Ontology highlight
ABSTRACT:
SUBMITTER: Li N
PROVIDER: S-EPMC4908195 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Li Na N Subrahmanyan Lakshman L Smith Emily E Yu Xiaoqing X Zaidi Samir S Choi Murim M Mane Shrikant S Nelson-Williams Carol C Behjati Mohaddeseh M Kazemi Mohammad M Hashemi Mohammad M Fathzadeh Mohsen M Narayanan Anand A Tian Likun L Montazeri Farhad F Mani Mitra M Begleiter Michael L ML Coon Brian G BG Lynch Henry T HT Olson Eric N EN Zhao Hongyu H Ruland Jürgen J Lifton Richard P RP Mani Arya A
American journal of human genetics 20160512 6
Nonsyndromic patent ductus arteriosus (PDA) is a common congenital heart defect (CHD) with both inherited and acquired causes, but the disease mechanisms have remained elusive. Using combined genome-wide linkage analysis and whole-exome sequencing (WES), we identified independent mutations in PRDM6, which encodes a nuclear protein that is specific to vascular smooth muscle cells (VSMC), has histone methyl transferase activities, and acts as a transcriptional suppressor of contractile proteins. I ...[more]