Genetics of hereditary large vessel diseases.
Ōsaka, Japan. In J Hum Genet, 08 Nov 2015
Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others.
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
Saint Louis, United States. In J Bone Joint Surg Am, 02 Oct 2015
METHODS: The coding regions of five clinically actionable genes associated with scoliosis (COL3A1, FBN1, TGFBR1, TGFBR2, and SMAD3) and aortic aneurysm were sequenced in 343 adolescent idiopathic scoliosis cases.
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
New Haven, United States. In Ann Thorac Surg, Aug 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Heritable thoracic aortic disorders.
In Curr Opin Cardiol, 2014
RECENT FINDINGS: A classification scheme based on the gene is emerging, those that affect primarily the extracellular matrix (e.g., FBN1, COL3A1), TGF-β signaling (e.g., TGFBR1, TGFB2), or vascular smooth muscle cell contractility (e.g., ACTA2, MYH11).