PITX2

Summary

Gene Symbol: PITX2
Description: paired like homeodomain 2
Alias: ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, pituitary homeobox 2, ALL1-responsive protein ARP1, all1-responsive gene 1, homeobox protein PITX2, paired-like homeodomain transcription factor 2, rieg bicoid-related homeobox transcription factor 1, solurshin
Species: human
Products:     PITX2

Top Publications

  1. Doward W, Perveen R, Lloyd I, Ridgway A, Wilson L, Black G. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 1999;36:152-5 pubmed
    Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome...
  2. Borges A, Susanna R, Carani J, Betinjane A, Alward W, Stone E, et al. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. J Glaucoma. 2002;11:51-6 pubmed
    ..This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome...
  3. Strungaru M, Dinu I, Walter M. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci. 2007;48:228-37 pubmed
    To improve the understanding of Axenfeld-Rieger Malformation (ARM)-associated glaucoma and to determine the best glaucoma treatment for patients with ARM who have known genetic defects in FOXC1 or PITX2.
  4. Berry F, Lines M, Oas J, Footz T, Underhill D, Gage P, et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet. 2006;15:905-19 pubmed
    Axenfeld-Rieger ocular dysgenesis is associated with mutations of the human PITX2 and FOXC1 genes, which encode transcription factors of the homeodomain and forkhead types, respectively...
  5. Banez L, Sun L, van Leenders G, Wheeler T, Bangma C, Freedland S, et al. Multicenter clinical validation of PITX2 methylation as a prostate specific antigen recurrence predictor in patients with post-radical prostatectomy prostate cancer. J Urol. 2010;184:149-56 pubmed publisher
    ..We previously reported the prognostic potential of PITX2 gene promoter methylation using conventional assays...
  6. Lines M, Kozlowski K, Kulak S, Allingham R, Heon E, Ritch R, et al. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2004;45:828-33 pubmed
    Mutations of the homeodomain protein PITX2 produce Axenfeld-Rieger (AR) malformations of the anterior chamber, an autosomal dominant disorder accompanied by a 50% risk of glaucoma...
  7. Gudbjartsson D, Arnar D, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature. 2007;448:353-7 pubmed
    ..42 per copy. A stronger association was observed in individuals with typical atrial flutter. Both variants are adjacent to PITX2, which is known to have a critical function in left-right asymmetry of the heart.
  8. Saadi I, Semina E, Amendt B, Harris D, Murphy K, Murray J, et al. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem. 2001;276:23034-41 pubmed
    Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome...
  9. Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin A, et al. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet. 2001;10:1631-8 pubmed
    The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be clearly defined. We provide here new insight into PITX2 pathogenesis through mutational and functional analyses...

More Information

Publications79

  1. Acharya M, Lingenfelter D, Huang L, Gage P, Walter M. Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells. J Biol Chem. 2009;284:34829-38 pubmed publisher
    Mutations in the homeobox transcription factor PITX2 result in Axenfeld-Rieger syndrome (ARS), which is associated with anterior segment dysgenesis and an increased risk of glaucoma...
  2. Zhou Y, Zheng P, Yang Y, Ge Z, Kang W. A novel PITX2c loss?of?function mutation underlies lone atrial fibrillation. Int J Mol Med. 2013;32:827-34 pubmed publisher
  3. Cox C, Espinoza H, McWilliams B, Chappell K, Morton L, Hjalt T, et al. Differential regulation of gene expression by PITX2 isoforms. J Biol Chem. 2002;277:25001-10 pubmed
    Three major PITX2 isoforms are differentially expressed in human, mice, zebrafish, chick, and frog tissues...
  4. Hjalt T, Semina E. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005;7:1-17 pubmed
    ..Mutations in several chromosomal loci have been implicated in ARS, including PITX2, FOXC1 and PAX6. Full-spectrum ARS is caused primarily by mutations in the PITX2 gene...
  5. Brooks B, Moroi S, Downs C, Wiltse S, Othman M, Semina E, et al. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genet. 2004;25:57-62 pubmed
    ..by specific ocular and non-ocular anomalies sometimes caused by mutations in the transcription factor gene, PITX2. The three coding exons of the PITX2 gene, i.e...
  6. Ellinor P, Lunetta K, Albert C, Glazer N, Ritchie M, Smith A, et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet. 2012;44:670-5 pubmed publisher
    ..The identified loci implicate candidate genes that encode transcription factors related to cardiopulmonary development, cardiac-expressed ion channels and cell signaling molecules. ..
  7. Phillips J. Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Ophthalmic Res. 2002;34:324-6 pubmed
    Mutational screening and sequence analysis of the PITX2 gene was performed in four families previously diagnosed with Rieger syndrome. The results of this analysis identified four novel mutations within the coding sequence of PITX2...
  8. Kulak S, Kozlowski K, Semina E, Pearce W, Walter M. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113-7 pubmed
    ..b>RIEG1 , the gene responsible for the 4q25 ARS phenotype, recently has been cloned...
  9. Arakawa H, Nakamura T, Zhadanov A, Fidanza V, Yano T, Bullrich F, et al. Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. Proc Natl Acad Sci U S A. 1998;95:4573-8 pubmed
    ..The gene, designated ARP1 (also termed RIEG, Ptx2, or Otlx2), is a member of a family of homeotic genes containing a short motif shared with several homeobox genes...
  10. Tumer Z, Bach Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009;17:1527-39 pubmed publisher
    ..ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis...
  11. Schayek H, Bentov I, Jacob Hirsch J, Yeung C, Khanna C, Helman L, et al. Global methylation analysis identifies PITX2 as an upstream regulator of the androgen receptor and IGF-I receptor genes in prostate cancer. Horm Metab Res. 2012;44:511-9 pubmed publisher
    ..102 genes were upregulated in both benign and metastatic cell lines. In addition, our analyses identified the PITX2 gene as a master regulator upstream of the AR and IGF-IR genes...
  12. Footz T, Idrees F, Acharya M, Kozlowski K, Walter M. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. Invest Ophthalmol Vis Sci. 2009;50:2599-606 pubmed publisher
    To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region of PITX2...
  13. Huang Y, Huang K, Boskovic G, Dementieva Y, Denvir J, Primerano D, et al. Proteomic and genomic analysis of PITX2 interacting and regulating networks. FEBS Lett. 2009;583:638-42 pubmed publisher
    b>Pituitary homeobox 2 (PITX2) is a homeodomain transcription factor that has a substantial role in cell proliferation and differentiation in various tissues...
  14. Husser D, Adams V, Piorkowski C, Hindricks G, Bollmann A. Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation. J Am Coll Cardiol. 2010;55:747-53 pubmed publisher
    ..Although the mechanisms underlying this increased risk are unknown, the closest gene, PITX2, is critical for myocardium development in the pulmonary veins...
  15. Huang Y, Guigon C, Fan J, Cheng S, Zhu G. Pituitary homeobox 2 (PITX2) promotes thyroid carcinogenesis by activation of cyclin D2. Cell Cycle. 2010;9:1333-41 pubmed
    b>Pituitary homeobox 2 (PITX2), a Paired-like homeodomain transcription factor and a downstream effector of ?-catenin signaling, plays substantial roles in normal embryonic development but its possible involvement in tumorigenesis was ..
  16. Kirchhof P, Kahr P, Kaese S, Piccini I, Vokshi I, Scheld H, et al. PITX2c is expressed in the adult left atrium, and reducing Pitx2c expression promotes atrial fibrillation inducibility and complex changes in gene expression. Circ Cardiovasc Genet. 2011;4:123-33 pubmed publisher
    Intergenic variations on chromosome 4q25, close to the PITX2 transcription factor gene, are associated with atrial fibrillation (AF)...
  17. Paylakhi S, Fan J, Mehrabian M, Sadeghizadeh M, Yazdani S, Katanforoush A, et al. Effect of PITX2 knockdown on transcriptome of primary human trabecular meshwork cell cultures. Mol Vis. 2011;17:1209-21 pubmed
    ..in primary human trabecular meshwork (TM) cell cultures are affected by the transcription factor pituitary homeobox 2 (PITX2) and to identify genes that may have roles in glaucoma...
  18. Kioussi C, Briata P, Baek S, Rose D, Hamblet N, Herman T, et al. Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development. Cell. 2002;111:673-85 pubmed
    ..Here, we report that the bicoid-related transcription factor Pitx2 is rapidly induced by the Wnt/Dvl/beta-catenin pathway and is required for effective cell-type-specific ..
  19. Cella W, de Vasconcellos J, de Melo M, Kneipp B, Costa F, Longui C, et al. Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. Invest Ophthalmol Vis Sci. 2006;47:1803-9 pubmed
    ..The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes ..
  20. Dietrich D, Hasinger O, Liebenberg V, Field J, Kristiansen G, Soltermann A. DNA methylation of the homeobox genes PITX2 and SHOX2 predicts outcome in non-small-cell lung cancer patients. Diagn Mol Pathol. 2012;21:93-104 pubmed publisher
    ..In this study, the ability of the DNA methylation biomarkers PITX2 and SHOX2 to predict disease outcome in lung cancer patients has been evaluated...
  21. Franco D, Chinchilla A, Daimi H, Domínguez J, Aránega A. Modulation of conductive elements by Pitx2 and their impact on atrial arrhythmogenesis. Cardiovasc Res. 2011;91:223-31 pubmed publisher
    ..Among them are genetic variants located on chromosome 4q25 adjacent to PITX2, a transcription factor known to play a critical role in left-right asymmetry and cardiogenesis...
  22. Semina E, Reiter R, Leysens N, Alward W, Small K, Datson N, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-9 pubmed
    Rieger syndrome (RIEG) is an autosomal-dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus...
  23. Alward W, Semina E, Kalenak J, Heon E, Sheth B, Stone E, et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998;125:98-100 pubmed
    ..This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/ITX2 gene product...
  24. Benjamin E, Rice K, Arking D, Pfeufer A, van Noord C, Smith A, et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet. 2009;41:879-81 pubmed publisher
    ..19; P = 2.3 x 10(-7)). We replicated this association in an independent cohort from the German AF Network (odds ratio = 1.44; P = 1.6 x 10(-11); combined RR = 1.25; combined P = 1.8 x 10(-15)). ..
  25. Quentien M, Pitoia F, Gunz G, Guillet M, Enjalbert A, Pellegrini I. Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants. Endocrinology. 2002;143:2839-51 pubmed
    The transcription factor Pitx2 is required for the morphogenesis of anterior structures such as the eye, teeth, and anterior pituitary...
  26. Weiss G, Cottrell S, Distler J, Schatz P, Kristiansen G, Ittmann M, et al. DNA methylation of the PITX2 gene promoter region is a strong independent prognostic marker of biochemical recurrence in patients with prostate cancer after radical prostatectomy. J Urol. 2009;181:1678-85 pubmed publisher
    ..ABHD9, Chr3-EST, GPR7, HIST2H2BF and PITX2 were significantly associated with biochemical recurrence...
  27. Franco D, Campione M. The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med. 2003;13:157-63 pubmed
    b>Pitx2 is a bicoid-related homeodomain transcription factor that plays a critical role in directing cardiac asymmetric morphogenesis...
  28. Wang Y, Zhao H, Zhang X, Feng H. Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. J Dent Res. 2003;82:1008-12 pubmed
    Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome...
  29. Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, et al. Mutation in PITX2 is associated with ring dermoid of the cornea. J Med Genet. 2004;41:e129 pubmed
  30. Ellinor P, Lunetta K, Glazer N, Pfeufer A, Alonso A, Chung M, et al. Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet. 2010;42:240-4 pubmed publisher
    ..52, 95% CI 1.40-1.64; P = 1.83 x 10(-21)). rs13376333 is intronic to KCNN3, which encodes a potassium channel protein involved in atrial repolarization. ..
  31. Maciolek N, Alward W, Murray J, Semina E, McNally M. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Med Genet. 2006;7:59 pubmed
    Axenfeld-Rieger syndrome (ARS) is associated with mutations in the PITX2 gene that encodes a homeobox transcription factor...
  32. Saadi I, Kuburas A, Engle J, Russo A. Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. Mol Cell Biol. 2003;23:1968-82 pubmed
    Axenfeld-Rieger syndrome is an autosomal-dominant disorder caused by mutations in the PITX2 homeodomain protein. We have studied the mechanism underlying the dominant negative K88E mutation, which occurs at position 50 of the homeodomain...
  33. Harbeck N, Nimmrich I, Hartmann A, Ross J, Cufer T, Grutzmann R, et al. Multicenter study using paraffin-embedded tumor tissue testing PITX2 DNA methylation as a marker for outcome prediction in tamoxifen-treated, node-negative breast cancer patients. J Clin Oncol. 2008;26:5036-42 pubmed publisher
    We recently reported DNA methylation of the paired-like homeodomain transcription factor 2 (PITX2) gene to be strongly correlated with increased risk of recurrence in node-negative, hormone receptor-positive, tamoxifen-treated breast ..
  34. Amendt B, Sutherland L, Semina E, Russo A. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. J Biol Chem. 1998;273:20066-72 pubmed
    ..Mutations in the Pitx2 homeobox gene have been linked to Rieger syndrome...
  35. Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2006;47:3846-52 pubmed
    To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations.
  36. Chinchilla A, Daimi H, Lozano Velasco E, Domínguez J, Caballero R, Delpón E, et al. PITX2 insufficiency leads to atrial electrical and structural remodeling linked to arrhythmogenesis. Circ Cardiovasc Genet. 2011;4:269-79 pubmed publisher
    b>Pitx2 is a homeobox transcription factor that plays a pivotal role in early left/right determination during embryonic development...
  37. Li M, Sun G, Qiu J, Li A. Occurrence and variation of lipophilic shellfish toxins in phytoplankton, shellfish and seawater samples from the aquaculture zone in the Yellow Sea, China. Toxicon. 2017;127:1-10 pubmed publisher
    ..b>PTX2 was found to be the predominant LSTs, while OA and DTX1 were detected at trace levels in the three species of ..
  38. Carmona R, Arroyo M, Jiménez Quesada M, Seoane P, Zafra A, Larrosa R, et al. Automated identification of reference genes based on RNA-seq data. Biomed Eng Online. 2017;16:65 pubmed publisher
    Gene expression analyses demand appropriate reference genes (RGs) for normalization, in order to obtain reliable assessments...
  39. Muczynski V, Aymé G, Regnault V, Vasse M, Borgel D, Legendre P, et al. Complex formation with pentraxin-2 regulates factor X plasma levels and macrophage interactions. Blood. 2017;129:2443-2454 pubmed publisher
    ..Here, we demonstrate that the FX/SR-AI-complex comprises a third protein, pentraxin-2 (PTX2)...
  40. Kizys M, Nesi França S, Cardoso M, Harada M, Melo M, Chiamolera M, et al. The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis. J Pediatr Endocrinol Metab. 2014;27:317-22 pubmed publisher
    ..The aim of this work was to search for mutations in thyroid developmental candidate genes HOXA3, HOXB3, HOXD3 and PITX2. Total DNA from peripheral blood was extracted and then the entire coding region of all these genes was amplified ..
  41. Chen L, Martino V, Dombkowski A, Williams T, WEST MAYS J, Gage P. AP-2β Is a Downstream Effector of PITX2 Required to Specify Endothelium and Establish Angiogenic Privilege During Corneal Development. Invest Ophthalmol Vis Sci. 2016;57:1072-81 pubmed publisher
    The homeodomain transcription factor, PITX2, is at the apex of a genetic pathway required for corneal development, but the critical effector genes regulated by the PITX2 remain unknown...
  42. Marczenke M, Fell J, Piccini I, Röpke A, Seebohm G, Greber B. Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. Stem Cell Res. 2017;21:26-28 pubmed publisher
    Loss-of-function mutations in the PITX2 transcription factor gene have been shown to cause familial atrial fibrillation (AF)...
  43. Moazzeni H, Akbari M, Yazdani S, Elahi E. Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. Gene. 2016;593:76-83 pubmed publisher
    The transcription factor PITX2 is implicated in glaucoma pathology. In an earlier study we had used microarray analysis to identify genes in the trabecular meshwork (TM) that are affected by knock down of PITX2...
  44. Bush A, Vasen G, Constantinou A, Dunayevich P, Patop I, Blaustein M, et al. Yeast GPCR signaling reflects the fraction of occupied receptors, not the number. Mol Syst Biol. 2016;12:898 pubmed publisher
    ..fractional occupancy depends on the physical interaction between the inhibitory regulator of G-protein signaling (RGS), Sst2, and the receptor...
  45. Heon E, Sheth B, Kalenak J, Sunden S, Streb L, Taylor C, et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet. 1995;4:1435-9 pubmed
    ..These results suggest that autosomal dominant iris hypoplasia and Rieger syndrome are allelic. ..
  46. Arora M, Hemmer M, Ahn K, Klein J, Cutler C, Urbano Ispizua A, et al. Center for International Blood and Marrow Transplant Research chronic graft-versus-host disease risk score predicts mortality in an independent validation cohort. Biol Blood Marrow Transplant. 2015;21:640-5 pubmed publisher
    ..According to the sum of the overall risk score (range, 1 to 12), patients were assigned to 4 risk groups (RGs): RG1 (0 to 2), RG2 (3 to 6), RG3 (7 to 8), and RG4 (9 to 10)...
  47. Ahlers K, Chakravarti B, Fisher R. RGS6 as a Novel Therapeutic Target in CNS Diseases and Cancer. AAPS J. 2016;18:560-72 pubmed publisher
    Regulator of G protein signaling (RGS) proteins are gatekeepers regulating the cellular responses induced by G protein-coupled receptor (GPCR)-mediated activation of heterotrimeric G proteins...
  48. Bodle C, Mackie D, Hayes M, Schamp J, Miller M, Henry M, et al. Natural Products Discovered in a High-Throughput Screen Identified as Inhibitors of RGS17 and as Cytostatic and Cytotoxic Agents for Lung and Prostate Cancer Cell Lines. J Nat Prod. 2017;80:1992-2000 pubmed publisher
    Regulator of G Protein Signaling (RGS) 17 is an overexpressed promoter of cancer survival in lung and prostate tumors, the knockdown of which results in decreased tumor cell proliferation in vitro...
  49. Asgar J, Zhang Y, Saloman J, Wang S, Chung M, Ro J. The role of TRPA1 in muscle pain and mechanical hypersensitivity under inflammatory conditions in rats. Neuroscience. 2015;310:206-15 pubmed publisher
    ..The rat grimace scale (RGS) was utilized to assess inflammation-induced spontaneous muscle pain...
  50. Yang Y, Xu Y, Li R, Qu X, Fang W, Liu X. Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. Int J Cardiol. 2013;168:2873-6 pubmed publisher
  51. Unal M. Use of adapalene in alopecia areata: Efficacy and safety of mometasone furoate 0.1% cream versus combination of mometasone furoate 0.1% cream and adapalene 0.1% gel in alopecia areata. Dermatol Ther. 2018;31: pubmed publisher
    ..1% gel (M?+?D) for a period of 12 weeks. Hair regrowth was evaluated using a Re-growth score (RGS). Mean RGSs of M?+?D group were higher than M group for 4th week (2.60 vs. 1.45); 8th week (3.85 vs. 2...
  52. Christesen D, Yang Y, Somers J, Robin C, Sztal T, Batterham P, et al. Transcriptome Analysis of Drosophila melanogaster Third Instar Larval Ring Glands Points to Novel Functions and Uncovers a Cytochrome p450 Required for Development. G3 (Bethesda). 2017;7:467-479 pubmed publisher
    ..melanogaster wandering third instar larval RGs has provided a fascinating insight into the diversity of developmental signaling in this organ...
  53. Lewis C, Hedberg Buenz A, DeLuca A, Stone E, Alward W, Fingert J. Primary congenital and developmental glaucomas. Hum Mol Genet. 2017;26:R28-R36 pubmed publisher
    ..Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations...
  54. Chen I, Furutani K, Kurachi Y. Structural determinants at the M2 muscarinic receptor modulate the RGS4-GIRK response to pilocarpine by impairment of the receptor voltage sensitivity. Sci Rep. 2017;7:6110 pubmed publisher
    ..We previously have demonstrated that the regulator of G-protein signaling (RGS) 4 protein discriminates between the voltage-dependent responses of ACh and pilocarpine; however, the underlying ..
  55. Tang P, Duan J, Wu H, Ju X, Yuan M. Reference gene selection to determine differences in mitochondrial gene expressions in phosphine-susceptible and phosphine-resistant strains of Cryptolestes ferrugineus, using qRT-PCR. Sci Rep. 2017;7:7047 pubmed publisher
    ..ferrugineus, but reliable qRT-PCR results depend on suitable reference genes (RGs). We evaluated the stability of nine candidate RGs across different developmental stages and phosphine strains of C...
  56. Yang Q, Wang J, Li Z. [Differentially expressed genes between the human mandible- and ilium- derived mesenchymal cells]. Shanghai Kou Qiang Yi Xue. 2017;26:180-183 pubmed
    ..After the analysis from Gene MANIA database, the molecular networks of MSX1, MSX2, HAND2, SIX1, PITX2, OSR2, PAX3 and PRRX1 were built to show that these eight genes exhibited interactions, including co-expression, ..
  57. Protas M, Weh E, Footz T, Kasberger J, Baraban S, Levin A, et al. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Hum Mol Genet. 2017;26:3630-3638 pubmed publisher
    Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma...
  58. Lovatt M, Yam G, Peh G, Colman A, Dunn N, Mehta J. Directed differentiation of periocular mesenchyme from human embryonic stem cells. Differentiation. 2018;99:62-69 pubmed publisher
    ..and WNT signalling, we generated neural crest cells that express high levels of the POM transcription factors PITX2 and FOXC1...
  59. Chen J, Li X, Wang S, Chen F, Cao W, Sun C, et al. Screening of lipophilic marine toxins in marine aquaculture environment using liquid chromatography-mass spectrometry. Chemosphere. 2017;168:32-40 pubmed publisher
    ..Okadaic acid (OA), pectenotoxin 2 (PTX2), etc were detected and tentatively identified...
  60. Hebert S, Daniel M, McLoon L. The role of Pitx2 in maintaining the phenotype of myogenic precursor cells in the extraocular muscles. PLoS ONE. 2013;8:e58405 pubmed publisher
    ..b>Pitx2, a bicoid-like homeobox transcription factor, is required for the development of EOM and the maintenance of ..
  61. Vinarskaja A, Schulz W, Ingenwerth M, Hader C, Arsov C. Association of PITX2 mRNA down-regulation in prostate cancer with promoter hypermethylation and poor prognosis. Urol Oncol. 2013;31:622-7 pubmed publisher
    Hypermethylation of the PITX2 (paired-like homeodomain transcription factor 2) gene promoter is strongly associated with recurrence after radical prostatectomy...
  62. Martin D, Skidmore J, Philips S, Vieira C, Gage P, Condie B, et al. PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain. Dev Biol. 2004;267:93-108 pubmed
    b>Pitx2, a homeodomain transcription factor, is essential for normal development of the pituitary gland, craniofacial region, eyes, heart, abdominal viscera, and limbs...
  63. Sheng X, Guo Y, Lu Y. Prognostic role of methylated GSTP1, p16, ESR1 and PITX2 in patients with breast cancer: A systematic meta-analysis under the guideline of PRISMA. Medicine (Baltimore). 2017;96:e7476 pubmed publisher
    ..However, the prognostic values of GSTP1, p16, ESR1, and PITX2 promoter methylation in breast cancer remain to be determined...
  64. Yang H, Lee Y, Joo C, Moon J, Mok J, Park M. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. Korean J Ophthalmol. 2015;29:249-55 pubmed publisher
    ..We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients...
  65. Reis L, Tyler R, Volkmann Kloss B, Schilter K, Levin A, Lowry R, et al. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012;20:1224-33 pubmed publisher
    ..We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions...
  66. Sohn K, Shi G, Jang S, Choi D, Lee Y, Yoon T, et al. Pitx2, a beta-catenin-regulated transcription factor, regulates the differentiation of outer root sheath cells cultured in vitro. J Dermatol Sci. 2009;54:6-11 pubmed publisher
    ..Beta-catenin exerts its crucial role in hair follicle development and hair growth cycle. Although the importance of Wnt/beta-catenin is well recognized, the downstream effectors of beta-catenin have not been clearly elucidated yet...
  67. Horn T, Rauscher I, Eiber M, Gschwend J, Maurer T. [PSMA-radioguided surgery in localised recurrent prostate cancer]. Urologe A. 2017;56:1417-1423 pubmed publisher
    Recently, prostate-specific membrane antigen radioguided surgery (PSMA-RGS) was introduced for targeted resection of localised prostate cancer recurrence...
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