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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res. 2016; 
Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM.
Products/Services Used Details Operation
Recombinant Antibody Services Construction of LOX recombinant plasmids: WT-LOX was amplified by using pcDNA-LOX (GenScript, Inc. Get A Quote

摘要

Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families.,To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections.,Exome sequencing was used to identify the mutation responsible for a large family with thoracic aortic aneurysms and dissections. A heterozygous rare variant, c.839G>T (p.Ser280Arg), was identified in LOX, encoding a lysyl oxidase, that segregated with disease in the family. Sanger and exome sequencing was used to investigate mutations in LOX in an additional 410 probands from u... More

关键词

aortic aneurysm; aortic diseases; exome; mutation