ArticlePigment cell & melanoma research2009
Frequent mutations in the MITF pathway in melanoma.
Article in Pigment cell & melanoma research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
69 citing papers in PubMed, 145 citations in OpenAlex.
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- Preparation and Whitening Activity of Sialoglycopeptide of Chalaza from Liquid Egg Process.Molecules (Basel, Switzerland) · 2025Article
- Key Biomarker Correlations in Cutaneous Melanoma: Implications for Diagnostic, Prognostic, and Therapeutic Strategies-A Retrospective Single-Centered Study.Medicina (Kaunas, Lithuania) · 2025Article
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- Death associated protein like 1 acts as a novel tumor suppressor in melanoma by increasing the stability of P21 protein.Molecular and cellular biochemistry · 2025Article
- Clinical Significance of SOX10 Expression in Human Pathology.Current issues in molecular biology · 2023Review
- MiT/TFE Family Renal Cell Carcinoma.Genes · 2023Review
- MRGPRX2 signaling involves the Lysyl-tRNA synthetase and MITF pathway.Frontiers in immunology · 2023Article
- Anti-Melanogenesis Effects of a Cyclic Peptide Derived from Flaxseed via Inhibition of CREB Pathway.International journal of molecular sciences · 2022Article
- DNA promoter hypermethylation of melanocyte lineage genes determines melanoma phenotype.JCI insight · 2022Article
- SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Journal of medical genetics · 2022Review
- SOX10 requirement for melanoma tumor growth is due, in part, to immune-mediated effects.Cell reports · 2021Article
- How Neural Crest Transcription Factors Contribute to Melanoma Heterogeneity, Cellular Plasticity, and Treatment Resistance.International journal of molecular sciences · 2021Review
- The white matter is a pro-differentiative niche for glioblastoma.Nature communications · 2021Article
- The underestimated role of the microphthalmia-associated transcription factor (MiTF) in normal and pathological haematopoiesis.Cell & bioscience · 2021Review
- A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.Endocrinology, diabetes & metabolism case reports · 2021Article
- Insights into Differentiation of Melanocytes from Human Stem Cells and Their Relevance for Melanoma Treatment.Cancers · 2020Review
- Identification and characterization of the melanocortin 1 receptor gene (MC1R) in hypermelanistic Chinese tongue sole (Cynoglossus semilaevis).Fish physiology and biochemistry · 2020Article
- Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
Microphthalmia-associated transcription factor (MITF) is involved in melanocyte cell development, pigmentation and neoplasia. To determine whether MITF is somatically mutated in melanoma, we compared the sequence of MITF from primary and metastatic lesions to patient-matched normal DNA. In the 50 metastatic melanoma tumor lines analysed, we discovered four samples that had genomic amplifications of MITF and four that had MITF mutations in the regions encoding the transactivation, DNA binding or basic, helix-loop-helix domains. Sequence analysis for SOX10, a transcription factor, which both acts upstream of MITF and synergizes with MITF, identified an additional three samples with frameshift or nonsense mutations. Microphthalmia-associated transcription factor and SOX10 were found to be mutated in a mutually exclusive fashion, possibly suggesting disruption in a common genetic pathway. Taken together we found that over 20% of the metastatic melanoma cases had alterations in the MITF pathway. We show that the MITF pathway is also altered in primary melanomas: 2/26 demonstrated mutations in MITF and 6/55 demonstrated mutations in SOX10. Our findings suggest that altered MITF function during melanomagenesis can be achieved by MITF amplification, MITF single base substitutions or by mutation of its regulator SOX10.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.