PITX3 Recombinant Monoclonal Antibody

1. 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. PMID: 28991698
2. 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. PMID: 28174607
3. These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family. PMID: 28249924
4. PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population. PMID: 27145793
5. novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype PMID: 24555714
6. Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease PMID: 24525476
7. the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population. PMID: 24394914
8. Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator) PMID: 11994226
9. Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population. PMID: 23694789
10. 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. PMID: 22429667
11. novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population. PMID: 22411443
12. Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome. PMID: 22223473
13. Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively. PMID: 21836522
14. 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. PMID: 22037506
15. 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. PMID: 21138504
16. This study found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease. PMID: 21469209
17. Allele & genotype frequencies did not differ between patients & controls for rs2281983, rs4919621, & rs3758549. These SNP sites do not contribute to the risk of developing PD in late-onset sporadic PD in this Chinese population. PMID: 21565251
18. The 542delC is a novel mutation in PITX3 causing an isolated posterior polar cataract. PMID: 21633712
19. This study suggested that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of Parkinson's disease in chinese. PMID: 21524731
20. PITX3 may play a role in the pathogenesis of Parkinson disease. PMID: 19394114
21. The result of this study found a strong association between the PITX3 promoter rs3758549 polymorphism and Parkinson's disease. PMID: 19345444
22. Genetic variation in PITX3 may increase the risk of developing schizophrenia. PMID: 20570600
23. The A-allele of a HapMap tagging SNP (rs4919621) that was genotyped in a population of Parkinson's disease (PD) patients, was significantly more common in PD patients with an early age of onset. PMID: 18420308
24. The absence of PITX3 mutations in a family presenting congenital cataract and mental retardation, is reported. PMID: 20376326
25. A family with posterior polar cataract with a novel deletion mutation in PITX3. PMID: 15286169
26. we mapped dominant congenital posterior polar cataracts to chromosome 10q24. On sequencing the coding region of PITX3, we found a 17-base-pair duplication in exon 4. PMID: 16272057
27. This is the first report of homozygous PITX3 mutations in humans. The phenotype in these individuals highlights the role of PITX3 in ocular and central nervous system (CNS) development. PMID: 16565358
28. The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree. PMID: 16636655
29. we discuss the role of Pitx3 in molecular mechanisms involved in the regional specification, neuronal specification and differentiation of mDA neurons--REVIEW PMID: 17017509
30. The G219fs mutation was found in multiple families affected with congenital cataracts along with anterior segment malformations. The S13N mutant showed only minor alteration and may represent a rare polymorphism in the PITX3 gene. PMID: 17888164
31. We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549: C>T (p=0.004) with Parkinson Disease. PMID: 17905480
32. Duplication of a segment of PITX3 can result in severe symptoms leading to functional blindness while in other individuals in the same family or in other families, the same duplication leads to treatable cataract with minimal visual impairment. PMID: 18989383

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HGNC: 9006

OMIM: 107250

KEGG: hsa:5309

STRING: 9606.ENSP00000359019

UniGene: Hs.137568