Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A critical transcription factor for RPE development and function is the microphthalmia-associated transcription factor MITF and its germline mutations are associated with clinically distinct disorders, including albinism, microphthalmia, retinal degeneration, and increased risk of developing melanoma.
|
31242455 |
2019 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans.
|
27889061 |
2016 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
|
27604145 |
2016 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
MITF, a melanoma oncogene member of the microphthalmia family of transcription factors (MiT), was recently found to contain novel GSK3 phosphorylation sites and to be stabilized by Wnt.
|
26003288 |
2015 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene.
|
23774529 |
2014 |
Microphthalmos
|
0.200 |
AlteredExpression
|
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 |
Microphthalmos
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The microphthalmia transcription factor MITF plays a pivotal role in the development and differentiation of melanocytes.
|
11929831 |
2002 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Downregulation of melanocyte differentiation markers mRNAs was preceded by a decrease in microphthalmia transcription factor (Mitf) gene expression, which was quantitatively similar to the decrease achieved using 12-O-tetradecanoylphorbol-13-acetate.
|
11493672 |
2001 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
MITF plays a critical role in the development of both neural-crest-derived melanocytes and optic cup-derived retinal pigmented epithelium (RPE); the loss of a functional Mitf in mice results in complete absence of all pigment cells, which in turn induces microphthalmia and inner ear deafness.
|
10400990 |
1999 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The molecular pathology of MITF/microphthalmia mutations appears to be different in humans and mice, with gene dosage having more significant effects in humans than in the mouse.
|
8589691 |
1995 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene.
|
7874167 |
1994 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|