Now showing items 1-4 of 4
Development and validation of high-resolution cardiovascular phenotyping strategies in zebrafish reveals the clinical relevance of ROBO4 to congenital heart defects
(Johns Hopkins University, 2017-07-07)
Bicuspid aortic valve (BAV) is a congenital heart defect, affecting 1-2% of the general population. Approximately 30% of individuals with BAV develop ascending aortic aneurysm (AscAA). Although the etiology of BAV/AscAA ...
THE CONTRIBUTION OF MOSAIC MUTATION TO AUTISM SPECTRUM DISORDER
(Johns Hopkins University, 2017-01-06)
Background Genetic variation arises as the result of both spontaneous and artificial processes. While genetic variation and natural selection are the only tools of evolution, genetic variation is also known to also cause ...
Genetics and mechanisms of telomere-mediated lung disease
(Johns Hopkins University, 2017-01-04)
Chronic lung disease is the third leading cause of death in the United States. Emphysema and pulmonary fibrosis are two of the most common forms and are thought in part to represent a premature aging phenotype in the lung. ...
Towards Structural Studies of Transcriptionally-coupled CRISPR Systems
(Johns Hopkins University, 2017-04-21)
Bacteria and archaea employ an adaptive immune system in the form of clustered regularly interspaced short palindromic repeats (CRISPR) to fend off mobile genetic elements. CRISPR arrays store immunological memory in the ...