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Titel:

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Dokumenttyp:
Journal Article
Autor(en):
Li, Na; Subrahmanyan, Lakshman; Smith, Emily; Yu, Xiaoqing; Zaidi, Samir; Choi, Murim; Mane, Shrikant; Nelson-Williams, Carol; Bahjati, Mohadesseh; Kazemi, Mohammad; Hashemi, Mohammad; Fathzadeh, Mohsen; Narayanan, Anand; Tian, Likun; Montazeri, Farhad; Mani, Mitra; Begleiter, Michael L; Coon, Brian G; Lynch, Henry T; Olson, Eric N; Zhao, Hongyu; Ruland, Jürgen; Lifton, Richard P; Mani, Arya
Abstract:
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...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2016
Band / Volume:
98
Heft / Issue:
6
Seitenangaben Beitrag:
1082-91
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2016.03.022
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27181681
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Klinische Chemie und Pathobiochemie
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