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the missense mutation p.Arg682His, the g.77784972T>C variant at KIT and the g.20147039C>T variant at MITF are the main influence on the extent of white facial markings
Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.
several independent mutations in MITF and PAX3 (show PAX3 Proteins) together with known variants in the EDNRB (show EDNRB Proteins) and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes.
Mutations in MITF gene is associated with Waardenburg syndrome type 2A .
A sumoylation-defective germline mutation in microphthalmia-associated transcription factor (MITF), a master regulator of melanocyte homeostasis, is associated with the development of melanoma. [review]
Single Nucleotide Polymorphism in MITF gene is associated with facial solar lentigines.
Phosphorylation of MITF by AKT (show AKT1 Proteins) affects its downstream targets and causes TP53 (show TP53 Proteins)-dependent cell senescence
we identified two novel MITF mutations in patients with TS/WS2A. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease.
Data show that poly(ADP-ribose) polymerase 1 (PARP1 (show PARP1 Proteins))-mediated senescence rescue was accompanied by transcriptional activation of the melanocyte-lineage survival oncogene (show RAB1A Proteins) MITF, indicating a role for PARP1 (show PARP1 Proteins) in melanomagenesis.
MITF is a direct target of miR (show MLXIP Proteins)-137.
Study found in melanoma cell lines that ILEI (show FAM3C Proteins) is highly expressed in MITF-low invasive cells, and that phenotype switching between the MITF-low invasive state and the MITF-high proliferative state can alter ILEI (show FAM3C Proteins) expression.
Suppression of MITF activity by UCHL1 (show UCHL1 Proteins) via protein degradation might aid in the development of new therapeutic approaches for melanoma or dyspigmentation disorders.
The results of the present study have provided new and surprising insights into the effect of Bcl-2 (show BCL2 Proteins) overexpression in melanoma cells, namely that Bcl-2 (show BCL2 Proteins) modulates MITF nuclear activity.
miR (show MLXIP Proteins)-340 suppresses osteoclast differentiation by inhibiting MITF.
The association of mitochondrial microphthalmia-associated transcription factor (MITF) with pyruvate dehydrogenase (PDH (show PDP Proteins)) emerges as an important regulator of mast cell function. Our findings indicate that PDH (show PDP Proteins) could arise as a new target for the manipulation of allergic diseases.
Data show that TFAP2A (show TFAP2A Proteins) binds many of the same regulatory elements as MITF in melanocytes.
The suppressive activities of 7,8-DHF on melanoma progression were associated with the downregulation of microphthalmia-associated transcription factor (MITF).
protein expression level of MITF and p-CREB signaling pathway are significantly increased. Moreover, 60Hz ELF-EMFs reduce the phosphorylate of ERK in B16F10 melanoma cel
Microphthalmia-associated transcription factor regulates skin melanoblast migration by repressing the melanoma cell adhesion molecule (show MCAM Proteins)
These findings demonstrate that LC3 (show MAP1LC3A Proteins) contributes to melanogenesis by increasing ERK (show EPHB2 Proteins)-dependent MITF expression, thereby providing a mechanistic insight into the signaling network that links autophagy to melanogenesis.
the retinal degeneration associated with the disruption of the visual cycle in Mitf-deficient mice can be partially corrected both structurally and functionally by an exogenous supply of 9-cis-retina
Results show that Mitf, probably including Mitf-M, is expressed in the mitral cells and tufted cells that transmit the information derived from olfactory sensory neurons to the olfactory cortex.
Therefore, it is reasonable to assume that the increase in the expression of Mitf in melanocytes is involved in the age-ssociated increase in the pigmentation in the eyes of black-eyed mice.
Variability in the MITF gene clearly explained the differences between spotted and non-spotted cattle phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in two of the studied cattle breeds.
The objectives of this study were to characterize the phenotypes of German White Fleckvieh and to identify the mutation responsible for this newly detected phenotype in cattle using genome-wide association analyses and re-sequencing of MITF.
Elimination of the MITF-M isoform alone is sufficient to cause deafness and depigmentation.
Although MITF does not seem to be the causal gene of the QTL initially observed, it can not be excluded that a prominent role of its transcription and function in the outbreak and evolution of the tumors observed in pigs.
This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.
microphthalmia transcription factor
, microphthalmia-associated transcription factor
, micophthalmia-associated transcription factor b
, class E basic helix-loop-helix protein 32
, black eyed white
, transcription factor
, microphtalmia-associated transcription factor