Ontology highlight
ABSTRACT:
SUBMITTER: Schaefer B
PROVIDER: S-EPMC4599680 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Schaefer Benedikt B Haschka David D Finkenstedt Armin A Petersen Britt-Sabina BS Theurl Igor I Henninger Benjamin B Janecke Andreas R AR Wang Chia-Yu CY Lin Herbert Y HY Veits Lothar L Vogel Wolfgang W Weiss Günter G Franke Andre A Zoller Heinz H
Human molecular genetics 20150826 21
Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated with hepatic iron overload in a subgroup of patients. The underlying cause for this association is unknown. The aim of the present study was to define the genetics of this correlation and the effect of alpha-1-antitrypsin (A1AT) on the expression of the iron hormone hepcidin. Full exome and candidate gene sequencing were carried out in a family with A1ATD and hepatic iron overload. Regulation of hepcidin expression by A1AT ...[more]