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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
it is highly plausible that the MITF244Glu allele causes the white coat color phenotype in a dominant mode of inheritance
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 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes.
Results show that MITF is highly expressed in myeloma cells and regulates cdk2 expression to drive cell resistance to both BRAF and Hsp90 inhibitors.
Data show that glycogen synthase kinase 3 (GSK3) and proto-oncogene proteins B-raf (BRAF)/MAPK signaling converges to control microphthalmia-associated transcription factor MITF (MITF) nuclear export.
Our results provide a new molecular insights into how MITF mutations can lead to different phenotypes of WS2 through Wnt/beta-catenin signaling pathway.
The present study reports a novel mutation, c.718C>G; p. (Arg240Gly) in the melanogenesis associated transcription factor gene, in Han people with hearing loss.
Studied microphthalmia-associated transcription factor (Mitf) upregulation and melanogenesis enhanced by Cymbopogon schoenanthus phenol extracts.
the essential melanocyte-specific transcription factor MITF regulates expression of the MYO5A gene, which encodes the molecular motor myosin-Va.
The above observations support the idea that primary and metastatic melanomas comprise not only MITF-high and MITF-low cells, but also subpopulations expressing markers of both signatures. Combinations of the three cell populations may be adjacent or intermixed contributing to the spatial heterogeneity of the tumors.
The SH3BP4 is transcriptionally regulated by MITF as its direct target.
Study demonstrates that an oncogenic tyrosine kinase mutant, KIT(D816V), can alter the transcriptional program of the transcription factor MITF in melanoma.
demonstrate that the FANC pathway acts downstream MiTF and establish the existence of an epistatic relationship between MiTF and the FANC pathway
MITF expression levels may be determined in hepatic cancer cells by the balance between the Hedgehog signaling and the cellular stress.
Data strongly suggest that glucose deprivation suppresses MITF expression through reactive oxygen species-induced ATF4 up-regulation, which in turn results in reduced melanoma cell proliferation.
Authors showed that overexpression of MITF-A leads to a substantial increase of nephron number and bigger kidneys, whereas Mitfa deficiency results in reduced nephron number.
MITF may play a role in the development of acquired drug resistance through hyper-activation of the PI3K pathway.
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 affects its downstream targets and causes TP53-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)-mediated senescence rescue was accompanied by transcriptional activation of the melanocyte-lineage survival oncogene MITF, indicating a role for PARP1 in melanomagenesis.
Study results directly demonstrate that MITF-M not only influences melanogenesis, but also determines the progression of melanosomal protein in mouse melanocytes.
Through the cAMP/CREB- and ERK1/2-mediated downregulation of MITF.
Data show that OCT4 protein impedes mouse embryonic stem cells (mESCs) differentiation despite MITF transcription factor (MITF) expression.
Antioxidative and Anti-Melanogenic Activities of Bamboo Stems (Phyllostachys nigra variety henosis) via PKA/CREB-Mediated MITF Downregulation in B16F10 Melanoma Cells
This indicated that RANK might be the binding target of baicalin. In sum, our findings revealed baicalin increased osteoclast maturation and function via p-ERK/Mitf signalling. In addition, the results suggest that baicalin can potentially be used as a natural product for the treatment of bone fracture
miR-340 suppresses osteoclast differentiation by inhibiting MITF.
The association of mitochondrial microphthalmia-associated transcription factor (MITF) with pyruvate dehydrogenase (PDH) emerges as an important regulator of mast cell function. Our findings indicate that PDH could arise as a new target for the manipulation of allergic diseases.
Data show that TFAP2A 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
These findings demonstrate that LC3 contributes to melanogenesis by increasing ERK-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.
MITF interacts with BRG1 to promote GATA4 expression in cardiac hypertrophy.
Overexpression of FHL2 alone had no effect on Erbin expression, but in the presence of MITF, Erbin expression was decreased.
A reciprocal antagonism between the MITF and c-Jun interconnects inflammation-induced dedifferentiation with pro-inflammatory cytokine responsiveness of melanoma cells favouring myeloid cell recruitment.
BPTF likely acts as a cofactor for other transcription factors in MITF-negative melanoma cells and there are clearly genes regulated by BPTF, but not MITF, in MITF-expressing lines.
the crucial role of signaling dependent MITF/p38 MAPK interactions in osteoclast differentiation
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