TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 Biomarker disease BEFREE In addition, quantitative real-time PCR (qPCR) and Western blot experiments were performed to determine the expression of essential melanogenesis-related proteins including tyrosinase (TYR), tyrosinase-related protein (TRP) 1 and 2 and microphthalmia transcription factor (MITF). 31785464 2020
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE Although phenylethyl resorcinol decreased mRNA levels of tyrosinase and tyrosinase-related protein (TRP)-2, it did not affect mRNA levels of melanogenic gene microphthalmia-associated transcriptional factor (MITF) or TRP-1. 30849679 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 Biomarker disease BEFREE STTM‑miR‑143‑5p overexpression resulted in an increased expression of downstream melanogenesis genes including microphthalmia‑associated transcription factor (MITF), tyrosinase family members [tyrosinase (TYR) and tyrosinase‑related protein 1 (TYRP1)], melanophilin (MLPH), and Rab27a, thereby contributing to melanocyte pigmentation by promoting total alkali‑soluble melanogenesis (ASM) and eumelanin (EM) contents; conversely, STTM‑miR‑143‑5p overexpression resulted in decreased expression of the tyrosinase‑related protein 2 (TYRP2)/dopachrome tautomerase (DCT), which is responsible for decreased pheomelanin (PM) content in mouse melanocytes. 31322203 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE In addition, resorcinol suppressed the expression of melanogenic gene microphthalmia-associated transcriptional factor (MITF) and its downstream target genes tyrosinase, tyrosinase-related protein (TRP)-1, and TRP-2. 29621941 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE Ferulic acid inhibited melanin synthesis, tyrosinase expression, and microphthalmia transcription factor expression in B16F10 cells stimulated with α-melanocyte stimulating hormone. 28884442 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE The effects of diethylstilbestrol on cell viability, melanin content, tyrosinase activity, cAMP level, expression of the tyrosinase family and microphthalmia related transcription factor (MITF) were measured in B16 melanoma. 21745488 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 Biomarker disease BEFREE Included in these measurements were tyrosinase and microphthalmia transcription factor (MITF) protein levels, cyclic AMP levels, protein kinase A (PKA) activation, and reduced glutathione (GSH) and oxidized glutathione (GSSG) levels. 16394501 2006
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE The transcription activation domain of microphthalmia transcription factor, tested as a GAL-MITF fusion protein, remained fully functional in these cells, however, and ectopic microphthalmia transcription factor localized normally to the nucleus and bound to the tyrosinase initiator E-box in gel retardation assays. 11886515 2001
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE The authors tested 15 AMLs with T311 and D5 by immunohistochemistry and a subset of 3 cases by reverse transcription-polymerase chain reaction for their expression of tyrosinase and Mitf mRNA. 11277411 2001
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE Recently, we have shown that Microphthalmia mediates the melanogenic effects elicited by alphaMSH that up-regulates the expression of tyrosinase through the activation of the cAMP pathway. 10707962 2000
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE These findings disclose the mechanism by which cAMP stimulates tyrosinase expression and melanogenesis and emphasize the critical role of microphthalmia as signal transducer in cAMP-induced melanogenesis and pigment cell differentiation. 9700169 1998
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE The tyrosinase promoter is a principle target of the melanocyte transcription factor Microphthalmia (Mi), a factor for which deficiency in humans causes Waardenburg syndrome II. 9830058 1998
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 AlteredExpression disease BEFREE Repression correlated with Brn-2/N-Oct3 binding in a mutually exclusive fashion with basic-helix-loop-helix-leucine-zipper (bHLH-LZ) transcription factor USF in vitro and with Brn-2 expression preventing activation of the tyrosinase promoter by the bHLH-LZ factor Microphthalmia in vivo. 7478537 1995