KCNJ5 Mutations: Sex, Salt and Selection.
Torino, Italy. In Horm Metab Res, Dec 2015
Somatic mutations have been identified in the KCNJ5 gene (encoding the potassium channel GIRK4) in aldosterone-producing adenomas (APA).
Characterising the immune profile of the kidney biopsy at lupus nephritis flare differentiates early treatment responders from non-responders.
Columbus, United States. In Lupus Sci Med, 2014
The top genes responsible for CR clustering included several interferon pathway genes (STAT1, IRF1, IRF7, MX1, STAT2, JAK2), while complement genes (C1R, C1QB, C6, C9, C5, MASP2) were mainly responsible for NR clustering.
Genetics of mineralocorticoid excess: an update for clinicians.
Paris, France. In Eur J Endocrinol, 2013
Although genetic causes underlying glucocorticoid-remediable aldosteronism, one of the three Mendelian forms of PA, were established some time ago, somatic and inherited mutations in the potassium channel GIRK4 have only recently been implicated in the formation of aldosterone-producing adenoma (APA) and in familial hyperaldosteronism type 3.
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Roma, Italy. In Mediterr J Hematol Infect Dis, 2012
ADAMTS13 consists of numerous domains including a metalloprotease domain, a disintegrin domain, several thrombospondin type 1 (TSP1) repeats, a cysteine-rich domain, a spacer domain and 2 CUB (Complement c1r/c1s, sea Urchin epidermal growth factor, and Bone morphogenetic protein) domains.