Property Summary

NCBI Gene PubMed Count 41
Grant Count 78
R01 Count 38
Funding $7,412,235.23
PubMed Score 178.63
PubTator Score 89.18

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O75364 Q5VZL2
Symbols ASMD
ASOD
PTX3
CTPP4
CTRCT11

Gene

Gene RIF (40)

PMID Text
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.
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AA Sequence

MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFT      1 - 70
SQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGL     71 - 140
VPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVP    141 - 210
GPGALQGLGGGPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYP    211 - 280
AVHGPPPAANLSPCQYAVERPV                                                    281 - 302
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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.
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