Microphthalmia-associated transcription factor
Definition:
References:
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[1]. Giannicola Genovese, et al. The tumor suppressor HINT1 regulates MITF and β-catenin transcriptional activity in melanoma cells. Cell Cycle. 2012 Jun 1;11(11):2206-15. [Content Brief]
[2]. K Takeda, et al. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet. 2000 Jan 1;9(1):125-32. [Content Brief]
[3]. Aman George, et al. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. [Content Brief]
[4]. S Amae, et al. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun. 1998 Jun 29;247(3):710-5. [Content Brief]