Publications by authors named "R A Berna"

Article Synopsis
  • Giant congenital melanocytic nevi (GCMN) can be visually impactful and have the potential to develop into melanoma.
  • Currently, there is no established drug treatment for GCMN.
  • A case study describes an 8-year-old girl with kaposiform lymphangiomatosis linked to an NRAS mutation, whose GCMN showed improvement after treatment with oral selumetinib.
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Components of the immune response have previously been associated with the pathophysiology of atopic dermatitis (AD), specifically the Human Leukocyte Antigen (HLA) Class II region genome-wide association studies, however the exact elements have not been identified. This study examines the genetic variation of HLA Class II genes using next generation sequencing (NGS) and evaluates the resultant amino acids, with particular attention on binding site residues, for associations with AD. The Genetics of AD cohort was used to evaluate HLA Class II allelic variation on 464 subjects with AD and 384 controls.

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Natural killer cells (NK) have been associated with the pathophysiology of atopic dermatitis (AD). NK function is regulated by killer cell Ig-like receptor family (KIR) receptors that interact with HLA ligands. The study goal was to focus on allelic variation in genes KIR2DL5, KIR2DS5, and KIR2DS1 with respect to AD.

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