Evidence map›Paper›PMID 40678173›Full record

ArticleJournal of molecular and cellular cardiology plus2025

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.

Katherine B Stanley, Alexa V Mederos, Ethan H Barksdale, Joel S Corvera, Joshua L Davis, Fang Fang, Hongyu Gao, Courtney E Vujakovich, Yunlong Liu, Stephanie M Ware and 1 more

Abstract read
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In one paragraph

Article in Journal of molecular and cellular cardiology plus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

11 authors.

Katherine B StanleyDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Alexa V MederosDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Ethan H BarksdaleDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Joel S CorveraDepartment of Surgery, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Joshua L DavisDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Fang FangDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Hongyu GaoDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Courtney E VujakovichDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Yunlong LiuDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Stephanie M WareDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.
Benjamin J LandisDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, 46202, IN, USA.

Funding

Indiana Clinical and Translational Sciences InstituteUM1TR004402 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI Sharon M Moe, Sarah Elizabeth Wiehe · 2023 to 2026
$21.6M
Short-Term Training Program In Biomedical SciencesT35HL110854 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI Brittney-Shea Herbert, Catherine Rufatto Sears · 2012 to 2026
$3.4M
Novel molecular and cardiac imaging paradigms for precision medicine in aortopathyR01HL171631 · NHLBI · YALE UNIVERSITY · PI Benjamin John Landis · 2024 to 2026
$1.9M
Investigating the role of mitochondria in thoracic aortic aneurysm pathogenesisK23HL141667 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI LANDIS, BENJAMIN JOHN · 2019 to 2023
$810k
NCATS NIH HHS UM1 TR004402NHLBI NIH HHS K23 HL141667NHLBI NIH HHS R01 HL171631NHLBI NIH HHS T35 HL110854
6 · The paper itself

Abstract

Introduction: Transcriptional dysregulation in patients with Marfan syndrome (MFS) is complex and not well-defined. There are likely patient-specific and general mechanisms in the aortic pathology. In this study, we combine genome and transcriptome data from patients with MFS to determine the transcriptional impacts of disease-causing variants in Methods: Prospectively enrolled participants provided blood and aortic tissue samples. Smooth muscle cells (SMCs) were cultured directly from the proximal aortic tissues of MFS cases undergoing aortic root replacement and controls during heart transplant. Genome sequencing (GS) analysis was combined with mRNA-sequencing (mRNA-seq) and single-cell gene expression profiling of SMCs. Findings in SMC culture analysis were further investigated in primary frozen aortic tissues. Results: Automatic annotation of single-cell expression profiles classified 99% of cultured cells as SMCs. All disease-causing Conclusions: mRNA-seq analysis of SMCs accurately identified

Indexed as

Allelic expressionAortic smooth muscle cellGlycerophospholipidMarfan syndromeSingle-cellTranscriptome

Identifiers

PMID40678173
PMCPMC12269431

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.