Chronic mucocutaneous candidiasis: characterization of a family with STAT‐1 gain‐of‐function and development of an ex‐vivo assay for Th17 deficiency of... Chronic mucocutaneous candidiasis: characterization of a family with STAT‐1 gain‐of‐function and development of an ex‐vivo assay for ...
Sirtuin‐1 (SirT1) is a NAD+‐dependent class III histone deacetylase that influences the functional properties of target proteins e.g., endothelial nitric oxide (NO) synthase (eNOS). Physiological (e.g., aging) and pathophysiological (e.g., diet‐induced obesity) processes can reduce arteria...
Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss‐of‐function? 来自 Semantic Scholar 喜欢 0 阅读量: 40 摘要: Multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung's disease (HSCR) are two dominantly inherited...