Monogenetic disorders of the cholesterol metabolism and premature cardiovascular disease
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Pharmacology"
DOI: 10.1016/j.ejphar.2017.09.046
Abstract: Abstract Cholesterol is of vital importance for normal function of organisms. However, a high serum level is associated with an increased risk of cardiovascular disease. In this review an overview is presented of the different… read more here.
Keywords: premature cardiovascular; cholesterol metabolism; monogenetic disorders; disease ... See more keywords
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.688022
Abstract: Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or… read more here.
Keywords: magenis syndrome; kinase syndrome; activated pi3; pi3 kinase ... See more keywords