Results 151 to 160 of about 9,717,047 (191)

Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmia. [PDF]

J Med Genet
Seese SE, Reis LM, Schneider A, Bardakjian T, Semina EV.   +4 more
europepmc   +1 more source

A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review. [PDF]

Medicine (Baltimore)
Li Z, Ke S, Wan W, Sun J, Hu K, Li C.
europepmc   +1 more source

Concurrent mutations in <i>DNAH5</i> and <i>FOXE3</i> genes: a unique occurrence in infancy. [PDF]

Anat Cell Biol
Krishnamurthy A, Verma A, Biswas S, Joy P.   +3 more
europepmc   +1 more source

Studies on retina-specific gene expression [PDF]

Reinisalo, Mika
core  

Microphthalmia/Transcription Factor E (MiT/TFE) Pathways in Pulmonary Diseases: Current Evidence and Emerging Mechanisms. [PDF]

Cells
Singh P, Abor EK, Shi W.
europepmc   +1 more source

Microphthalmia Associated Transcription Factor Is a Target of the Phosphatidylinositol-3-Kinase Pathway [PDF]

Journal of Investigative Dermatology, 2003
In B16 melanoma cells, cyclic adenosine monophosphate inhibits the phosphatidylinositol-3-kinase and the phosphatidylinositol-3-kinase inhibitor, LY294002, stimulates melanogenesis. However, the molecular mechanisms, by which phosphatidylinositol-3-kinase inhibition increases melanogenesis remained to be identified. In this study, we show that LY294002
Corine Bertolotto, Robert Ballotti, Mehdi Khaled   +2 more
exaly   +6 more sources

The Transcription Factor Onecut-2 Controls the Microphthalmia-Associated Transcription Factor Gene

Biochemical and Biophysical Research Communications, 2001
Microphthalmia-associated transcription factor (MITF) is essential for melanocyte differentiation. MITF mutations are associated with some cases of Waardenburg syndrome (WS) type 2. WS is a dominantly inherited disease characterized by auditory-pigmentary defects that result from the absence of melanocytes. The lack of mutation in MITF coding sequences
Frédéric Lemaigre, Patrick Jacquemin, James O'Sullivan   +2 more
exaly   +4 more sources

Modulation of Microphthalmia-associated Transcription Factor Gene Expression Alters Skin Pigmentation [PDF]

Journal of Investigative Dermatology, 2002
The microphthalmia-associated transcription factor is implicated in melanocyte development and in the regulation of melanogenesis. Microphthalmia-associated transcription factor is thought to bind to the M-box promoter elements of tyrosinase, tyrosinase-related protein-1 and dopachrome tautomerase/tyrosinase-related protein-2 and transactivate these ...
David Fisher, M Seiberg, G J Gendimenico   +2 more
exaly   +5 more sources

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Structural basis of CBP/p300 recruitment by the microphthalmia-associated transcription factor

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2022
ABSTRACT The microphthalmia-associated transcription factor (MITF) is a master regulator of the melanocyte cell lineage. Aberrant MITF activity can lead to multiple malignancies including skin cancer, where it modulates the proliferation and invasiveness of melanoma. MITF-dependent gene expression requires recruitment
Alexandra D. Brown, Kathleen L. Vergunst, Makenzie Branch, Connor M. Blair, Denis J. Dupré, George S. Baillie, David N. Langelaan   +6 more
openaire   +2 more sources

CBP/p300 as a co-factor for the Microphthalmia transcription factor

Oncogene, 1997
The Microphthalmia basic-Helix-Loop-Helix-Leucine Zipper (bHLH-LZ) transcription factor (Mi) plays a crucial role in the genesis of melanocytes; mice deficient for a functional (Microphthalmia) gene product lack all pigment cells.
Colin Goding, Tony Kouzarides, Roberts K   +2 more
exaly   +2 more sources