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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working GroupNARA Subscribed
Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesi...
Iron cycling in Arctic methane seepsNARA Subscribed
Anoxic marine sediments contribute a significant amount of dissolved iron (Fe 2+ ) to the ocean which is crucial for the global carbon cycle. Here, we investigate iron cycling in four Arctic cold seeps where sediments are anoxic and sulfidic due to the high rates of methane-fueled sulfate reduction. We estimated Fe 2+ diffusive fluxes towards the oxic sediment layer to be in the range of 0.8 to 138.7 μmole/m 2 /day and Fe 2+ f...
The recent discovery of methane seeps in the Arctic region requires a better understanding of the fate of methane in marine sediments if we are to understand the contributions of methane to Arctic ecosystems and climate change. To this goal, we analyze pore water data from five sites along eastern Vestnesa Ridge, a sediment drift off‐north‐west Svalbard, to quantify the consumption of dissolved methane across the sulfate‐metha...
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