Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome
mRNA-seq analysis of SMCs accurately identified <i>FBN1</i> variants. General and patient-specific effects on allelic and gene expression were identified. Metabolism of glycerophospholipids may be dysregulated in aortic SMCs in MFS. Identifying pathogenic features with transcriptome analysis may guide novel diagnostic and therapeutic strategies.
Authors
- Stephanie M. Ware (ORCID: https://orcid.org/0000-0003-4714-0142)
- Yunlong Liu (ORCID: https://orcid.org/0000-0002-5612-3283)
- Joshua Saul Davis (ORCID: https://orcid.org/0000-0001-9864-5699)
- Joel S. Corvera
- Benjamin J. Landis (ORCID: https://orcid.org/0000-0001-5837-8581)
- Courtney E. Vujakovich
- Hongyu Gao (ORCID: https://orcid.org/0000-0001-8633-3604)
- Alexa V. Mederos (ORCID: https://orcid.org/0000-0002-3914-4082)
- Katherine Stanley (ORCID: https://orcid.org/0009-0006-3444-5050)
- Fang Fang (ORCID: https://orcid.org/0000-0001-6362-7896)
- Ethan H Barksdale
Institutions
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Journal of Molecular and Cellular Cardiology Plus
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1016/j.jmccpl.2025.100467
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Heart Association
- National Institutes of Health
- National Heart, Lung, and Blood Institute