Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Marcel Martin,Marcel Martin,Lars Maßhöfer,Petra Temming,Sven Rahmann,Claudia H D Metz,Norbert Bornfeld,Johannes van de Nes,Ludger Klein-Hitpass,Alan G. Hinnebusch,Bernhard Horsthemke,Dietmar R. Lohmann,Michael Zeschnigk +12 more
TLDR
Using exome sequencing, recurrent somatic mutations in EIF1AX and SF3B1 are identified occurring in uveal melanomas with disomy 3, which rarely metastasize and are associated with poor prognosis.Abstract:
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.read more
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Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
TL;DR: In this paper, the authors showed that the presence of epidermal cells inhibited cell division and fragmented dendrites of melanocytes expressing GNAQQ209L in culture, while they promoted the growth of normal melanocytes.
Book ChapterDOI
Genetic Implications of Ocular Melanoma
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Uveal melanoma: laboratory advances and new frontiers in patient care.
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Massively parallel read mapping on GPUs with PEANUT
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TL;DR: PEANUT (ParallEl AligNment UTility), a highly parallel GPU-based read mapper with several distinguishing features, including a novel q-gram index (called the q-group index) with small memory footprint built on-the-fly over the reads and the possibility to output both the best hits or all hits of a read.
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High C-Reactive Protein Levels Are Related to Better Survival in Patients with Uveal Melanoma
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TL;DR: In this article , the authors used C-reactive protein (CRP) levels and serum markers of inflammation to predict whether patients with primary uveal melanoma will develop metastasis.
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