… Albinism, a genetic disease causing pigmentation defects … Here we show that a common
transcriptional control regulates … in the X-linked form of ocular albinism, as Oa1's function affects …

… Binding of Microphthalmia transcription factor (Mitf) to the Oa1 promoter was confirmed by
Electrophoretic mobility shift assay (EMSA). Finally, in vivo control of Oa1 transcription by Mitf …

… Several transcription factors have an important role in determining the eye phenotype. The
most studied of these transcription factors, are the homeodomain transcription factors Crx 15 …

… Microphthalmia-associated transcription factor (MITF) … pigment cell-specific transcription of
the melanogenesis enzyme … is upregulated by other transcription factors, PAX3, SOX10, and …

… This is the case of ocular albinism type 1 GPR143 (formerly OA1) gene. OA1 encodes a G-protein-coupled
receptor located on the melanosomal membrane that controls melanosome …

… To investigate whether ocular albinism type 1 (OA1) is differentially expressed in the skin
of … increased the expression levels of microphthalmia-associated transcription factor (MITF), …

… the transcriptional activation of hTYR by recruiting the microphthalmia associated transcription
factor … genes, the indispensable transcription factor is MITF (human homolog of the mouse …

… the “microphthalmia-associated transcription factor” because … never been associated with
microphthalmia in humans. Here… , osteopetrosis, microphthalmia, macrocephaly, albinism, and …

… Here we show that the microphthalmia-associated transcription factor, MITF, which plays
a central role in the development and function of RPE cells, regulates the expression of two …

… OTX2 and SOX2 coregulation of RAX, along with SIX3-mediated repression of WNT allows
upregulation of eye field transcription factors (EFTFs), including PAX6, RAX, LHX2, TBX3 and …