000009085 001__ 9085
000009085 005__ 20240124114317.0
000009085 0247_ $$2DOI$$a10.6083/ks65hc93b
000009085 037__ $$aETD
000009085 245__ $$aDNA methylation analysis of bicuspid aortic valve in Turner syndrome
000009085 260__ $$bOregon Health and Science University
000009085 269__ $$a2021
000009085 336__ $$aThesis
000009085 502__ $$bM.S.
000009085 520__ $$aTurner Syndrome (TS) is a rare cytogenetic disorder caused by the partial or complete loss of a second sex chromosome, which occurs in about 1 in 2,000 female live births. The most common cause of early mortality in TS is due to congenital heart defects. Bicuspid Aortic Valve (BAV) is the most common congenital heart defect in the general population with a prevalence of 0.5-2%. TS patients have the highest burden of BAV with a prevalence around 30% with near complete penetrance of aortic disease. Little is known about why there is such a large increase of BAV in TS. TS is associated with genome wide hypomethylation when compared to karyotypically normal female and male controls. Epigenetic alterations in BAV have been found with changes identified in circulating miRNAs and in DNA methylation profiles of primary aortic tissue. We hypothesize that BAV is associated with DNA methylation alterations in TS.
000009085 650__ $$aTurner Syndrome$$027514
000009085 650__ $$aDNA Methylation$$031400
000009085 6531_ $$acongenital heart defect
000009085 6531_ $$aepigenetics
000009085 6531_ $$amethyl capture sequencing
000009085 691__ $$aSchool of Nursing$$041370
000009085 692__ $$aDepartment of Medical Informatics and Clinical Epidemiology$$041422
000009085 7001_ $$aGutierrez, Jacob
000009085 8564_ $$9992d52f1-163d-47cd-b7b7-8430f0124916$$s3502836$$uhttps://digitalcollections.ohsu.edu/record/9085/files/Gutierrez.Jacob.2021.pdf
000009085 905__ $$a/rest/prod/ks/65/hc/93/ks65hc93b
000009085 909CO $$ooai:digitalcollections.ohsu.edu:9085$$pstudent-work
000009085 980__ $$aTheses and Dissertations