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These data further support the link between PITX2 and the WNT pathway and suggest a new role in regulation of collagen gene expression during development.
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Single Nucleotide Polymorphism in PITX2 gene is associated with inflammation in acute appendicitis.
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PITX2 has been implicated in determination of right-left symmetry during development. Anomalies in organ arrangement have been linked to increased prevalence of gastrointestinal and intra-abdominal complications, which may explain the effect of rs2129979 on appendicitis risk.
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Minor allele of SNP rs2200733 is associated with the risk of preeclampsia. SNP rs220073 may represent a common risk factor that predispose women to develop both preeclampsia during pregnancy and cardiovascular disease later on.
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This study for the first time demonstrates that the PITX2 mutation could lead to non-syndromic orodental anomalies in humans. We propose that the specific location in the C-terminal domain of PITX2 is exclusively necessary for tooth development.
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Rs17042171, near PITX2 on chromosome 4q25, is associated with atrial fibrillation susceptibility in the Chinese Han population from the central plains, suggesting that this SNP can provide a new strategy for clinical diagnosis in atrial fibrillation patients.
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NMR methodology was employed for determining the dynamics of lysine side-chain amino groups via (15)N relaxation measurements in the Lys50-class homeodomains from the Drosophila protein Bicoid and the human protein Pitx2
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Results demonstrate that BBP decreases endometrial mesenchymal stem/stromal cell (EN-MSC) myogenic differentiation through up-regulation of miR-137 and decreased transcription of PITX2. Also, BBP affects PITX2 expression through miR-137 targeting the 3' untranslated region of PITX2 mRNA.
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For non-metastatic triple-negative breast cancer patients, selective determination of the PITX2 DNA-methylation status may serve as a cancer biomarker for predicting response to anthracycline-based adjuvant chemotherapy.
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MiR-21 was down-regulated while PITX2 was up-regulated in pituitary adenoma tissues; MiR-21 can inhibit pituitary adenoma cell HP75 proliferation and facilitate apoptosis via inhibiting PITX2 expression
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PITX2 and PANCR methylation status were shown to be independent predictors for overall survival in HNSCC patients. Tissue-based methylation testing could therefore potentially be employed to identify patients with a high risk for death who might benefit from a more radical or alternative treatment.
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Data suggest that mutations affecting conserved non-coding elements of PITX2 may constitute an important class of mutations in patients with ASD for whom the molecular cause of their disease have not yet been identified.
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we propose that the Smad4-Pitx2-PPP2R2A axis, a new signaling pathway, suppresses the pancreatic carcinogenesis
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Pitx2 is essential to maintain iHepSCs stem cell characteristics
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Glaucoma prevalence and phenotype are characterized in a cohort of glaucoma patients and their family members with PITX2 variants.
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Using an independent analytical platform, PITX2 methylation was validated as a prognostic biomarker in HNSCC patients, identifying patients that potentially benefit from intensified surveillance and/or administration of adjuvant/neodjuvant treatment, i.e. immunotherapy.
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Pitx2 promoter region is methylated in atrial fibrillation patients.
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Findings suggest ESR1 and PITX2 promoter methylation may be correlated with a worse survival of patients with breast cancer. The clinical utility of aberrantly methylated ESR1 and PITX2 could be a promising factor for the prognosis of breast cancer.
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PITX2 methylation was significantly increased in tumor-positive biopsies and strongly correlated with International Society of Urological Pathology (ISUP) grade groups.
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the atrial fibrillation (AF)-associated SNP rs2595104 altered PITX2c expression via interaction with TFAP2a; such a pathway could ultimately contribute to AF susceptibility at the PITX2 locus associated with AF
