| Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. | Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M., Free PMC Article | 07/30/2022 |
| Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells. | Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells.
Eskandarian Boroujeni M, Aliaghaei A, Maghsoudi N, Gardaneh M. | 02/27/2021 |
| 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. | A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q, Li D, Cai L, Qiu X, Zhao Z, Wu J, Yang J, Lu Y., Free PMC Article | 08/24/2019 |
| 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. | PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.
Wu Z, Meng D, Fang C, Li J, Zheng X, Lin J, Zeng H, Lv S, Zhang Z, Luan B, Zhong Z, Chen J., Free PMC Article | 08/3/2019 |
| Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects. | Identification of PITX3 mutations in individuals with various ocular developmental defects.
Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. | 04/13/2019 |
| 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. | PITX3 genotype and risk of dementia in Parkinson's disease: A population-based study.
Bäckström D, Domellöf ME, Granåsen G, Linder J, Mayans S, Elgh E, Mo SJ, Forsgren L. | 06/16/2018 |
| 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. | PITX3 DNA methylation is an independent predictor of overall survival in patients with head and neck squamous cell carcinoma.
Sailer V, Holmes EE, Gevensleben H, Goltz D, Dröge F, Franzen A, Dietrich J, Kristiansen G, Bootz F, Schröck A, Dietrich D., Free PMC Article | 12/30/2017 |
| Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa. | PITX3 promoter methylation is a prognostic biomarker for biochemical recurrence-free survival in prostate cancer patients after radical prostatectomy.
Holmes EE, Goltz D, Sailer V, Jung M, Meller S, Uhl B, Dietrich J, Röhler M, Ellinger J, Kristiansen G, Dietrich D., Free PMC Article | 04/29/2017 |
| These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family. | Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.
Liu H, Liu H, Tang J, Lin Q, Sun Y, Wang C, Yang H, Khan MR, Peerbux MW, Ahmad S, Bukhari I, Zhu J. | 03/18/2017 |
| PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population. | Genetic analysis of PITX3 variants in patients with essential tremor.
Chen H, Song Z, Yuan L, Xiong W, Yang Z, Gong L, Deng H. | 03/4/2017 |
| novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype | Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E., Free PMC Article | 11/22/2014 |
| Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease | PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis.
Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Agúndez JA. | 10/25/2014 |
| 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 | Functional roles of Nurr1, Pitx3, and Lmx1a in neurogenesis and phenotype specification of dopamine neurons during in vitro differentiation of embryonic stem cells.
Hong S, Chung S, Leung K, Hwang I, Moon J, Kim KS., Free PMC Article | 10/18/2014 |
| the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population. | Association between PITX3 promoter polymorphism and risk of Parkinson's disease: the impact of ethnicity and onset age.
Qiu G, Fu C, Liang GH. | 10/11/2014 |
| Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator) | Androgen receptor CAG repeats and prostate cancer.
Nelson KA, Witte JS. | 08/5/2014 |
| Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population. | Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.
Jamrozik Z, Berdynski M, Zekanowski C, Baranczyk-Kuzma A, Sławek J, Kuzma-Kozakiewicz M, Maruszak A, Kwiecinski H. | 10/26/2013 |
| 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. | Meta-analysis of association between PITX3 gene polymorphism and Parkinson's disease.
Tang L, Zhao S, Wang M, Sheth A, Zhao Z, Chen L, Fan X, Chen L. | 02/16/2013 |
| This study provided that NURR1 and PITX3 gene expression is decreased in the peripheral blood lymphocytes of Chinese patients with Parkinson's disease patients. | Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease.
Liu H, Wei L, Tao Q, Deng H, Ming M, Xu P, Le W. | 09/15/2012 |
| novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population. | A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population.
Gui Y, Zhao Y, Liu H, Fu J, Xu Z, Hu X. | 06/2/2012 |
| Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome. | Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P. | 05/26/2012 |
| Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively. | Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. | 03/31/2012 |
| 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. | PITX3 polymorphism is not associated with Parkinson's disease in a Chinese population.
Cai Y, Ding H, Gu Z, Baskys A, Ma J, Chan P. | 03/24/2012 |
| 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. | The transcription factor Pitx3 is a risk modifier for Parkinson's disease in a Chinese Han population.
Yu LH, Lin ZF, Liu Y, Hu FY, He XH, Liu ZL, Xu YM. | 03/17/2012 |
| we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly. | Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
Chograni M, Chaabouni M, Mâazoul F, Bouzid H, Kraiem A, Chaabouni HB., Free PMC Article | 03/10/2012 |
| 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. | Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease.
Guo Y, Le WD, Jankovic J, Yang HR, Xu HB, Xie WJ, Song Z, Deng H. | 12/10/2011 |