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...

Insufficient cell number is a primary cause of failed retinal development in the Chx10 mutant mouse. To determine if Chx10 regulates cell number by antagonizing p27(Kip1) activity, we generated Chx10, p27(Kip1) double null mice. The severe hypocellular defect in Chx10 single null mice is alleviated in the double null, and while Chx10-null retinas lack lamination, double null retinas have near n...

PURPOSE Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and dental abnormalities. The syndrome is caused by mutations in the NHS gene, whose function is not known. The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phen...

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge,...

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...

Skin color is one of the most distinct features in the human race. To assess the mechanisms of skin color variation, human skin substitutes (HSS) were constructed by grafting mixtures of cultured keratinocytes and melanocytes from a combination of donor skin types, together with light skin derived fibroblasts, into chambers inserted onto the back skin of severe combined immunodeficient (SCID) m...

The transcription factor microphthalmia (MITF) is required for the formation of normal melanocytes during embryonic development and for the expression of pigment cell-specific markers, which are the downstream transcriptional targets of MITF. It also seems to be crucial for the survival of malignant melanocytes. The special interest of this review is the possible utility of MITF as a marker of ...

OBJECTIVE To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters. DESIGN Comparison of pattern of residence at birth of cases of anophthalmia and microphthalmia in England in 1988-94, notified to a special register, with pattern of residence of all births. Three groups studied included all cas...

IN our first paper (Fran9ois, Verriest, and De Rouck, 1955) we reported upon the modifications of the normal human electro-oculogram (EOG) by light adaptation (2,000 asb for 5 min.) and subsequent dark adaptation; if the former generally gives only a slight decrease in the initial value, the latter is constantly characterized by an initial increase in the recorded deflections (for 1 to 3 min.),...