Ontology highlight
ABSTRACT:
SUBMITTER: Mullenbach R
PROVIDER: S-EPMC3317184 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Müllenbach Roman R Weber Susanne N SN Lammert Frank F
Journal of lipids 20111221
This review aims to provide a snapshot of the actual state of knowledge on genetic variants of nuclear receptors (NR) involved in regulating important aspects of liver metabolism. It recapitulates recent evidence for the application of NR in genetic diagnosis of monogenic ("Mendelian") liver disease and their use in clinical diagnosis. Genetic analysis of multifactorial liver diseases such as viral hepatitis or fatty liver disease identifies key players in disease predisposition and progression. ...[more]