Pigmentation |
DCT88 Kingo K, Aunin E, Karelson M, Philips MA, Ratsep R, Silm H, et al. Gene expression analysis of melanocortin system in vitiligo. J Dermatol Sci. 2007;48:113-22.,3030 Regazzetti C, Joly F, Marty C, Rivier M, Mehul B, Reiniche P, et al. Transcriptional Analysis of Vitiligo Skin Reveals the Alteration of WNT Pathway: A Promising Target for Repigmenting Vitiligo Patients. J Invest Dermatol. 2015;135:3105-14.
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Involved in regulating eumelanin and pheomelanin levels |
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MC1R 88 Kingo K, Aunin E, Karelson M, Philips MA, Ratsep R, Silm H, et al. Gene expression analysis of melanocortin system in vitiligo. J Dermatol Sci. 2007;48:113-22.
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Encodes the receptor protein for melanocyte-stimulating hormone (MSH); controls melanogenesis |
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MC4R 88 Kingo K, Aunin E, Karelson M, Philips MA, Ratsep R, Silm H, et al. Gene expression analysis of melanocortin system in vitiligo. J Dermatol Sci. 2007;48:113-22.
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Encoded a protein that interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins |
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POMC88 Kingo K, Aunin E, Karelson M, Philips MA, Ratsep R, Silm H, et al. Gene expression analysis of melanocortin system in vitiligo. J Dermatol Sci. 2007;48:113-22.
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Encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage. One peptide produced from the POMC protein is a-MSH involved in regulating the pigment-producing cells of the skin and hair (melanocytes), where it binds to melanocortin 1 receptor (MC1R) |
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TYRP188 Kingo K, Aunin E, Karelson M, Philips MA, Ratsep R, Silm H, et al. Gene expression analysis of melanocortin system in vitiligo. J Dermatol Sci. 2007;48:113-22.,3030 Regazzetti C, Joly F, Marty C, Rivier M, Mehul B, Reiniche P, et al. Transcriptional Analysis of Vitiligo Skin Reveals the Alteration of WNT Pathway: A Promising Target for Repigmenting Vitiligo Patients. J Invest Dermatol. 2015;135:3105-14.
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Encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway |
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MLANA3030 Regazzetti C, Joly F, Marty C, Rivier M, Mehul B, Reiniche P, et al. Transcriptional Analysis of Vitiligo Skin Reveals the Alteration of WNT Pathway: A Promising Target for Repigmenting Vitiligo Patients. J Invest Dermatol. 2015;135:3105-14.
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Involved in melanosome biogenesis |
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PHACTR22727 Goldstein BA, Hubbard AE, Cutler A, Barcellos LF. An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings. BMC Genet. 2010:11:49.
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Phosphatase and actin regulator 2 |
Apoptosis |
BAX2525 Baltadzhiev IG, Delchev SD. Changes of Bcl-2, Bax and Caspase-3 expression in the dermal microvascular endothelial cells and the epidermal layers of the eschar (tache noire) in patients with Mediterranean spotted fever. Folia Histochem Cytobiol. 2013;51:121-6.
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BCL2-associated X protein that acts as an anti- or pro-apoptotic regulator that is involved in a wide variety of cellular activities |
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BCL299 Kingo K, Aunin E, Karelson M, Ratsep R, Silm H, Vasar E, et al. Expressional changes in the intracellular melanogenesis pathways and their possible role in the pathogenesis of vitiligo. J Dermatol Sci. 2008;52:39-46.,2525 Baltadzhiev IG, Delchev SD. Changes of Bcl-2, Bax and Caspase-3 expression in the dermal microvascular endothelial cells and the epidermal layers of the eschar (tache noire) in patients with Mediterranean spotted fever. Folia Histochem Cytobiol. 2013;51:121-6.
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Encodes an integral outer mitochondrial membrane protein that blocks apoptotic death |
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BCL32626 Chang TP, Vancurova I. Bcl3 regulates pro-survival and pro-inflammatory gene expression in cutaneous T-cell lymphoma. Biochim Biophys Acta. 2014;1843:2620-30.
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Involved in the regulation of cell proliferation and contributes to transcriptional regulation of NFKB |
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CASP32525 Baltadzhiev IG, Delchev SD. Changes of Bcl-2, Bax and Caspase-3 expression in the dermal microvascular endothelial cells and the epidermal layers of the eschar (tache noire) in patients with Mediterranean spotted fever. Folia Histochem Cytobiol. 2013;51:121-6.,2929 Lee AY Youm YH, Kim NH, Yang H, Choi WI. Keratinocytes in the depigmented epidermis of vitiligo are more vulnerable to trauma (suction) than keratinocytes in the normally pigmented epidermis, resulting in their apoptosis. Br J Dermatol. 2004;151:995-1003.
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Is a member of the cysteine-aspartic acid protease (caspase) family; plays a central role in the execu- tion-phase of cell apoptosis |
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CASP73131 Shen C, Gao J, Sheng Y Dou J, Zhou F, Zheng X, et al. Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci. Front Genet. 2016;7:3.
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Is a member of the cysteine-aspartic acid protease (caspase) family; plays a central role in the execu- tion-phase of cell apoptosis |
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CASP82929 Lee AY Youm YH, Kim NH, Yang H, Choi WI. Keratinocytes in the depigmented epidermis of vitiligo are more vulnerable to trauma (suction) than keratinocytes in the normally pigmented epidermis, resulting in their apoptosis. Br J Dermatol. 2004;151:995-1003.
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Is a member of the cysteine-aspartic acid protease (caspase) family; plays a central role in the execu- tion-phase of cell apoptosis. |
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CASP103232 Wybranska I, Polus A, Mikolajczyk M, Knapp A, Sliwa A, Zapala B, et al. Apoptosis-related gene expression in glioblastoma (LN-18) and medulloblastoma (Daoy) cell lines. Hum Cell. 2013;26:137-48.
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Is a member of the cysteine-aspartic acid protease (caspase) family; plays a central role in the execu- tion-phase of cell apoptosis |
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CFLAR2828 Kumar-Sinha C, Varambally S, Sreekumar A, Chinnaiyan AM. Molecular cross-talk between the TRAIL and interferon signaling pathways. J Biol Chem. 2002;277:575-85.
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CASP8 and FADD-like apoptosis regulator, is a regulator of apoptosis and is structurally similar to caspase-8 |
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FASLG3535 Li M, Sun D, Li C, Zhang Z, Gao L, Li K, et al. Functional polymorphisms of the FAS gene associated with risk of vitiligo in Chinese populations: a case-control analysis. J Invest Dermatol. 2008;128:2820-4.
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Fas ligand (TNF superfamily, member 6); induction of apoptosis triggered by binding to FAS |
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TNF3737 Moretti S, Fabbri P Baroni G, Berti S, Bani D, Berti E, et al. Keratinocyte dysfunction in vitiligo epidermis: cytokine microenvironment and correlation to keratinocyte apoptosis. Histol Histopathol. 2009;24:849-57.
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Tumor necrosis factor, involved in the regulation of a wide spectra of biological processes, including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation |
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TNFRSF1A3333 Alenzi FQ. The significance and occurrence of TNF receptor polymorphisms in the Saudi population. Saudi J Biol Sci. 2016;23:767-72.
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One of the major receptors for the tumor necrosis factor-alpha; activates NF-kappa B, mediates apoptosis, and functions as a regulator of inflammation |
Oxidative stress |
GGT13434 Karsli N, Akcali C, Ozgoztasi O, Kirtak N, Inaloz S. Role of oxidative stress in the pathogenesis of vitiligo with special emphasis on the antioxidant action of narrowband ultraviolet B phototherapy. J Int Med Res. 2014;42:799-805.
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Involved in the maintenance of intracellular GSH levels. It is part of the cellular antioxidant defense mechanism |
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CCBL24242 Yu P Li Z, Zhang L, Tagle DA, Cai T Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family. Gene. 2006;365:111-8.
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Cysteine conjugate-beta lyase 2, involved in the regulation of oxidative stress |
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GPD13838 Mracek T, Drahota Z, Houstek J. The function and the role of the mitochondrial glycerol-3-phosphate dehydrogenase in mammalian tissues. Biochim Biophys Acta. 2013;1827:401-10.
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Glycerol-3-phosphate dehydrogenase 1, involved in the redox metabolism |
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TXN3939 Schallreuter KU, Behrens-Williams S, Khaliq TP, Picksley SM, Peters EM, Marles LK, et al. Increased epidermal functioning wild-type p53 expression in vitiligo. ExpDermatol. 2003;12:268-77.
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Thioredoxin, inhibits oxidative stress and caspase 3 activity |
Cell survival |
CAPN31010 Stromberg S, Bjorklund MG, Asplund A, Rimini R, Lundeberg J, Nilsson P et al. Transcriptional profiling of melanocytes from patients with vitiligo vulgaris. Pigment Cell Melanoma Res. 2008;21:162-71.
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A major intracellular protease involved in melanocyte survival |
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MITF99 Kingo K, Aunin E, Karelson M, Ratsep R, Silm H, Vasar E, et al. Expressional changes in the intracellular melanogenesis pathways and their possible role in the pathogenesis of vitiligo. J Dermatol Sci. 2008;52:39-46.,3030 Regazzetti C, Joly F, Marty C, Rivier M, Mehul B, Reiniche P, et al. Transcriptional Analysis of Vitiligo Skin Reveals the Alteration of WNT Pathway: A Promising Target for Repigmenting Vitiligo Patients. J Invest Dermatol. 2015;135:3105-14.
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Involved in melanocyte survival, controls the expression of genes that relate melanin synthesis |
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CDC5L3636 Martin JW. Chilton-MacNeill S, Koti M, van Wijnen AJ, Squire JA, Zielenska M. Digital expression profiling identities RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma. PLoS One. 2014;9:e95843.
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Involved in cell cycle control |
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MAPK14040 Verkaar F, van der Doelen AA, Smits JF, Blankesteijn WM, Zaman GJ. Inhibition of Wnt/beta-catenin signaling by p38 MAP kinase inhibitors is explained by crossreactivity with casein kinase Idelta/varepsilon. Chem Biol. 2011;18:485-94.
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Mitogen-activated protein kinase 1, involved in cell proliferation and differentiation |
Signal |
CSNK1G34040 Verkaar F, van der Doelen AA, Smits JF, Blankesteijn WM, Zaman GJ. Inhibition of Wnt/beta-catenin signaling by p38 MAP kinase inhibitors is explained by crossreactivity with casein kinase Idelta/varepsilon. Chem Biol. 2011;18:485-94.
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Participates in the Wnt signaling pathway |
transduction |
NFKB12626 Chang TP, Vancurova I. Bcl3 regulates pro-survival and pro-inflammatory gene expression in cutaneous T-cell lymphoma. Biochim Biophys Acta. 2014;1843:2620-30.
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Nuclear Factor Kappa B Subunit 1, is a transcription regulator that stimulates the expression of genes involved in a wide variety of biological functions |
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WNT7A4141 Yamada T Hasegawa S, Inoue Y Date Y Yamamoto N, Mizutani H, et al. Wnt/beta-catenin and kit signaling sequentially regulate melanocyte stem cell differentiation in UVB-induced epidermal pigmentation. J Invest Dermatol. 2013;133:2753-62.
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Wnt Family Member 7A, implicated in oncogenesis and several developmental processes |
Endogenous control / constitutive expression |
TPT1 |
Tumor protein, translationally controlled 1, involved in calcium binding and microtubule stabilization. Endogenous control / constitutive expression |
GAPDH |
Glyceraldehyde-3-phosphate dehydrogenase. Endogenous control / constitutive expression |