anti-Pituitary Homeobox 3 (PITX3) Antikörper

Human Pituitary Homeobox 3 (PITX3) Interaktionspartner

1. 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.

2. 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.

3. Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects.

4. 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.

5. 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.

6. Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa.

7. These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family.

8. PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population.

9. novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype

10. Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease

11. 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

12. the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population.

13. Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population.

14. 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.

15. This study provided that NURR1 and PITX3 gene expression is decreased in the peripheral blood lymphocytes of Chinese patients with Parkinson's disease patients.

16. novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population.

17. Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome.

18. Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively.

19. 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.

20. 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.

Xenopus laevis Pituitary Homeobox 3 (PITX3) Interaktionspartner

1. In Xenopus, pitx3 appears to inhibit the rotation of presomitic cell cohorts and to be necessary to the bilaterally symmetric expression of pitx2 in somites.

2. Microarray-based identification of Pitx3 targets during Xenopus embryogenesis.

3. expression of Pitx3 in the presumptive lens ectoderm is critical for retina development

Mouse (Murine) Pituitary Homeobox 3 (PITX3) Interaktionspartner

1. Using Pitx2/3 single and double mutant mice that provide genetic models of deregulated redox states, we demonstrate that moderate overproduction of ROS results in premature differentiation of satellite cells while high levels lead to their senescence and regenerative failure

2. that Pitx3 is co-recruited to regions that foster the formation of GATA-bHLH-BRN complexes, which usually involve Lmo co-regulatory proteins

3. in absence of En1 and Pitx3, only a limited number of Mesodiencephalic dopaminergic neurons are present in mouse embryo.

4. Pitx3 is specifically required for DA-related function and, if impaired, Pitx3 could contribute during the pathogenesis of Parkinson's disease.

5. the sonic hedgehog signaling pathway is both necessary and sufficient for the induction of ectopic PITX3 expression in chick mesencephalon downstream of WNT9A-induced LMX1a transcription.

6. microphthalmos/aphakia inPITX3 nonsense mutant is caused by the expression of truncated PITX3, resulting in the abnormal expression of downstream targets and lens fiber proteins.

7. Pitx3 binds to an evolutionary conserved bicoid-binding site on the 5'-upstream region of Foxe3. Pitx3 binding to 5'-upstream region of Foxe3 increased transcriptional activity significantly in a cell-based reporter assay.

8. During fetal myogenesis, Pitx2/3 control this redox state through the regulation of Nrf1 and of antioxidant pathways.

9. Pitx3 overexpressing mouse significantly affects the gene expression of midbrain dopamine neurons. Motor coordination and locomotion activities are significantly affected in mice overexpressing Pitx3 mice.

10. Primary fetal neurobehavioral deficit of the Pitx3 mutation is akinesia related to nigrostriatal damage.

11. Two crucial mediators of mesodiencephalic dopaminergic neuronal development, En1 and Pitx3, interact in dopaminergic subset specification.

12. a novel link between Pitx3 function and the selective pattern of midbrain dopaminergic neurons cell loss observed in Parkinson's disease.

13. Reduced Th expression was associated with loss of Pitx3.

14. Pitx3 mutant mice are a convenient and valid mouse model to study the compensatory 5-HT upregulation

15. The Pitx3 gene is well known for its specific expression in mdDA neurons and is present at the onset of terminal differentiation.

16. There is a direct interaction between Nurr1 and the Pitx3 gene promoter.

17. Pitx3 acts on multiple levels in the molecular subset-specification of mdDA neurons.

18. Pitx3-deficient aphakia mice display unique behavioral responses to psychostimulant and antipsychotic drugs

19. The frame-shift mutation (Pitx eyl ) affects the C-terminal part of the transcription factor Pitx3 and causes alterations in the eye and brain.

20. A homeodomain protein that is required for development of substantia nigra dopaminergic neurons.

Zebrafish Pituitary Homeobox 3 (PITX3) Interaktionspartner

1. pitx3 expression in the primordia of the pituitary, lens, olfactory mucosa, and cranial ganglia is modulated by hedgehog and nodal proteins' signaling.

2. expressing cells constitute an equivalence domain of cells that can form either pituitary or lens

3. results demonstrate zebrafish pitx3 represents a true ortholog of the human PITX3 gene and the general function of the Pitx3 protein in lens development is conserved between mammals and the teleost fish

4. Data demonstrate that Foxe3 is necessary for lens development in zebrafish and that foxe3 lies genetically downstream of pitx3 in a zebrafish lens development pathway.

5. while lmx1b paralogues may contribute to the generation of diencephalic dopaminergic precursors. Conversely, knock-down of pitx3 does not specifically affect any diencephalic dopamine cluster