 SNPs do not contribute to the risk of developing PD in EOPD or LOPD in Chinese.
-
The single nucleotide polymorphism rs3758549 (C >T substitution) in the Pitx3 gene is a potential risk for sporadic Parkinson disease (PD), especially early-onset PD in Chinese Han population.