Publications by authors named "E Stelloo"

To stimulate cell growth, the protein kinase complex mTORC1 requires intracellular amino acids for activation. Amino-acid sufficiency is relayed to mTORC1 by Rag GTPases on lysosomes, where growth factor signaling enhances mTORC1 activity via the GTPase Rheb. In the absence of amino acids, GATOR1 inactivates the Rags, resulting in lysosomal detachment and inactivation of mTORC1.

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Structural variants (SVs) caused by chromosomal rearrangements in common fragile sites or long interspersed nuclear element (LINE) retrotranspositions are highly prevalent in colorectal cancer. However, methodology for the targeted detection of these SVs is lacking. This article reports the use of formalin-fixed, paraffin-embedded targeted-locus capture (FFPE-TLC) sequencing as a novel technology for the targeted detection of tumor-specific SVs.

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Article Synopsis
  • Juvenile xanthogranuloma (JXG) is a type of skin tumor mostly found in children, but some cases occur in other parts of the body, and their genetic causes are not fully understood.* -
  • A study analyzed 16 children and 5 adults with extracutaneous JXG using advanced sequencing, finding that numerous genetic alterations, especially related to kinase fusions, were present in most children.* -
  • The findings indicate that while surgery is common for treatment, some cases can regress on their own, and specific genetic alterations could help inform better treatment options in the future.*
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Human papillomavirus (HPV) infections are an increasing cause of oropharyngeal squamous cell carcinomas (OPSCC). Integration of the viral genome into the host genome is suggested to affect carcinogenesis, however, the correlation with OPSCC patient prognosis is still unclear. Research on HPV integration is hampered by current integration detection technologies and their unsuitability for formalin-fixed paraffin-embedded (FFPE) tissues.

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