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NCBI Gene PubMed Count 41
PubMed Score 178.63
PubTator Score 89.18

Knowledge Summary


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Gene RIF (40)

24555714 novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype
24525476 Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease
24394914 the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population.
24172139 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
23694789 Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population.
22429667 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.
22411443 novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population.
22309633 This study provided that NURR1 and PITX3 gene expression is decreased in the peripheral blood lymphocytes of Chinese patients with Parkinson's disease patients.
22223473 Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome.
22103961 we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
22037506 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.
21836522 Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively.
21633712 The 542delC is a novel mutation in PITX3 causing an isolated posterior polar cataract.
21565251 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.
21524731 This study suggested that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of Parkinson's disease in chinese.
21469209 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.
21138504 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.
20570600 Genetic variation in PITX3 may increase the risk of developing schizophrenia.
20570600 Observational study of gene-disease association. (HuGE Navigator)
20468068 Observational study of gene-disease association. (HuGE Navigator)
20376326 The absence of PITX3 mutations in a family presenting congenital cataract and mental retardation, is reported.
19394114 PITX3 may play a role in the pathogenesis of Parkinson disease.
19394114 Observational study of gene-disease association. (HuGE Navigator)
19345444 The result of this study found a strong association between the PITX3 promoter rs3758549 polymorphism and Parkinson's disease.
19345444 Observational study of gene-disease association. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
18989383 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.
18420308 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.
18420308 Observational study of gene-disease association. (HuGE Navigator)
17905480 We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549: C>T (p=0.004) with Parkinson Disease.
17905480 Observational study of gene-disease association. (HuGE Navigator)
17888164 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.
17017509 we discuss the role of Pitx3 in molecular mechanisms involved in the regional specification, neuronal specification and differentiation of mDA neurons--REVIEW
16636655 The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree.
16565358 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.
16477036 Nurr1 and Pitx3 cooperatively promote terminal maturation to the midbrain dopamine neuron phenotype in murine and human ES cell cultures.
16272057 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.
15286169 A family with posterior polar cataract with a novel deletion mutation in PITX3.
11994226 Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

AVHGPPPAANLSPCQYAVERPV                                                    281 - 302

Text Mined References (42)

PMID Year Title
24555714 2014 Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
24525476 2014 PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis.
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
24394914 2014 Association between PITX3 promoter polymorphism and risk of Parkinson's disease: the impact of ethnicity and onset age.
24172139 2014 Functional roles of Nurr1, Pitx3, and Lmx1a in neurogenesis and phenotype specification of dopamine neurons during in vitro differentiation of embryonic stem cells.
23694789 2013 Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.
22429667 2012 Meta-analysis of association between PITX3 gene polymorphism and Parkinson's disease.
22411443 2012 A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population.
22309633 2012 Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease.
22223473 2012 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.
22103961 2011 Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
22037506 2011 PITX3 polymorphism is not associated with Parkinson's disease in a Chinese population.
21836522 2011 Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
21633712 2011 A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
21565251 2011 Genetic variants of the PITX3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population.
21524731 2011 PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population.
21469209 2011 Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease.
21138504 2011 The transcription factor Pitx3 is a risk modifier for Parkinson's disease in a Chinese Han population.
20570600 2010 Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia.
20468068 2010 Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.
20376326 2010 Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19394114 2011 Transcription factor PITX3 gene in Parkinson's disease.
19345444 2011 Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
18989383 2008 Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
18420308 2010 PITX3 polymorphism is associated with early onset Parkinson's disease.
17905480 2009 The transcription factor PITX3 is associated with sporadic Parkinson's disease.
17888164 2007 Functional analysis of human mutations in homeodomain transcription factor PITX3.
17017509 2006 The role of Pitx3 in survival of midbrain dopaminergic neurons.
16636655 2006 The PITX3 gene in posterior polar congenital cataract in Australia.
16565358 2006 Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
16477036 2006 Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype.
16272057 2005 Posterior polar cataract: genetic analysis of a large family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15286169 2004 Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11994226 2002 Androgen receptor CAG repeats and prostate cancer.
9620774 1998 A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
6801987 1982 Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations.