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Transcription FactorsTranscription, GeneticDNA-Binding ProteinsPromoter Regions, GeneticPaired Box Transcription FactorsPAX2 Transcription FactorSp1 Transcription FactorGene Expression RegulationMolecular Sequence DataBase SequenceHomeodomain ProteinsTranscriptional ActivationBinding SitesTrans-ActivatorsRepressor ProteinsBasic Helix-Loop-Helix Transcription FactorsRNA, MessengerNuclear ProteinsProtein BindingGene Expression Regulation, DevelopmentalTranscription Factor AP-1PAX7 Transcription FactorForkhead Transcription FactorsCell LineSignal TransductionAmino Acid SequenceDNAMutationBasic-Leucine Zipper Transcription FactorsCell DifferentiationTranscription Factor AP-2PAX9 Transcription FactorCell NucleusTransfectionKruppel-Like Transcription FactorsTranscription Factors, TFIIGenes, ReporterChromatin ImmunoprecipitationHeLa CellsYY1 Transcription FactorCells, CulturedSTAT3 Transcription FactorGATA4 Transcription FactorTranscription Factor TFIIDReverse Transcriptase Polymerase Chain ReactionActivating Transcription Factor 3NFATC Transcription FactorsTranscription Initiation SiteElectrophoretic Mobility Shift AssaySp3 Transcription FactorEnhancer Elements, GeneticNF-kappa BZinc FingersActivating Transcription Factor 2Transcription Factor TFIIBRegulatory Sequences, Nucleic AcidGene Expression ProfilingCloning, MolecularE2F1 Transcription FactorRNA Polymerase IIRecombinant Fusion ProteinsBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsPlasmidsMEF2 Transcription FactorsGene ExpressionGATA3 Transcription FactorMicrophthalmia-Associated Transcription FactorTCF Transcription FactorsGATA1 Transcription FactorGATA2 Transcription FactorGene Expression Regulation, FungalGATA Transcription FactorsProtein Structure, TertiaryLuciferasesB-Cell-Specific Activator ProteinSTAT1 Transcription FactorActivating Transcription FactorsCell Line, TumorEye ProteinsChromatinPhosphorylationHelix-Loop-Helix MotifsTranscription Factor RelAOligonucleotide Array Sequence AnalysisE2F Transcription FactorsModels, BiologicalSequence Homology, Amino AcidSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsMice, KnockoutGene Expression Regulation, PlantTranscription Factor 7-Like 1 ProteinMice, TransgenicGATA6 Transcription FactorActivating Transcription Factor 4Activating Transcription Factor 1Blotting, WesternCyclic AMP Response Element-Binding ProteinProto-Oncogene ProteinsIn Situ Hybridization
Pax5Pax8ProteinFibroblast growthMutationsUrogenital systemAutosomal-dominantRenal cell carcEncodesOptic nerveSignaling moleculesDistalVariantsSox2EmbryosHeterozygousMiceHepatocyteKidneysReceptorsEpithelialSensoryGenes encodeAdultEncodeBindsDisorderHomeoboxProteinsGene expressionRegulateDevelopmentLambdaAuditoryNephronSpecificationRoleExpressionBiologicalDomainMetanephric mesenchymeApproximatelyCellTargetsTumorRegulatoryIntermediateHuman2016Stem cellsUreteric bud
Pax55
  • Pax2 along with other transcription factors Pax5, Pax8, En1, and En 2 are expressed across the Otx2-Gbx2 boundary in the mid-hindbrain region. (wikipedia.org)
  • The activation of Pax2, Pax5, and Pax8 is a conserved feature of all vertebrates. (wikipedia.org)
  • Bouchard M, Pfeffer P, Busslinger M. Functional equivalence of the transcription factors Pax2 and Pax5 in mouse development. (medecinesciences.org)
  • Nutt SL, Heavey B, Rolink AG, Busslinger M. Commitment to the Blymphoid lineage depends on the transcription factor Pax5. (medecinesciences.org)
  • Transcription profiling of chicken Pax5 deficient DT40 B cell line to investigate the targets of Pax5 which is required for B-cell differentiation Used in cross-species comparison to investigate evolutionarily conserved regulatory circuits in B cell development Pax5 deficient DT40 B cells (3 biological replicates) were compared to DT40 wild-type cells (3 biological replicates). (omicsdi.org)
Pax83
  • Pax2 and Pax8 are also necessary for the formation of the pronephros and subsequent kidney structures. (wikipedia.org)
  • Pax2 and Pax8 regulate the expression of Gata3. (wikipedia.org)
  • They reported the expression patterns in the developing kidney for herbivorous mammals in reference to the omnivorous rodent, showing that WT1 is involved in nephron development, and that Pax2, Pax8, and HNF1β are involved in nephron maturation and collecting duct formation. (mdpi.com)
Protein10
  • Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene. (wikipedia.org)
  • The PAX2 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. (medlineplus.gov)
  • On the basis of this role, the PAX2 protein is called a transcription factor. (medlineplus.gov)
  • After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress. (medlineplus.gov)
  • Variants in the PAX2 gene lead to the production of a nonfunctional PAX2 protein that is unable to aid in development, causing incomplete formation of certain tissues. (medlineplus.gov)
  • these include the LIM domain protein LIN-11 , the Pax2/5/8 protein EGL-38 , the zinc finger protein LIN-29 , and the Nkx6.1/6.2 protein COG-1. (wormbook.org)
  • In kidneys of normal adult, Pax2 protein expression is limited to nuclei of collecting ducts and to a lesser extent in distal tubules. (celltechgen.com)
  • A heterozygous mutation defect of the growth factor bone morphogenetic protein 4 (bmp 4) leads to renal hypoplasia or dysplasia, ureterovesicular junction obstruction, hydronephrosis, or the bifid/duplex kidney. (medscape.com)
  • This protein complex has also been implicated in regulating a number of signaling pathways, including Wnt, mammalian target of rapamycin (mTOR), STAT3, cMET, phosphoinositide 3-kinase (PI3K)/AKT, G protein-coupled receptor (GPCR), and epidermal growth factor receptor (EGFR), as well as in the localization and activity of cystic fibrosis transmembrane conductance (CFTR). (basicmedicalkey.com)
  • Pax5A transcription factor is the major isoform of B-cell-specific activator protein. (nih.gov)
Fibroblast growth4
  • Concentration gradients of fibroblast growth factor 8 (FGF8) and Wingless-Type MMTV Integration Site Family, Member 1 (Wnt1) control expression of Pax-2 during development of the Mesencephalon, or midbrain. (wikipedia.org)
  • Similar patterning during embryological development can be observed in "basal chordates or ascidians," in which organization of the central nervous system in ascidian larvae are also controlled by fibroblast growth factor genes. (wikipedia.org)
  • Transcription factors such as EMX-2, BF-2, fibroblast growth factor 7 (FGF 7), epithelial growth factor receptor (EGF-R), GDNF, retinoic acid receptor alpha, and beta 2 are involved in the branching of the ureteric bud. (medscape.com)
  • Meanwhile, the ureteric bud secretes Wnt-9b and fibroblast growth factor 9 (FGF9), which differentiate the metanephric mesenchyme into pretubular aggregates. (j-organoid.org)
Mutations6
  • Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. (wikipedia.org)
  • Renal coloboma syndrome is caused by variants (also known as mutations) in the PAX2 gene. (medlineplus.gov)
  • However, mutations in the paired-box transcription factor ( PAX2 ) have been seen even in persons with nonsyndromic oligomeganephronia. (medscape.com)
  • Heterozygous PAX2 mutations have been detected in one third of children with oligomeganephronia. (medscape.com)
  • [ 1 ] Mutations in the homeobox transcription factor (hepatocyte nuclear factor-1 β) have been described in association with oligomeganephronia. (medscape.com)
  • To facilitate further analysis of PAX2 mutations in human disease, we have now determined the complete structure of the human PAX2 gene. (uni-kiel.de)
Urogenital system1
  • Pax2 is a paired box transcription factor expressed in a spatially and temporally restricted manner and its absence results in major developmental defects of the central nervous system, eyes, ears and urogenital system. (unige.ch)
Autosomal-dominant1
  • Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). (nih.gov)
Renal cell carc3
  • For example, Pax2 is highly expressed in polycystic kidney disease (PKD), Wilms' tumor (WT), and renal cell carcinoma (RCC). (wikipedia.org)
  • PAX2 is expressed in early kidney organogenesis as well as in Wilms' tumor and renal cell carcinoma. (celltechgen.com)
  • PAX2 can be useful in the diagnosis of renal cell carcinoma. (celltechgen.com)
Encodes3
  • PAX2 encodes for the transcription factor which appears to be essential in the organization of the midbrain and hindbrain regions, and at the earliest can be detected on either side of the sulcus limitans, which separates motor and sensory nerve nuclei. (wikipedia.org)
  • PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. (wikipedia.org)
  • PAX2 encodes a transcription factor that has a critical role in the development of the urogenital tract, the eyes, and the CNS. (uni-kiel.de)
Optic nerve2
  • Recently, we reported a mutation of PAX2 in patients with optic nerve coloboma, vesicoureteric reflux, and renal anomalies. (uni-kiel.de)
  • demonstrated that ectopic expression of Pax2 in the ventral optic nerve cup prevents choroidal fissure closure [ 14 ]. (biomedcentral.com)
Signaling molecules2
Distal1
  • Expression at the MHB from the four-somite stage onwards is directed by the two late enhancers in the proximal and distal regions of Pax2. (wikipedia.org)
Variants1
  • Why the kidneys and eyes are specifically affected by PAX2 gene variants is unclear. (medlineplus.gov)
Sox24
  • Additionally, various transcription factors belonging to the Pax2/5/8 and Sox2/3 families modify the response to Fgf to help establish different kinds of cell types. (tamu.edu)
  • 1) We will study how the related factors Sox2 and Sox3 regulate early development of the inner ear. (tamu.edu)
  • These studies will rely on transgenic lines in which Sox2 or Sox3, or other factors of interest, can be overexpressed by simply incubating embryos at elevated temperatures. (tamu.edu)
  • 2) We will study how Fgf, Pax2/5 and Sox2 function in the maintenance and regeneration of sensory hair cells. (tamu.edu)
Embryos1
  • No Pax2/5/8 expression was observed in the less centralized CNS of bivalve, polyplacophoran, and gastropod embryos, thus arguing for a loss of Pax2/5/8 involvement in CNS development in these lineages. (biomedcentral.com)
Heterozygous1
  • Its absence, as assessed in Pax2(1Neu) mutant mice, results in a two- to threefold increase in the average pancreas volume occupied by the islets in both heterozygous and homozygous mutant mice with a gene-dependent dosage effect. (unige.ch)
Mice1
  • Pax2 mutant mice display increase. (unige.ch)
Hepatocyte3
  • Pathologically, Pax2 has been demonstrated to activate hepatocyte growth factor (HGF) gene promoter, and both have been indicated as playing a role in human prostate cancers. (wikipedia.org)
  • In characterizing the molecular differentiation of developing peripheral auditory structures, we discovered that hepatocyte growth factor ( Hgf ) is expressed in the future stria vascularis of the cochlear epithelium. (jneurosci.org)
  • SIGNIFICANCE STATEMENT We found the roles of hepatocyte growth factor (HGF) signaling in stria vascularis development for the first time and that lack of HGF signaling in the inner ear leads to profound hearing loss in the mouse. (jneurosci.org)
Kidneys2
  • Transcription factor 2 ( TCF2 ) is responsible for numerous malformations that involve the kidneys. (medscape.com)
  • investigated the period and location of expression of transcription factors in fetal lamb and adult ewe kidneys. (mdpi.com)
Receptors1
  • Type I Cytokine Receptors include interleukin receptors, colony stimulating factor receptors, and hormone receptors whereas Type II Cytokine Receptors include inter feron receptors and cytokine receptors that bind to interleukin-10 family. (pharna.com)
Epithelial1
  • Christophorou N, Mende M, Lleras-Forero L, Grocott T, Streit A (2010) Pax2 coordinates epithelial morphogenesis and cell fate in the inner ear. (springer.com)
Sensory3
  • Pax2/5/8 is expressed in regions where sensory cells develop subsequently during ontogenesis. (biomedcentral.com)
  • In addition, Pax2/5/8 is expressed in multimodal sensory systems in mollusks such as the esthetes and the ampullary system of polyplacophorans as well as the eyes of cephalopods. (biomedcentral.com)
  • Pax2/5/8 -expressing cells are present in regions where the future sensory cells such as the polyplacophoran esthetes are situated and hence Pax2/5/8 expression probably predates sensory cell development during ontogeny. (biomedcentral.com)
Genes encode2
Adult1
  • We recently reported that Pax2 is expressed in pancreatic endocrine cell lines and adult islets of Langerhans and activates glucagon gene expression. (unige.ch)
Encode1
Binds1
  • The glial cell line-derived neurotrophic factor (GDNF) from the metanephric mesenchyme binds to the C-ret receptor on the branching ureteric bud and is responsible for the branching and elongation of the ureteric bud. (medscape.com)
Disorder4
  • Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. (nih.gov)
  • We conclude that PAX2-related disorder has a variable clinical presentation and can be diagnosed by next-generation sequencing even in the absence of typical RCS manifestations. (nih.gov)
  • Bower MA, Schimmenti LA, Eccles MR. PAX2-Related Disorder. (medlineplus.gov)
  • Pseudo-Bartter/Gitelman syndrome (PBS/PGS) is a disorder that presents with hypokalemia and metabolic alkalosis resembling Gitelman syndrome (GS) due to secondary factors, such as lifestyle and /or medicines. (bvsalud.org)
Homeobox1
  • The anterior intermediate mesoderm, which expresses LIM homeobox 1 ( Lhx1 ) and paired box gene 2 ( Pax2 ), develops into the ureteric bud lineage, which forms the ureteric epithelium through branching and growth. (j-organoid.org)
Proteins2
  • Pax proteins are subdivided into four subfamilies: group I (Pax1and 9), II (Pax2, 5, and 8), III (Pax3 and 7), and IV (Pax4 and 6), based on the presence of a paired domain, an octapeptide motif and part or all of the homeodomain. (pasteur.fr)
  • Cytokines are a family of cell signaling proteins that include Chemokines, Interleukins, Tumor Necrosis Factors (TNFs), Transforming Growth Factors (TGFs), Inter ferons, and Colony Stimulating Factors (CSFs). (pharna.com)
Gene expression2
  • 4 Acute hyperglycaemia leads to chronic metabolic and haemodynamic derangements, 5 which trigger chromatin structural changes, transcription factor activation, and gene expression. (emjreviews.com)
  • Our results, along with those on Otx - and Hox -gene expression, demonstrate that the cephalopod condition is similar to that in mouse and fruit fly, with Otx being expressed in the anterior-most brain region (except for the vertical lobe) and a Pax2/5/8 expression domain separating the Otx -domain from a Hox -gene-expressing posterior brain region. (biomedcentral.com)
Regulate1
  • These factors are known to regulate initial development, but we will now use a new technology (''photo-MOs'') that permit analysis of later functions. (tamu.edu)
Development8
  • The transcription factor gene PAX2 is important in the regionalized embryological development of the central nervous system. (wikipedia.org)
  • We have shown here that the Pax2 gene is expressed during pancreas development as early as embryonic day 10.5. (unige.ch)
  • The pax genes are a family of transcription factors that are active in specific tissues during early embryonic development. (thermofisher.com)
  • Paired Box 2 (PAX2) is a transcription factor that is essential for kidney development. (celltechgen.com)
  • On day E10.5 of murine development, the metanephric mesenchyme secretes glial cell line-derived neurotrophic factor (GDNF). (j-organoid.org)
  • A paired box transcription factor that has important functions in the development of the eye, nose, central nervous system and pancreas. (jefferson.edu)
  • Previous studies have demonstrated that transcription factors such as Pax genes play important roles during their development. (biomedcentral.com)
  • Pax2/5/8 expression was investigated by in situ hybridization during the development of representatives of the two major molluscan subclades, Aculifera and Conchifera. (biomedcentral.com)
Lambda1
  • Five genomic lambda clones containing human PAX2 gene sequences were isolated. (uni-kiel.de)
Auditory1
  • Accordingly, in ecdysozoan and vertebrate model organisms, orthologs of Pax2/5/8 are among others involved in the formation of the midbrain/hindbrain boundary, the auditory/geosensory organ systems, and the excretory system. (biomedcentral.com)
Nephron1
  • The interstitial stroma, another subcompartment of the metanephric nephron, is characterized by the expression of the transcription factor forkhead box D1 ( Foxd1 ). (j-organoid.org)
Specification1
  • A coordinated tempo-spatial expression of transcription factors is required for cell type specification and the differentiation of the three germ layers into distinct organ systems during bilaterian ontogeny [ 1 ]. (biomedcentral.com)
Role4
  • Due to its role in these diseases, Pax2 is an attractive therapeutic target and a number of methods for inhibiting its activity have been investigated. (wikipedia.org)
  • These data will be useful in characterizing the role of PAX2 in human disease. (uni-kiel.de)
  • 3) We will investigate the role of the transcription factor Tfap2a in formation of neurons. (tamu.edu)
  • In mollusks, Pax2/5/8 is only expressed in derivatives of the ectoderm and hence an ancestral role in molluscan ectoderm differentiation is inferred. (biomedcentral.com)
Expression8
  • Transgene expression of the mid-hindbrain and developing kidney is directed by Pax2. (wikipedia.org)
  • Pax2 expression in these diseases appears fuel cell cycling, inhibit cell death, and confer resistance to chemotherapy. (wikipedia.org)
  • The transcription factor Bcl6 is required for germinal center formation and deregulated expression of Bcl6 has been observed in lymphomas. (omicsdi.org)
  • Regulatory factors (RF) potentially involved in the expression differences were identified by calculating the regulatory impact factors . (biomedcentral.com)
  • HIF-1α could bind to the promoter region of proliferating cell nuclear antigen ( PCNA ) and PROM1 (CD133) to mediate their transcription and expression. (bjbms.org)
  • Induction of antisense Pax-3 expression leads to the rapid morphological differentiation of neuronal cells and an altered response to the mitogenic growth factor bFGF. (jefferson.edu)
  • For inferences concerning the evolutionary conservation versus plasticity of transcription factor expression patterns and their putative roles, a broad comparative approach is imperative. (biomedcentral.com)
  • Promoters are a key factor determining the expression dynamics of transgenes, and various promoters are being studied in neuronal cells. (biomedcentral.com)
Biological1
  • Transcription factors and regulatory mechanisms are proposed for these altered biological functions. (biomedcentral.com)
Domain2
  • The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. (wikipedia.org)
  • EG1 is an inhibitor of Pax2 transcription activation with a small molecule that targets the DNA binding domain. (csnpharm.cn)
Metanephric mesenchyme2
  • During nephrogenesis, multiple genes, transcription factors, and growth factors control the essential interaction between the ureteric bud and the metanephric mesenchyme. (medscape.com)
  • WT-1, a zinc-finger transcription factor expressed in the metanephric mesenchyme, is essential for ureteric bud outgrowth. (medscape.com)
Approximately2
  • Approximately half of those affected with renal coloboma syndrome do not have an identified variant in the PAX2 gene. (medlineplus.gov)
  • Sequencing and restriction mapping of these clones showed that human PAX2 was composed of 12 exons spanning approximately 70 kb. (uni-kiel.de)
Cell2
  • The anchor cell induces nearby epidermal precursor cells to generate vulval cells via an epidermal growth factor (EGF) signaling pathway. (wormbook.org)
  • A paired box transcription factor that is essential for CELL DIFFERENTIATION of B-LYMPHOCYTES . (nih.gov)
Targets1
  • The location specific Wnt signatures are dominated by genes which have been lowly expressed in the tissue of origin, and are the targets of transcription factors that are activated following enhanced Wnt signalling. (biomedcentral.com)
Tumor2
  • PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1. (wikipedia.org)
  • Finally, the Tumor Necrosis Factor Receptor Family include immune checkpoint molecules such as CD27, tumor markers such as CD30, and co-stimulatory molecules such as CD40. (pharna.com)
Regulatory1
  • The objective of this work was the evaluation of muscle transcriptome profile in piglets of both genetic types, in order to identify genes, pathways and regulatory factors responsible for their phenotypic differences. (biomedcentral.com)
Intermediate1
  • The metanephros originates from the intermediate mesoderm, which expresses odd-skipped related transcription factor 1 ( Osr1 ). (j-organoid.org)
Human1
  • Genomic structure of the human PAX2 gene. (uni-kiel.de)
20161
  • We conducted a retrospective, longitudinal, population-based cohort study using data from infant health examinations of children born to mothers with pregnancies between April 1, 2014 and March 31, 2016 in Kobe City to identify the perinatal factors associated with neurodevelopmental referrals in 3-year-old children. (bvsalud.org)
Stem cells1
  • The effect and molecular mechanism of hypoxia-inducible factor 1-alpha (HIF-1α) on the proliferation and apoptosis of renal stem cells were also explored. (bjbms.org)
Ureteric bud2
  • For example, the Lim1 and Pax2 transcription factors are essential for the formation of the mesonephric duct, from which the ureteric bud develops. (medscape.com)
  • This factor promotes the growth and branching of the ureteric bud. (j-organoid.org)