Ontology highlight
ABSTRACT:
SUBMITTER: Del Viso F
PROVIDER: S-EPMC5021619 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Developmental cell 20160901 5
Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryon ...[more]