• Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene. (wikipedia.org)
  • MITF is a basic helix-loop-helix leucine zipper transcription factor involved in lineage-specific pathway regulation of many types of cells including melanocytes, osteoclasts, and mast cells. (wikipedia.org)
  • MITF, together with transcription factor EB (TFEB), TFE3 and TFEC, belong to a subfamily of related bHLHZip proteins, termed the MiT-TFE family of transcription factors. (wikipedia.org)
  • The gene that encodes for MITF resides at the mi locus in mice, and its protumorogenic targets include factors involved in cell death, DNA replication, repair, mitosis, microRNA production, membrane trafficking, mitochondrial metabolism, and much more. (wikipedia.org)
  • Known target genes (confirmed by at least two independent sources) of this transcription factor include, Additional genes identified by a microarray study (which confirmed the above targets) include the following, The LysRS-Ap4A-MITF signaling pathway was first discovered in mast cells, in which, the A mitogen-activated protein kinase (MAPK) pathway is activated upon allergen stimulation. (wikipedia.org)
  • Microphthalmia-associated transcription factor (MITF) is a master transcription factor in melanogenesis. (frontiersin.org)
  • Through proteome-profiling, attenuation of the microphthalmia-associated transcription factor (MITF) signaling pathway was linked to the observed anti-cancer effects of ACY-1215. (biorxiv.org)
  • The microphthalmia-associated transcription factor (MITF) is a critical regulator of melanocyte development and differentiation. (uzh.ch)
  • The Microphthalmia-associated Transcription Factor (MiT) family proteins (MITF, TFEB, TFE3, TFEC) are considered master regulators of autophagy and lysosomal biogenesis and their activity is regulated in response to nutrient availability, therefore connecting cellular metabolism with ALP function. (eurac.edu)
  • [ 4 ] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. (medscape.com)
  • 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)
  • MITF (microphthalmia transcription factor) is a basic helix-loop-helix-leucine-zipper (bHLH-Zip) transcription factor that regulates the development and survival of melanocytes and retinal pigment epithelium, and also is involved in transcription of pigmentation enzyme genes such as tyrosinase TRP1 and TRP2. (gentaur.uk)
  • Melanoma progression, like many other cancers, is accompanied by loss of differentiation programs and increase in cell plasticity including invasion, which also correlates with decreased levels of microphthalmia-associated transcription factor (MITF) (13, 14). (bioinf.org)
  • In their paper, "The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function," García-Llorca et al use the Phoenix MICRON ® IV to examine the outer eye appearance, retinal pigmentation, and retinal vasculature through fluorescein angiography to study several different mouse mutants. (phoenixmicron.com)
  • The microphthalmia-associated transcription factor ( Mitf ) gene and its role in regulating eye function. (phoenixmicron.com)
  • Increases the decrease in MITF (microphthalmia-associated transcription factor), which, in turn, reduces the production of melanogenic factors. (beautifox.uk)
  • The mutations that cause Peters anomaly reduce the PAX6 protein's ability to bind to DNA, disrupting its role as a transcription factor. (medlineplus.gov)
  • These mutations reduce but do not eliminate the protein's normal function, impairing its role as a transcription factor. (medlineplus.gov)
  • Mutations in one copy of the PAX6 gene can cause microphthalmia, which describes eyes that are smaller than usual. (medlineplus.gov)
  • Mutations in the SOX2 gene have been associated with bilateral anophthalmia, a severe form of structural eye malformation, optic nerve hypoplasia and syndromic microphthalmia. (thermofisher.com)
  • They are caused by genetic translocations which fuse transcription factor genes, TFE3 or TFEB, with a promoter region leading to overexpression of the transcription factor. (dundee.ac.uk)
  • TFE3 and TFEB are members of the MiT family of transcription factors. (dundee.ac.uk)
  • Suppresses factors of melanogenesis, tyrosinase, TRP-1 (Tryptophan amino acid) and TRP-2 (Tryptophan amino acid). (beautifox.uk)
  • 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)
  • 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)
  • The forkhead box D3 ( FOXD3 ) gene encodes a forkhead transcription factor that plays an important role in neural crest specification in vertebrates and therefore may be involved in human eye disease. (molvis.org)
  • 6 ], the transforming growth factor beta 1 ( Tgfβ1 ) gene and several collagen genes were significantly downregulated in 8-week-old B6 mice scleras when compared with 3-week-old B6 mice scleras. (molvis.org)
  • 10.Babal YK, Kandemir B, Aksan Kurnaz I. (2021) Gene regulatory network of ETS domain transcription factors in different stages of glioma. (gtu.edu.tr)
  • 9.Savasan Sogut M, Venugopal C, Kandemir B, Gulfidan G, Yilmaz B, Arga KY, Singh S, Aksan Kurnaz I. (2021) ETS domain transcription factor Elk-1 regulates stemness genes in brain tumors and CD133+ brain tumor initiating cells (BTIC). (gtu.edu.tr)
  • Bardakjian TM, Schneider A. The genetics of anophthalmia and microphthalmia. (jefferson.edu)
  • Since it is a transcription factor that is involved in the regulation of genes related to invasiveness, migration, and metastasis, it can play a role in the progression of melanoma. (wikipedia.org)
  • The heterogeneous expression of markers, together with their rare frequency (1-10 CTCs in 8 mL of blood) are the main intrinsic factors hampering CTC isolation and limiting in-depth study of these cells in patients with melanoma. (nature.com)
  • This project aims at shedding light on a potential mechanistic role of the MiT transcription factor pathway in relation to cellular and mitochondrial health in the etiology of PD and seeks to identify novel targets with the capacity to upregulate the MiT pathway and to increase degradation of aggregates and defective organelles, which may serve as therapeutic approach. (eurac.edu)
  • This unique mesotherapeutic anti-aging cocktail, which includes growth factors and peptides, is used to even out skin tone and color, as well as eliminate hyperpigmentation. (beautifox.uk)
  • 12. Kandemir B, Davis S, Yigit EN, Ozturk G, Yilmaz B, Laroche S, Aksan Kurnaz I. (2020) Expression of Pea3 protein subfamily in hippocampus and potential role in LTP. (gtu.edu.tr)
  • A basic helix-loop-helix leucine zipper (bHLHZ) transcription factor and proto-oncogene protein that functions in cell growth and proliferation. (bvsalud.org)
  • In addition, current and future research can lead to potential avenues to target this transcription factor mechanism for cancer prevention. (wikipedia.org)
  • The RPE is essential for normal retinal structure and function and studies such as these examining the various genetic factors affecting the RPE clarify the role of the RPE in normal and dysfunctional eyes. (phoenixmicron.com)
  • Additionally, UV radiation contributes to direct DNA damage, the formation of reactive oxygen species, and the production of epidermal cytokines, growth factors, and neuropeptides. (medscape.com)
  • Stem cell factor (SCF) introduction by crossing with KRT14-SCF mice increased epidermal melanocytes and melanin deposition in control and CRTC3-null mice, but the skin color remained still light on the CRTC3-null background. (thno.org)
  • 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)
  • A paired box transcription factor that has important functions in the development of the eye, nose, central nervous system and pancreas. (jefferson.edu)
  • SOX2 is necessary for regulating multiple transcription factors that affect Oct 3/4 expression. (thermofisher.com)
  • 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)
  • The factors are able to form stable DNA-binding homo- and heterodimers. (wikipedia.org)
  • 2. Yigit EN, Sonmez E, Cakir ZB, Aksan Kurnaz I, Cakir T (2023) Transcriptome study identifies quercetin and rutin as repurposed drugs for Parkinson Disease in vitro 6-OHDA model. (gtu.edu.tr)
  • 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)
  • Vertebrate MAX protein, a transcription regulator that forms a sequence- specific DNA-binding protein complex with myc or mad. (embl.de)
  • Mechanistically, BMAL1 knockdown reduces PER1 transcription, and PER1 silencing induces phosphorylation of the master regulator of melanogenesis, microphthalmia-associated transcription factor, thus stimulating human melanogenesis and melanocyte activity in situ and in vitro. (hud.ac.uk)
  • Melanocyte inducing transcription factor helps control the development and function of pigment-producing cells called melanocytes. (medlineplus.gov)
  • Additionally, melanocyte inducing transcription factor regulates the development of specialized cells in the eye called retinal pigment epithelial cells. (medlineplus.gov)
  • Some research indicates that melanocyte inducing transcription factor also regulates the development of cells that break down and remove bone (osteoclasts) and cells that play a role in allergic reactions (mast cells). (medlineplus.gov)
  • The structure of melanocyte inducing transcription factor includes three critically important regions. (medlineplus.gov)
  • Dimers incorporating the abnormal melanocyte inducing transcription factor cannot be transported into the cell nucleus to bind with DNA. (medlineplus.gov)
  • 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)
  • Mammalian transcription factors HES, which repress transcription by acting on two types of DNA sequences, the E box and the N box. (embl.de)
  • Mammalian Upstream Stimulatory Factor 1 and 2 (USF1 and USF2), which bind to a symmetrical DNA sequence that is found in a variety of viral and cellular promoters. (embl.de)
  • The RPEs absorb stray light, transport the nutrients from the choroidal side to neural retina, regulate visual cycle and secrete various trophic factors maintaining retinal homeostasis [ 2 ]. (biomedcentral.com)
  • SOX2 is an indispensable factor for regulating embryonic development and in the generation of inducible pluripotent stem (iPS) cells. (genetex.com)
  • This intronless gene encodes 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. (genetex.com)
  • Vertebrate neurogenic differentiation factor 1 that acts as differentiation factor during neurogenesis. (embl.de)
  • 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)
  • Since it is a transcription factor that is involved in the regulation of genes related to invasiveness, migration, and metastasis, it can play a role in the progression of melanoma. (wikipedia.org)
  • 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)
  • So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). (nature.com)
  • In the paper, Brooks describes two unrelated cases of children born with COMMAD, which stands for coloboma (a condition where normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones that are prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of melanin in the skin, hair, and eyes) and deafness. (nih.gov)
  • Human transcription factor AP-4. (embl.de)
  • Epigenomic mapping identifies an enhancer repertoire that regulates cell identity in bladder cancer through distinct transcription factor networks. (canceropole-est.org)
  • General transcription factor TAF4 antagonizes epigenetic silencing by Polycomb to maintain intestine stem cell functions. (canceropole-est.org)
  • A paired box transcription factor that has important functions in the development of the eye, nose, central nervous system and pancreas. (jefferson.edu)
  • Wet AMD development is strongly associated with the vascular endothelial growth factor (VEGF)-derived aberrant blood vessels sprout from the choroidal capillaries that penetrate through the Bruch's membrane and RPE into subretinal space. (biomedcentral.com)
  • In addition, current and future research can lead to potential avenues to target this transcription factor mechanism for cancer prevention. (wikipedia.org)