The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination con...

Micropthalmia-associated transcription factor (MITF) is the master regulator of melanocyte development, survival, and function. Frequent alteration in the expression of MITF is detected in melanoma, but the mechanism(s) underlying the alteration in expression have not been completely determined. In these studies, we have identified microRNA-137 (miR-137) as a regulator of MITF expression. The g...

Malignant melanoma is a neoplasm of melanocytes, and the microphthalmia-associated transcription factor (MITF) is essential for the existence of melanocytes. MITF's relevance for this cell lineage is maintained in melanoma, where it is an important regulator of survival and balances melanoma cell proliferation with terminal differentiation (pigmentation). The MITF gene is amplified in ~20% of m...

Tr an sc ri p tio n fa ct o r ATF2 T69P, T71P Endogenous + yes CoIP Activation of transcription C/EBPβ n/d Overexpressed + n/d Activation of transcription CHOP-GADD153-DDIT3 S79P, S82P Endogenous + yes Activation of transcription ERa-ESR1 T311A Endogenous +/yes Activation of transcription Fos–c-fos T325P Overexpressed + yes Activation of transcription FOXO3a S7P Overexpressed + n/d CoIP Nuclear...

At the end of the last decade, sporadic melanomas were still considered a genetic black box. Fortunately, in the last few years the box has been opened bringing to light melanoma-relevant oncogenes, aberrant signal transduction pathways, critical alterations in the melanoma cell cycle that go beyond p16INK4a, and melanoma- microenvironment interactions that are essential for tumor progression. ...

The microphthalmia-associated transcription factor (MITF) is the "master melanocyte transcription factor" with a complex role in melanoma. MITF protein levels vary between and within clinical specimens, and amplifications and gain- and loss-of-function mutations have been identified in melanoma. How MITF functions in melanoma development and the effects of targeting MITF in vivo are unknown bec...

AIM To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. METHODS Mutation analysis of the PTCH gene. RESULTS A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. CONCLUSIONS This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developme...