Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24433
Abstract: Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have… read more here.
Keywords: pathogenic variants; disease underestimated; isolated aneurysmal; aneurysmal disease ... See more keywords
Update on the molecular landscape of thoracic aortic aneurysmal disease.
Sign Up to like & getrecommendations! Published in 2022 at "Current opinion in cardiology"
DOI: 10.1097/hco.0000000000000954
Abstract: PURPOSE OF THE REVIEW Thoracic aortic aneurysms and dissections (TAADs) are a major health problem in the Western population. This review summarises recent discoveries in the genetic landscape of TAAD disease, discusses current challenges in… read more here.
Keywords: disease; thoracic aortic; taad disease; aneurysmal disease ... See more keywords