Back to search

Article

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate <i>FBLN2</i> , <i>PDGFD</i> and rare <i>de novo</i> variants in PAH

2020-05-30

Abstract excerpt

<h4>Background</h4> Group 1 pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy and heart failure. Recent high-throughput sequencing studies have identified additional PAH risk genes and suggested differences in genetic causes by age of onset. However, known risk genes...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
4514119d-1edc-5cf5-a9d4-16a98ee1737f
DOI
10.1101/2020.05.29.124255
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate <i>FBLN2</i> , <i>PDGFD</i> and rare <i>de novo</i> variants in PAHDOI 10.1101/2020.05.29.124255
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.Semantic proximity
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.Semantic proximity
Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.Semantic proximity
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.Semantic proximity
Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension.Semantic proximity
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.Semantic proximity
Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertensionSemantic proximity
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension.Semantic proximity
The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.Semantic proximity
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.Semantic proximity
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult casesSemantic proximity
Genetics and Genomics of Pediatric Pulmonary Arterial HypertensionSemantic proximity
Select a neighboring publication to make it the new centre.