… with the same PRKG1 mutation experienced an acute type A aortic dissection with …
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic …

… that were more frequent in aneurysms than in normal aorta, as in … Gain-of-function mutations
of PRKG1 (on chromosome 10) … in PRKG1 mutations is the fact that the gain-of-function of …

… with thoracic aortic aneurysms and dissections. This rare … Repair for dissection-related
chronic aneurysmal degeneration was … ) PRKG1 mutation.7, 8 This mutation is a gain-of-function …

… the predisposition genes in hereditary thoracic aortic aneurysm and dissection (HTAAD), …
In the PRKG1 gene, a recurrent gain-of-function mutation (c.530G>A; p.Arg177Gln) causes …

… Thoracic aortic aneurysm affects 5.9 in 100,000 … mutation is located can predispose to a
certain phenotype, for example, patients with pathogenic variants in PRKG1 present with aortic …

… Three of the patients (3.7%) had a chronic type B dissection and 7% of patients had …
identified to harbour pathogenic (LOX and PRKG1) and potentially pathogenic variants (TGFBR1 …

… risk of first aortic event, specifically thoracic aortic aneurysm … of type B aortic dissection was
higher for ACTA2, PRKG1, and … heritable thoracic aortic disease, along with recurrent variants …

… Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute
aortic dissections. Am J Hum Genet … Recurrent gain-of-function mutation in PRKG1 causes …

… Germline gain-of-function mutations in ABL1 are associated with the congenital heart … (Gly370Ser),
are known to cause thoracic aortic aneurysm and/or dissection (TAAD) [145]. PRKG1 …

… Thoracic aortic aneurysm and dissection (TAAD) is a major … of ISMN used to treat chronic
stable angina pectoris ranges from … that a gain-of-function mutation in the human PRKG1 gene …