Rare variants in <i>STAB2</i> in patients with chronic thromboembolic pulmonary hypertension
Rare variants in <i>STAB2</i> are identified in a CTEPH high-risk pedigree and are over-represented in nonrelated CTEPH cases compared to controls with PE. These data suggest that <i>STAB2</i> is a CTEPH risk gene.
Authors
- David Poch
- Nathan Hatton
- Nick H. Kim (ORCID: https://orcid.org/0000-0003-4702-650X)
- Mark Dodson (ORCID: https://orcid.org/0000-0002-4709-1048)
- Meghan M. Cirulis (ORCID: https://orcid.org/0000-0003-1520-1713)
- Timothy M. Fernandes (ORCID: https://orcid.org/0000-0001-9319-4200)
- Lisa Cannon‐Albright (ORCID: https://orcid.org/0000-0003-2602-3668)
- Mona Alotaibi (ORCID: https://orcid.org/0000-0001-8492-9930)
- Julianna Desmarais (ORCID: https://orcid.org/0000-0003-4803-3453)
- Demosthenes G. Papamatheakis (ORCID: https://orcid.org/0000-0001-8956-2357)
- Kim M. Kerr (ORCID: https://orcid.org/0000-0002-8193-8097)
- Kristina Allen‐Brady (ORCID: https://orcid.org/0000-0001-9394-5211)
- D. Hunter Best (ORCID: https://orcid.org/0000-0002-4756-4669)
- John J. Ryan
- J. B. Stevens
- C. Gregory Elliott
Institutions
- Oregon Health & Science University (US)
- University of Utah (US)
- Intermountain Medical Center (US)
- University of California System (US)
- University of California San Diego (US)
- George E. Wahlen Department of VA Medical Center (US)
- ARUP Institute for Clinical and Experimental Pathology
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- ERJ Open Research
- Published
- 2025-02-27
- DOI
- https://doi.org/10.1183/23120541.01322-2024
- Citations
- 3
- Primary Topic
- Pulmonary Hypertension Research and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.56
Funders
- Intermountain Research and Medical Foundation
- Actelion Pharmaceuticals