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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.
Single Nucleotide Polymorphism in PITX2 gene is associated with inflammation in acute appendicitis.
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.
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.
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.
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.
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
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.
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.
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
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.
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.
we propose that the Smad4-Pitx2-PPP2R2A axis, a new signaling pathway, suppresses the pancreatic carcinogenesis
Pitx2 is essential to maintain iHepSCs stem cell characteristics
Glaucoma prevalence and phenotype are characterized in a cohort of glaucoma patients and their family members with PITX2 variants.
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.
Pitx2 promoter region is methylated in atrial fibrillation patients.
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.
PITX2 methylation was significantly increased in tumor-positive biopsies and strongly correlated with International Society of Urological Pathology (ISUP) grade groups.
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
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
The paper's findings reveal a role for Pitx2 in maintaining proper cardiac cellular composition during heart regeneration via the maintenance of proper mitochondrial structure and function.
data demonstrate that HTD, but not HTN, can impair Pitx2>>Wnt pathway providing thus a molecular link to AF
Defined a transcriptional architecture for atrial rhythm control organized as an incoherent feed-forward loop, driven by TBX5 and modulated by PITX2. TBX5/PITX2 interplay provides tight control of atrial rhythm effector gene expression, and perturbation of the co-regulated network caused atrial fibrillation susceptibility.
Uncovering a Pitx2-Sox2-Lef-1 transcriptional mechanism that regulates dental epithelial stem cells homeostasis and dental development.
Study reports that p27 normally exerts a negative feedback on p21 expression: p27 directly represses the expression of the transcription factor Pitx2 which in turn maintains decreased p21 levels. Consequently, in cells lacking p27, de-repression of Pitx2 causes the up-regulation of p21 showing a new mechanism by which p27 regulates cell cycle progression by transcriptionally regulating the expression of Pitx2 and p21.
demonstrate a dose-dependent relation between Pitx2 expression and the expression of atrial fibrillation susceptibility genes
Data suggest a putative role of the homeobox protein PITX2 (PITX2B) isoform during ventricular septation as well as in the maturation of the right portion of the atrioventricular canal.
Pitx2 represses left-side expression of a conserved lncRNA Playrr. Pitx2 auto-regulation directs chromatin topology to coordinate left-right transcription and organogenesis.
The AP-2beta transcription factor is an important effector of PITX2 function during corneal development, required for differentiation of corneal endothelium and establishment of angiogenic privilege.
Pitx2-deficient neonatal mouse hearts failed to repair after apex resection, whereas adult mouse cardiomyocytes with Pitx2 gain-of-function efficiently regenerated after myocardial infarction
This study describes a Pitx2-miRNA pathway controlling cell proliferation in myogenic cells, providing new targets to enhance the regenerative capacity of limb skeletal-muscle myogenic precursor cells for the treatment of skeletal-muscle diseases.
de-regulation of both PITX2 and ENPEP could contribute to an increased risk of atrial fibrillation in carriers of disease-associated variants.
Pitx2 pathway drives organ-specific arterial and lymphatic development in the intestine
Pitx2c may regulate functional Left-Right asymmetry of the developing limb.
The combination of Pitx2, a regulator of dental stem cells and miR-200a converts mesenchymal cells to a fully differentiated dental epithelial cell type.
Pitx2 has genetically separable postnatal and developmental functions, unveil direct Pitx2 target genes that include channel and calcium handling genes, as well as genes that stabilize the intercalated disc in postnatal atrium.
During fetal myogenesis, Pitx2/3 control this redox state through the regulation of Nrf1 and of antioxidant pathways.
in normal tooth development Pitx2 activates amelogenin expression, whose product is required for enamel formation; this regulation is perturbed by missense PITX2 mutations in Axenfeld-Rieger Syndrome (ARS); findings define transcriptional mechanisms involved in normal tooth development and shed light on molecular underpinnings of enamel defect in ARS
Late zygotic oep mutants have strongly reduced or absent pitx2 expression in the lateral plate mesoderm (LPM), but this expression can be rescued to strong levels by restoring oep in midline structures only.
asymmetric expression of fatty acid elongase 6 gene is controlled by left right Nodal signaling and is independent of Pitx2 function in zebrafish
This study found PITX2 to be decreased in patients with sustained Atrial Fibrillation, suggesting a PITX2 loss of function mechanism in Atrial Fibrillation.
Antagonism between Nodal and Pitx2c activities sets an upper limit on parapineal cell numbers. Restricting parapineal cell number is crucial for the correct elaboration of epithalamic asymmetry.
Pitx2, implicated in left-right asymmetry, possessed appropriate 'atypical' Pegasus binding sites in its promoter.
Data indicate that retinoic acid (RA) induces the expression patterns of genes normally expressed in the posterior tooth-forming region, such as pitx2 and dlx2b.
Pitx2 is essential for proper eye and craniofacial development in zebrafish.
Retinoic acid regulation of pitx2 is essential for coordinating interactions among neural crest, mesoderm, and developing eye.
Zebrafish pitx2 demonstrates conserved expression during ocular and craniofacial development. Thirteen conserved noncoding sequences positioned within a gene desert as far as 1.1 Mb upstream of the human PITX2
ESR1 inhibits the expression of Pitx2 gene by binding to a left side-specific enhancer region in Pitx2 gene and recruiting histone deacetylase 1 to this region, leading to the suppression of Pitx2 gene in the left lateral plate mesoderm.
A novel spliced variant of cattle PITX2 was identified. In addition, a 24bp deletion detected in the PITX2 gene was found to have significant associations with cattle growth traits.
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described.
ALL1-responsive protein ARP1
, all1-responsive gene 1
, homeobox protein PITX2
, paired-like homeodomain transcription factor 2
, pituitary homeobox 2
, rieg bicoid-related homeobox transcription factor 1
, BRX1 homeoprotein
, orthodenticle-like homeobox 2
, paired-like homeodomain transcription factor Munc 30
, paired-like homeodomain transcription factor 2a
, homeodomain transcription factor 2
, transcription factor Pitx2
, homeodomain transcription factor Pitx2