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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 (Montrer PAX3 Protéines) together with known variants in the EDNRB (Montrer EDNRB Protéines) 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 (Montrer CDK2 Protéines) expression to drive cell resistance to both BRAF (Montrer BRAF Protéines) and Hsp90 (Montrer HSP90 Protéines) inhibitors.
Data show that glycogen synthase kinase 3 (GSK3) and proto-oncogene (Montrer RAB1A Protéines) proteins B-raf (BRAF (Montrer BRAF Protéines))/MAPK (Montrer MAPK1 Protéines) 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 (Montrer WNT2 Protéines)/beta-catenin (Montrer CTNNB1 Protéines) 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 (Montrer MYO5A Protéines) gene, which encodes the molecular motor (Montrer MYO1E Protéines) myosin-Va (Montrer MYO5A Protéines).
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 (Montrer SH3BP4 Protéines) is transcriptionally regulated by MITF as its direct target.
Study demonstrates that an oncogenic tyrosine kinase (Montrer TXK Protéines) 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
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 (Montrer CREB1 Protéines)- and ERK1/2-mediated downregulation of MITF.
Data show that OCT4 (Montrer POU5F1 Protéines) 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 (Montrer CREB1 Protéines)-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 (Montrer EPHB2 Protéines)/Mitf signalling. In addition, the results suggest that baicalin can potentially be used as a natural product for the treatment of bone fracture
miR (Montrer MLXIP Protéines)-340 suppresses osteoclast differentiation by inhibiting MITF.
The association of mitochondrial microphthalmia-associated transcription factor (MITF) with pyruvate dehydrogenase (PDH (Montrer PDP Protéines)) emerges as an important regulator of mast cell function. Our findings indicate that PDH (Montrer PDP Protéines) could arise as a new target for the manipulation of allergic diseases.
Data show that TFAP2A (Montrer TFAP2A Protéines) 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
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.
Mutations in MITF gene is associated with Waardenburg syndrome type 2A .
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