SOX17 enhancer variants disrupt transcription factor binding and enhancer inactivity drives pulmonary hypertension

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease characterised by remodelling of the pulmonary arteries, increased vascular resistance and right heart failure. Genome-wide association studies (GWAS) of idiopathic/heritable PAH established novel genetic risk variants including cons...

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Detalles Bibliográficos
Autores principales: Walters, Rachel, Vasilaki, Eleni, Aman, Jurjan, Chen, Chien-Nien, Wu, Yukyee, Liang, Olin D, Ashek, Ali, Dubois, Olivier, Zhao, Lin, Sabrin, Farah, Cebola, Inês, Ferrer, Jorge, Morrell, Nicholas W, Klinger, James R, Wilkins, Martin R, Zhao, Lan, Rhodes, Christopher J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614572/
https://www.ncbi.nlm.nih.gov/pubmed/37066790
http://dx.doi.org/10.1161/CIRCULATIONAHA.122.061940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614572/
https://www.ncbi.nlm.nih.gov/pubmed/37066790
http://dx.doi.org/10.1161/CIRCULATIONAHA.122.061940

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