Αποτελέσματα Αναζήτησης
10 Μαρ 2015 · Individuals with ACTA2 mutations present with both type A and type B aortic dissections at significantly younger ages than individuals enrolled in the International Registry of Acute Aortic Dissection (IRAD) study 22 and are likely to report a family history of thoracic aortic disease.
- Acta2
OMIM No. 154700) or a related connective tissue disorder....
- Circulation
Background— TGFBR2 mutations were recognized recently among...
- Acta2
3 Ιουν 2019 · Testing for hereditary susceptibility syndromes has evolved considerably since 1995, when clinically available BRCA mutation testing detected 85% of point mutations, small insertions and deletions in the BRCA1/2 genes.
23 Απρ 2024 · Gene therapy is done to: Fix genes that don't work properly. Faulty genes that cause disease could be turned off so that they no longer promote disease. Or healthy genes that help prevent disease could be turned on so that they could stop the disease. Replace genes that don't work properly.
ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations.
The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Learn about this gene and related health conditions.
4 Δεκ 2017 · Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome.
Direct and indirect cerebral revascularization procedures are the mainstay treatment options with varying degrees of success. Key Messages: ACTA2 cerebral arteriopathy is a recently described novel cerebrovascular disease seen in patients with MSMDS.
