关键词: Aneurysm Aortic dissection Bicuspid aortic valve Genetics IMT MMPs Marfan disease Mutations intimal–medial thickness matrix metalloproteinases

Mesh : Adolescent Adult Aged Aneurysm, Dissecting / diagnosis genetics therapy Aortic Aneurysm, Thoracic / diagnosis genetics therapy Child Female Gene Expression Profiling Genetic Markers Genetic Predisposition to Disease Genetic Testing Heredity Humans Male Middle Aged Pedigree Phenotype Predictive Value of Tests Prognosis Risk Assessment Risk Factors Young Adult

来  源:   DOI:10.1016/j.pcad.2013.06.002   PDF(Sci-hub)

Abstract:
This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational \"RNA Signature\" test that we have been developing at Yale.
摘要:
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