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

doi:10.1016/j.ajhg.2016.03.022

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

American journal of human genetics - 2 Jun 2016

Li Na, Subrahmanyan Lakshman, Smith Emily, Yu Xiaoqing, Zaidi Samir, Choi Murim, Mane Shrikant, Nelson-Williams Carol, Behjati Mohaddeseh, 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 excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ductus Arteriosus, Patent

Share to Epigenesis, Genetic

Share to Fluorescent Antibody Technique

Share to Histones

Share to Immunoblotting

Share to Muscle Proteins

Share to Muscle, Smooth, Vascular

Source

Open in PubMed Open full text

Identifiers

PMID: 27181681
DOI: 10.1016/j.ajhg.2016.03.022
PMCID: PMC4908195

Genes

PRDM6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.PMID 27181681Read ↗

Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analysesSemantic proximity Read ↗

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.Semantic proximity Read ↗

Whole-exome Sequencing Identify Rare Variants in Novel Candidate Genes with Non-syndromic Patent Ductus ArteriosusSemantic proximity Read ↗

DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Congenital Heart DiseasesSemantic proximity Read ↗

PRISM/PRDM6, a transcriptional repressor that promotes the proliferative gene program in smooth muscle cells.Semantic proximity Read ↗

Genome-wide DNA methylation analysis of discordant monozygotic twins reveals consistent sites of differential methylation associated with congenital heart diseaseSemantic proximity Read ↗

DNA methylation abnormalities in congenital heart diseaseSemantic proximity Read ↗

Inducible Prmt1 ablation in adult vascular smooth muscle leads to contractile dysfunction and aortic dissection.Semantic proximity Read ↗

Genome and epigenome analysis of monozygotic twins discordant for congenital heart diseaseSemantic proximity Read ↗

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.Semantic proximity Read ↗

Transcriptional control of a novel long noncoding RNA Mymsl in smooth muscle cells by a single Cis-element and its initial functional characterization in vessels.Semantic proximity Read ↗

Transcriptome Analysis Reveals Differential Gene Expression between the Closing Ductus Arteriosus and the Patent Ductus Arteriosus in HumansSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.