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MicrophthalmosChromatinTranscription FactorsAnophthalmosTranscription, GeneticMicrophthalmia-Associated Transcription FactorDNA-Binding ProteinsPromoter Regions, GeneticChromatin Assembly and DisassemblyColobomaMolecular Sequence DataGene Expression RegulationBase SequenceChromatin ImmunoprecipitationSp1 Transcription FactorEye AbnormalitiesTranscriptional ActivationHistonesBinding SitesRepressor ProteinsNuclear ProteinsTrans-ActivatorsProtein BindingMutationRNA, MessengerHomeodomain ProteinsCell LineDNAGene Expression Regulation, DevelopmentalCell NucleusBasic Helix-Loop-Helix Transcription FactorsAmino Acid SequenceTranscription Factor AP-1Signal TransductionForkhead Transcription FactorsNucleosomesCell DifferentiationAphakiaHeLa CellsTransfectionSkin AbnormalitiesBasic-Leucine Zipper Transcription FactorsPaired Box Transcription FactorsTranscription Factor AP-2Cells, CulturedGenes, ReporterKruppel-Like Transcription FactorsPhenotypeTranscription Factors, TFIIReverse Transcriptase Polymerase Chain ReactionHelix-Loop-Helix MotifsAcetylationEnhancer Elements, GeneticRNA Polymerase IIBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsTranscription Initiation SiteAbnormalities, MultipleYY1 Transcription FactorTranscription Factor TFIIDMelanocytesSTAT3 Transcription FactorGATA4 Transcription FactorElectrophoretic Mobility Shift AssayGene Expression Regulation, FungalSaccharomyces cerevisiae ProteinsSaccharomyces cerevisiaeRegulatory Sequences, Nucleic AcidZinc FingersNFATC Transcription FactorsActivating Transcription Factor 3Monophenol MonooxygenaseGene Expression ProfilingSp3 Transcription FactorNF-kappa BLeucine ZippersProtein Structure, TertiaryRecombinant Fusion ProteinsPlasmidsSOXB1 Transcription FactorsEyeCell Line, TumorActivating Transcription Factor 2Transcription Factor TFIIBCloning, MolecularE2F1 Transcription FactorGene ExpressionDeoxyribonuclease IGATA1 Transcription FactorModels, BiologicalGene DeletionChromosomal Proteins, Non-HistoneMice, TransgenicGATA2 Transcription FactorDrosophila ProteinsGATA3 Transcription FactorPhosphorylationMEF2 Transcription FactorsModels, GeneticSequence Homology, Amino AcidLuciferases
RegulationMITFBrg1ProteinGeneticsMelanocyteRegulatesNuclearCellularImportantCellsStudiesPatientsRelativeMultipleAdditionalTranscriptional activationBasic helixComplexes promoteGenesDifferentiationMelanomaImmunoprecipitationFetalSubunitInducesGene familyRegulateEmbryonicOncogeneActivatesSyndromePromoterInteractNovoMutationsCancerCell
Regulation6
  • The protein encoded by this gene contains an AT-hook DNA binding motif, which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. (wikipedia.org)
  • The gene product is a DNA -binding protein that impacts transcription regulation via chromatin remodeling. (arizona.edu)
  • SOX2 is an intronless gene encoding a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. (thermofisher.com)
  • This complexity arises through extensive regulation at post-transcription level. (nccs.res.in)
  • In case of Plasmodium, due to relative paucity of the transcription factors, it is postulated that post-transcriptional regulation plays an important role in stage-specific gene expression. (nccs.res.in)
  • The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
MITF1
  • Here, we show that CREB-regulated transcription co-activator 3 (CRTC3) quantitatively regulates and orchestrates melanogenesis by directly targeting microphthalmia-associated transcription factor (MITF) and regulating the expression of most key melanogenesis-related genes. (thno.org)
Brg11
  • BRG1, the particular ATPase subunit from the chromatin re-designing complicated Switch/Sucrose non-fermentable (SWI/SNF), can often be connected to tumorigenesis along with genome uncertainty, and its position inside DSB repair is still mainly unclear. (anti-cancers.com)
Protein3
  • Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. (wikipedia.org)
  • Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. (molvis.org)
  • c-Kit has recently been found to trigger mitogen-activated protein kinase-mediated phosphorylation of Microphthalmia (Mi), a lineage- restricted transcription factor, which, like Steel factor and c-Kit, is essential for melanocyte development. (ox.ac.uk)
Genetics1
  • The actual restore involving DSBs demands small coordination between the factors modulating chromatin framework along with the Genetics repair machines. (anti-cancers.com)
Melanocyte1
  • During melanocyte development, the cytokine Steel factor activates its receptor c-Kit, initiating a signal transduction cascade, which is vital for lineage determination via unknown downstream nuclear targets. (ox.ac.uk)
Regulates1
  • Mi thus joins CREB as a transcription factor whose signal-responsive phosphorylation regulates coactivator recruitment, in this case modulating lineage development in melanocytes. (ox.ac.uk)
Nuclear2
  • Id2a-dependent defects in retinoblast proliferation lead to microphthalmia and to an absence of nearly all differentiated inner and outer nuclear layer cell types. (biologists.com)
  • Corynebacterium tuberculostearicum, a human skin colonizer, induces the canonical nuclear factor-kappaB inflammatory signaling pathway in human skin cells. (nationaljewish.org)
Cellular1
  • Ultraviolet radiation (UVR) is a high-threat factor for living organisms, damaging cellular components directly or indirectly by generating reactive oxygen/nitrogen species. (thno.org)
Important1
  • Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Cells1
  • Chromatin immunoprecipitations were performed with cross-linked chromatin from Raji cells and either BCOR (E6V3R) Rabbit mAb or Normal Rabbit IgG #2729 using SimpleChIP ® Plus Enzymatic Chromatin IP Kit (Magnetic Beads) #9005. (cellsignal.jp)
Studies1
  • in situations where an antibody will be used to support large, long-term studies, this can be an especially critical factor. (cellsignal.jp)
Patients1
  • A significant number of patients with uveal colobomas have an associated microphthalmia. (arizona.edu)
Relative1
  • The amount of immunoprecipitated DNA in each sample is represented as signal relative to the total amount of input chromatin, which is equivalent to one. (cellsignal.jp)
Multiple1
Additional1
  • In most cases, there is no clear correlation between clinical phenotype and genotype, suggesting the involvement of additional genetic or environmental factors. (molvis.org)
Transcriptional activation1
Basic helix1
  • SOX2 antibody detects SOX2 protein, a basic helix-loop-helix transcription factor (predicted molecular weight of 34 kDa). (genetex.com)
Complexes promote1
Genes4
  • It is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes tyrosinase and tyrosinase related protein 1. (activemotif.com)
  • The differential expression of several biologically important genes was confirmed using reverse transcription (RT)-quantitative PCR (qPCR). (molvis.org)
  • Gene Ontology analysis showed that genes upregulated in the epithelial cells were enriched for extracellular matrix production, cell division, migration, protein kinase activity, growth factor binding, and calcium ion binding. (molvis.org)
  • These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. (cancerindex.org)
Differentiation1
  • A mouse model lacking Tmem107 exhibited eye defects such as anophthalmia and microphthalmia, affecting retina differentiation. (journaltocs.ac.uk)
Melanoma1
  • We employed human epidermal melanocyte cell, mouse skin, and mouse melanoma cell, and applied Western blotting, reverse transcription-polymerase chain reaction, immunoprecipitation and confocal microscopy to conduct this study. (ijbs.com)
Immunoprecipitation1
  • Chromatin immunoprecipitation (ChIP) was performed using the ChIP-IT® High Sensitivity Kit (Cat. (activemotif.com)
Fetal1
  • 4. The BAF (BRG1/BRM-Associated Factor) chromatin-remodeling complex exhibits ethanol sensitivity in fetal neural progenitor cells and regulates transcription at the miR-9-2 encoding gene locus. (nih.gov)
Subunit2
Induces1
  • Corynebacterium tuberculostearicum, a human skin colonizer, induces the canonical nuclear factor-kappaB inflammatory signaling pathway in human skin cells. (nationaljewish.org)
Gene family2
  • Translocation carcinoma is a renal cell carcinoma (RCC) subtype that harbors a translocation involving a member of the microphthalmia transcription factor gene family. (medscape.com)
  • The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. (beds.ac.uk)
Regulate1
  • How do hypoxia-responsive factors such as CXCL12, VEGF-A and EPO regulate the vascular branching morphogenesis during neuro-vascular wiring formation? (nih.gov)
Embryonic1
  • SOX2 is an indispensable factor for regulating embryonic development and in the generation of inducible pluripotent stem (iPS) cells. (genetex.com)
Oncogene1
  • The role of two members of the ETS (E26 avian leukemia oncogene) family of transcription factors, ETS-1 and ETS-2, has been investigated in many cancers but has not yet been studied in ocular tumors. (molvis.org)
Activates1
  • UV-B radiation stabilizes and activates p53, a transcription factor that up-regulates the expression of pro-opiomelanocortin (POMC) [ 1 , 5 ]. (ijbs.com)
Syndrome2
  • The multiple congenital anomaly syndromes include Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, and the Lenz microphthalmia syndrome. (nih.gov)
  • The first disorder we studied was the Pallister-Hall syndrome, which we showed is caused by mutations in the GLI3 zinc finger transcription factor. (nih.gov)
Promoter2
  • In addition to α-MSH, the p53 transcription factor also occupies on the promoter region of other melanogenic hormones for maximal induction at epidermal keratinocytes, thus facilitating pigmentation in the skin [ 1 , 5 ]. (ijbs.com)
  • COUP-TFII stimulates the transcriptional activity of the rat cholesterol 7a-hydroxylase (CYP7A) promoter by binding to the nucleotide sequence located between 74 and 54 (relative to the transcription start site), which contains a direct repeat of two hormone response element half-sites separated by 4 nucleotides. (guidetopharmacology.org)
Interact1
Novo1
  • Advanced paternal age may be a factor in de novo cases. (arizona.edu)
Mutations2
  • Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. (genetex.com)
  • SDS results from biallelic mutations in SBDS, which encodes a ribosome assembly factor. (journaltocs.ac.uk)
Cancer1
  • 20. Involvement of the chromatin-remodeling factor BRG1/SMARCA4 in human cancer. (nih.gov)
Cell2
  • 17. The BRG1 ATPase of chromatin remodeling complexes is involved in modulation of mesenchymal stem cell senescence through RB-P53 pathways. (nih.gov)
  • General transcription factor TAF4 antagonizes epigenetic silencing by Polycomb to maintain intestine stem cell functions. (canceropole-est.org)