Αποτελέσματα Αναζήτησης
10 Μαρ 2015 · ACTA2 (actin, α-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing familial thoracic aortic aneurysms and dissection and is responsible for 12% to 21% of familial thoracic aortic aneurysms and dissection cases. 3 – 6 ACTA2 encodes the smooth muscle–specific isoform of α-actin, which polymerizes to form the ...
- Acta2
ACTA2 (actin, -2, smooth muscle, aorta; OMIM *102620) α is...
- Circulation
Background— TGFBR2 mutations were recognized recently among...
- Acta2
1 Οκτ 2024 · ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6 . Among its related pathways are Actin Nucleation by ARP-WASP Complex and Integrin Pathway .
Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.
29 Μαΐ 2024 · Explore the implications of ACTA2 gene mutations in vascular diseases, including thoracic aortic aneurysms, moyamoya disease, and patent ductus arteriosus. Learn about clinical manifestations, diagnostic approaches, and management strategies for affected individuals.
A specific mutation (Arg179) of the ACTA2 gene has previously been described to cause a syndrome of multisystemic smooth muscle dysfunction with an extremely characteristic cerebrovascular appearance.
The chapter summarizes the logic of both quantitative and molecular genetic methods as well as their major findings as related to clinical psychology. Traditional and modern methods for estimating heritability based on familial relationships are described.
1 Νοε 2020 · We review the literature on the molecular genetics of psychological traits. •. We contrast the candidate gene with the GWAS approach. •. We provide ideas how to proceed with GWAS results. •. We describe current challenges and future prospects.
