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https://www.readbyqxmd.com/read/27926791/high-prevalence-of-mitf-staining-in-undifferentiated-pleomorphic-sarcoma-caution-in-use-of-melanocytic-markers-in-sarcoma
#1
Bonnie Choy, Elizabeth Hyjek, Anthony G Montag, Peter Pytel, Rex Haydon, Hue H Luu, Chao Jie Zhen, Bradley C Long, Sabah Kadri, Jeremy P Segal, Larissa V Furtado, Nicole A Cipriani
AIMS: Diagnosis of undifferentiated pleomorphic sarcoma (UPS) may be challenging, as other lesions with undifferentiated spindle cell morphology must be excluded, including melanoma. Microphthalmia-associated transcription factor (MiTF) stains nevi and epithelioid melanomas, as well as some mesenchymal neoplasms. We evaluated the prevalence of MiTF and melanocytic markers in UPS and a subset of atypical fibroxanthoma (AFX). METHODS AND RESULTS: MiTF, SOX10, Melan-A, HMB45, and S100 immunostains were performed on resection specimens from 19 UPS and 5 AFX...
December 7, 2016: Histopathology
https://www.readbyqxmd.com/read/27919990/validation-and-enhancement-of-the-clinicopathological-melanoma-nomogram-via-incorporation-of-a-molecular-marker-in-the-primary-tumor
#2
Samer A Naffouje, Rand Naffouje, Jinsong Chen, George I Salti
BACKGROUND/AIM: To validate the melanoma nomogram and improve its function in prediction of nodal dissemination by incorporating a molecular marker in the model. Microphthalmia transcription factor (MITF) is an important regulator of melanocyte homeostasis and differentiation. We have shown that the grade of MITF expression in primary melanoma cells can serve as a predictor of nodal status. Many efforts to identify the nodal spread in cutaneous melanoma using non-invasive means have been recently undertaken...
December 2016: Anticancer Research
https://www.readbyqxmd.com/read/27919619/microsatellite-polymorphism-located-immediately-upstream-of-the-phosphatidylinositol-glycan-class-k-gene-pigk-affects-its-expression-which-correlates-with-tyrosinase-activity-in-human-melanocytes
#3
Ken Okamura, Masahiro Hayashi, Yuko Abe, Yuta Araki, Yutaka Hozumi, Tamio Suzuki
BACKGROUND: Glycosylphosphatidylinositol (GPI) acts as a membrane anchor and a post-translational modifier for more than 150 proteins (called GPI-anchored proteins: GPI-APs). However, little study has been done to explore the role of GPI-APs in melanocytes. METHODS: The relationship between the mRNA expression of the genes which play essential roles in GPI anchoring system [phosphatidylinositol glycan, class A, and class K gene (PIGA, PIGK)] and melanogenesis-related genes (MITF, TYRP1, TYRP2, and TYR) as well as DOPA oxidase activities were evaluated in 13 different normal human epidermal melanocytes (NHEMs)...
November 27, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27918305/tuberous-sclerosis-complex-inactivation-disrupts-melanogenesis-via-mtorc1-activation
#4
Juxiang Cao, Magdalena E Tyburczy, Joel Moss, Thomas N Darling, Hans R Widlund, David J Kwiatkowski
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the TSC protein complex is an essential regulator of mTOR complex 1 (mTORC1). Patients with TSC develop hypomelanotic macules (white spots), but the molecular mechanisms underlying their formation are not fully characterized. Using human primary melanocytes and a highly pigmented melanoma cell line, we demonstrate that reduced expression of either TSC1 or TSC2 causes reduced pigmentation through mTORC1 activation, which results in hyperactivation of glycogen synthase kinase 3β (GSK3β), followed by phosphorylation of and loss of β-catenin from the nucleus, thereby reducing expression of microphthalmia-associated transcription factor (MITF), and subsequent reductions in tyrosinase and other genes required for melanogenesis...
December 5, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27902928/effects-of-aqueous-extracts-of-ecliptae-herba-polygoni-multiflori-radix-praeparata-and-rehmanniae-radix-praeparata-on-melanogenesis-and-the-migration-of-human-melanocytes
#5
Ping Xu, Shulan Su, Cheng Tan, Ren-Sheng Lai, Zhong-Sheng Min
ETHNOPHARMACOLOGICAL RELEVANCE: Polygoni multiflori radix praeparata (PMRP), Ecliptae herba (EH) and Rehmanniae radix praeparata (RRP) are the most frequently-used herbs by Traditional Chinese Medicine practitioners for the treatment of vitiligo. Their abilities to stimulate melanogenesis, melanocyte migration and MITF (microphthalmia associated transcription factor) protein expression were evaluated in this study. MATERIALS AND METHODS: The effects of aqueous extracts of PMRP, EH and RRP on human melanocytes in vitro were examined by MTT assay, tyrosinase activity, melanin synthesis, migration assay and Western blot...
November 28, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#6
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27889061/biallelic-mutations-in-mitf-cause-coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-and-deafness
#7
Aman George, Dina J Zand, Robert B Hufnagel, Ruchi Sharma, Yuri V Sergeev, Janet M Legare, Gregory M Rice, Jessica A Scott Schwoerer, Mariana Rius, Laura Tetri, David M Gamm, Kapil Bharti, Brian P Brooks
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. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27883876/comprehensive-genomic-profiling-of-central-giant-cell-lesions-identifies-clinically-relevant-genomic-alterations
#8
Brett Bezak, Heidi Lehrke, Julia Elvin, Laurie Gay, David Schembri-Wismayer, Christopher Viozzi
PURPOSE: Comprehensive genomic profiling (CGP) can simultaneously detect clinically relevant genomic alterations (CRGAs) in hundreds of cancer-related genes and direct treatment toward patient-specific therapy options for many tumors. This pilot study aimed to use CGP to describe CRGAs present in central giant cell lesions (CGCLs) to characterize any possible underlying genomic drivers of CGCLs. MATERIALS AND METHODS: With institutional review board approval, electronic medical records were searched for patients with histologically confirmed CGCLs who underwent biopsy at Mayo Clinic from 2000 through 2014...
November 1, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27882071/pigmentation-effect-of-rice-bran-extracted-minerals-comprising-soluble-silicic-acids
#9
Hyun-Jun Jang, Young-Kwon Seo
Our investigation focused on identifying melanogenesis effect of soluble minerals in rice bran ash extract (RBE) which include orthosilicic acid (OSA). Melanocytes were apparently normal in terms of morphology. It was, however, shown that they were stressed a little in the RBE and OSA added media in aspect of LDH activity. Melanin synthesis and intracellular tyrosinase activity were increased by treatment of RBE which is similar to that of OSA. The Western blotting results showed that TRP-1, tyrosinase, and MITF expression levels were 2-3 times higher in the OSA and RBE groups compared to the control group which promoted melanin synthesis through CREB phosphorylation...
2016: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/27871875/pyruvate-dehydrogenase-has-a-major-role-in-mast-cell-function-and-its-activity-is-regulated-by-mitochondrial-mitf
#10
Israa Sharkia, Tal Hadad Erlich, Nadine Landolina, Miri Assayag, Alex Motzik, Inbal Rachmin, Gillian Kay, Ziv Porat, Sagi Tshori, Neville Berkman, Francesca Levi-Schaffer, Ehud Razin
BACKGROUND: We have recently observed that OXPHOS mediated ATP production is essential for mast cell function. Pyruvate dehydrogenase (PDH) is the main regulator of the Krebs cycle and is located upstream to the electron transport chain. However, the role of PDH in mast cell function has not been described. Microphthalmia transcription factor (MITF) regulates the development, number and function of mast cells. The localization of MITF to the mitochondria and its interaction with mitochondrial proteins has not been explored...
November 18, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27869170/androgen-receptor-promotes-melanoma-metastasis-via-altering-the-mirna-539-3p-usp13-mitf-axl-signals
#11
Y Wang, Z Ou, Y Sun, S Yeh, X Wang, J Long, C Chang
Early studies demonstrated that male melanoma patients have worse survival than female patients, yet the detailed mechanisms for this gender difference remain unclear. We analyzed around 100 cases of human melanoma and found that androgen receptor (AR) positive melanoma patients have worse survival outcomes compared with AR-negative melanoma patients. Here we report that AR can have positive roles to increase melanoma cell invasion in multiple cell lines in vitro and a mouse model in vivo. Mechanism dissection suggest that AR increases melanoma cell invasion via modulating the MITF-AXL signals via altering the miRNA-539-3p/USP13 signaling to increase MITF protein degradation through a reduction of de-ubiquitination...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27859996/microphthalmia-associated-transcription-factor-ensures-the-elongation-of-axons-and-dendrites-in-the-mouse-frontal-cortex
#12
Koji Ohba, Kazuhisa Takeda, Tamio Furuse, Tomohiro Suzuki, Shigeharu Wakana, Takashi Suzuki, Hiroaki Yamamoto, Shigeki Shibahara
Long interspersed element-1 (LINE-1) is a mammalian transposable element, and its genomic insertion could cause neurological disorders in humans. Incidentally, LINE-1 is present in intron 3 of the microphthalmia-associated transcription factor (Mitf) gene of the black-eyed white mouse (Mitf(mi-bw) allele). Mice homozygous for the Mitf(mi-bw) allele show the white coat color with black eye and deafness. Here, we explored the functional consequences of the LINE-1 insertion in the Mitf gene using homozygous Mitf(mi-bw) mice on the C3H background (C3H-bw mice) or on the C57BL/6 background (bw mice)...
November 11, 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/27857118/lineage-specific-roles-of-the-cytoplasmic-polyadenylation-factor-cpeb4-in-the-regulation-of-melanoma-drivers
#13
Eva Pérez-Guijarro, Panagiotis Karras, Metehan Cifdaloz, Raúl Martínez-Herranz, Estela Cañón, Osvaldo Graña, Celia Horcajada-Reales, Direna Alonso-Curbelo, Tonantzin G Calvo, Gonzalo Gómez-López, Nicolas Bellora, Erica Riveiro-Falkenbach, Pablo L Ortiz-Romero, José L Rodríguez-Peralto, Lorena Maestre, Giovanna Roncador, Juan C de Agustín Asensio, Colin R Goding, Eduardo Eyras, Diego Megías, Raúl Méndez, María S Soengas
Nuclear 3'-end-polyadenylation is essential for the transport, stability and translation of virtually all eukaryotic mRNAs. Poly(A) tail extension can also occur in the cytoplasm, but the transcripts involved are incompletely understood, particularly in cancer. Here we identify a lineage-specific requirement of the cytoplasmic polyadenylation binding protein 4 (CPEB4) in malignant melanoma. CPEB4 is upregulated early in melanoma progression, as defined by computational and histological analyses. Melanoma cells are distinct from other tumour cell types in their dependency on CPEB4, not only to prevent mitotic aberrations, but to progress through G1/S cell cycle checkpoints...
November 18, 2016: Nature Communications
https://www.readbyqxmd.com/read/27852774/a-drosophila-model-of-neuronopathic-gaucher-disease-demonstrates-lysosomal-autophagic-defects-and-altered-mtor-signalling-and-is-functionally-rescued-by-rapamycin
#14
Kerri J Kinghorn, Sebastian Grönke, Jorge Iván Castillo-Quan, Nathaniel S Woodling, Li Li, Ernestas Sirka, Matthew Gegg, Kevin Mills, John Hardy, Ivana Bjedov, Linda Partridge
Glucocerebrosidase (GBA1) mutations are associated with Gaucher disease (GD), an autosomal recessive disorder caused by functional deficiency of glucocerebrosidase (GBA), a lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose. Neuronopathic forms of GD can be associated with rapid neurological decline (Type II) or manifest as a chronic form (Type III) with a wide spectrum of neurological signs. Furthermore, there is now a well-established link between GBA1 mutations and Parkinson's disease (PD), with heterozygote mutations in GBA1 considered the commonest genetic defect in PD...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27851907/the-depigmenting-effect-of-natural-resorcinol-type-polyphenols-kuwanon-o-and-sanggenon-t-from-the-roots-of-morus-australis
#15
Shuting Hu, Zongping Zheng, Feng Chen, Mingfu Wang
ETHNOPHARMACOLOGICAL RELEVANCE: Morus australis, one of the major Morus species growing in East Asia, is rich in phenolic compounds. The extract of M. australis has been used as skin whitening components for a long period. The action mechanisms of its principal constituents are still unclear. This study aims to evaluate the skin lightening effects of phenolic compounds extracted from the root of M. australis in different melanocyte systems and artificial skin models. MATERIALS AND METHODS: The depigmenting effect of resorcinol type polyphenols (RTPs) from the root extract of M...
November 13, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/27829164/molecular-effects-of-1-naphthyl-methylcarbamate-and-solar-radiation-exposures-on-human-melanocytes
#16
Bianca Ferrucio, Manoela Tiago, Richard D Fannin, Liwen Liu, Kevin Gerrish, Silvya Stuchi Maria-Engler, Richard S Paules, Silvia Berlanga de Moraes Barros
Carbaryl (1-naphthyl-methylcarbamate), a broad-spectrum insecticide, has recently been associated with the development of cutaneous melanoma in an epidemiological cohort study with U.S. farm workers also exposed to ultraviolet radiation, the main etiologic factor for skin carcinogenesis. We hypothesized that carbaryl exposure may increase deleterious effects of UV solar radiation on skin melanocytes. This study aimed to characterize human melanocytes after individual or combined exposure to carbaryl (100μM) and solar radiation (375mJ/cm(2))...
November 6, 2016: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/27827938/anti-melanogenic-activities-of-heracleum-moellendorffii-via-erk1-2-mediated-mitf-downregulation
#17
Md Badrul Alam, Bum-Ju Seo, Peijun Zhao, Sang-Han Lee
In this study, the anti-melanogenic effects of Heracleum moellendorffii Hance extract (HmHe) and the mechanisms through which it inhibits melanogenesis in melan-a cells were investigated. Mushroom tyrosinase (TYR) activity and melanin content as well as cellular tyrosinase activity were measured in the cells. mRNA and protein expression of microphthalmia-associated transcription factor (MITF), tyrosinase (TYR), TYR-related protein-1 (TYRP-1) and -2 were also examined. The results demonstrate that treatment with HmHe significantly inhibits mushroom tyrosinase activity...
November 4, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27827420/fancd2-functions-as-a-critical-factor-downstream-of-mitf-to-maintain-the-proliferation-and-survival-of-melanoma-cells
#18
Julie Bourseguin, Caroline Bonet, Emilie Renaud, Charlotte Pandiani, Marina Boncompagni, Sandy Giuliano, Patrycja Pawlikowska, Houda Karmous-Benailly, Robert Ballotti, Filippo Rosselli, Corine Bertolotto
Proteins involved in genetic stability maintenance and safeguarding DNA replication act not only against cancer initiation but could also play a major role in sustaining cancer progression. Here, we report that the FANC pathway is highly expressed in metastatic melanoma harboring the oncogenic microphthalmia-associated transcription factor (MiTF). We show that MiTF downregulation in melanoma cells lowers the expression of several FANC genes and proteins. Moreover, we observe that, similarly to the consequence of MiTF downregulation, FANC pathway silencing alters proliferation, migration and senescence of human melanoma cells...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27827304/development-of-an-hts-compatible-assay-for-discovery-of-melanoma-related-microphthalmia-transcription-factor-disruptors-using-alphascreen-technology
#19
Jing Wang, Pengfei Fang, Peter Chase, Sagi Tshori, Ehud Razin, Timothy P Spicer, Louis Scampavia, Peter Hodder, Min Guo
Microphthalmia transcription factor (MITF) is a master transcription factor expressed in melanocytes, essential for melanocyte survival, differentiation, and pigment formation, and is a key oncogenic factor in melanoma initiation, migration, and treatment resistance. Although identified as an important therapeutic target for melanoma, clinical inhibitors directly targeting the MITF protein are not available. Based on the functional state of MITF, we have designed an MITF dimerization-based AlphaScreen (MIDAS) assay that sensitively and specifically mirrors the dimerization of MITF in vitro...
November 8, 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/27813694/autophagy-flux-in-ca1-neurons-of-alzheimer-hippocampus-increased-induction-overburdens-failing-lysosomes-to-propel-neuritic-dystrophy
#20
Matteo Bordi, Martin J Berg, Panaiyur S Mohan, Corrinne M Peterhoff, Melissa J Alldred, Shaoli Che, Stephen D Ginsberg, Ralph A Nixon
Defective autophagy contributes to Alzheimer disease (AD) pathogenesis although evidence is conflicting on whether multiple stages are impaired. Here, for the first time, we have comprehensively evaluated the entire autophagic process specifically in CA1 pyramidal neurons of hippocampus from early and late-stage AD subjects and nondemented controls. CA1 neurons aspirated by laser capture microdissection were analyzed using a custom-designed microarray comprising 578 neuropathology- and neuroscience-associated genes...
December 2016: Autophagy
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