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CD161<sup>+</sup> Tconv and CD161<sup>+</sup> treg share a transcriptional and functional phenotype despite limited overlap in TCRβ repertoire
© 2017 Duurland, Brown, O'Shaughnessy and Wedderburn. Human regulatory T cells (Treg) are important in immune regulation, but can also show plasticity in specific settings. CD161 is a lectin-like receptor and its expression ...
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene ...
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and ...