Academic literature on the topic 'BRAFV600E-ref'

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Journal articles on the topic "BRAFV600E-ref"

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Sveen, Anita, Kushtrim Kryeziu, Solveig M. K. Klokkerud, et al. "Abstract IA009: Tumor organoids of multi-metastatic colorectal cancer: From research tools to treatment decision tools." Cancer Research 82, no. 23_Supplement_1 (2022): IA009. http://dx.doi.org/10.1158/1538-7445.crc22-ia009.

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Abstract Most patients with colorectal cancer (CRC) do not have an “actionable” target based on molecular tumor profiling. Ex vivo drug sensitivity testing of tumor organoids holds promise as a complementary approach in precision oncology. We have established a pre-clinical pharmacogenomics platform for CRC at Oslo University Hospital. A living biobank of 208 organoids of distinct liver lesions from 100 patients treated by hepatic resection for metastatic CRC was generated in the observational phase of the project. Sensitivity testing of custom drug libraries (n=40-47 drugs) and molecular prof
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De Paolo, Raffaella, Samanta Sarti, Sara Bernardi, et al. "Differential impact of BRAFV600E isoforms on tumorigenesis in a zebrafish model of melanoma." Cell & Bioscience 13, no. 1 (2023). http://dx.doi.org/10.1186/s13578-023-01064-w.

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AbstractBRAFV600E comes as two main splicing variants. The well-studied ref isoform and the recently discovered X1 isoform are co-expressed in cancer cells and differ in terms of 3’UTR length and sequence, as well as C-term protein sequence. Here, we use a melanoma model in zebrafish to study the role played by each isoform in larval pigmentation, nevi formation, and their progression into melanoma tumours. We show that both BRAFV600E-ref and BRAFV600E-X1 proteins promote larval pigmentation and nevi formation, while melanoma-free survival curves performed in adult fish indicate that BRAFV600E
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Mikhael, Alexandra, Nitesh Gautam, Lauren Anne Buehler, and Mario Skugor. "SUN-278 Isolated Hypothalamic Langerhans Cell Histiocytosis in an Adult Manifesting as Panhypopituitarism." Journal of the Endocrine Society 4, Supplement_1 (2020). http://dx.doi.org/10.1210/jendso/bvaa046.133.

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Abstract Background: Langerhans Cell Histiocytosis (LCH) is a rare disease characterized by abnormal proliferation of bone marrow derived histiocytes. Although predominantly a childhood disease, LCH can occur at any age and has an incidence of one to two cases per million in adults. LCH can involve a single organ or present as disseminated disease. Sites most commonly affected are bone, skin, bone marrow and pituitary. Isolated hypothalamic LCH is a rare entity. A few reports of LCH presenting as a hypothalamic mass exist but mainly in children. Treatment of adult LCH is derived from pediatric
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Podda, Maurizio S., Danilo Tatoni, Gianluca Mattei, Alberto Magi, Romina D'Aurizio, and Laura Poliseno. "Landscape of BRAF transcript variants in human cancer." Molecular Oncology, May 25, 2025. https://doi.org/10.1002/1878-0261.70043.

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The BRAFV600E mutant kinase is widely studied as a cancer driver and therapeutic target. Here, we investigated how the annotation of the BRAF‐reference (ref) and BRAF‐X1 variants has evolved in public databases and addressed challenges posed by their discrimination and quantification from short‐read sequencing. We built IsoWorm, a bioinformatic pipeline tailored to discriminate and quantify BRAF variants, and employed it to analyze > 600 cancer cell lines and > 1000 cancer tissue samples. Using FLIBase, we reanalyzed TCGA data from > 9000 cancer tissue samples. We consistently found t
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Dissertations / Theses on the topic "BRAFV600E-ref"

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De, Paolo Raffaella. "Zebrafish models in melanoma research: analysis of coding and non-coding BRAFV600E." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1215235.

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Malignant melanoma is one of the most aggressive types of cancer. While early-stage melanoma can be cured by surgical excision, late-stage melanoma remains a highly lethal disease. Current therapeutic strategies, including single agents or combined therapies, are hampered by low response rates and by diverse resistance mechanisms. The most frequent mutation in malignant melanoma is the V600E substitution in the BRAF oncogene. This mutation constitutively activates the MAPK pathway, promoting cell survival, proliferation, and motility. Among the impacting therapies, BRAFV600E inhibitors (BRAFi
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