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Full-Text Articles in Life Sciences
The Evolution Of Transposable Elements As Cis-Regulatory Elements In Mammals, Alan Y. Du
The Evolution Of Transposable Elements As Cis-Regulatory Elements In Mammals, Alan Y. Du
Arts & Sciences Electronic Theses and Dissertations
Transposable elements (TEs) are mobile genetic elements that make up a large proportion of mammalian genomes. Although TEs are highly prevalent genomic sequences, they have been understudied as they were once labeled as “junk DNA.” Despite their initial status as simple genomic parasites, recent studies have implicated TEs as cis-regulatory elements, supplying promoters, enhancers, and boundary elements. Functional testing of regulatory activity, however, remains a significant bottleneck. Nonetheless, due to their repetitive nature, TEs provide a unique model to examine the evolution of cis-regulatory elements, which has traditionally been difficult to study due to lack of homology at the sequence …
Understanding The Role Of Involucrin In Skin Inflammation, Alina Schmidt
Understanding The Role Of Involucrin In Skin Inflammation, Alina Schmidt
Arts & Sciences Electronic Theses and Dissertations
Terminally differentiated keratinocytes are essential for skin barrier function and are surrounded by an involucrin (IVL)-rich cornified envelope. Increased IVL expression in the epidermis is associated with recent positive selection in European populations, yet the functional significance of this finding is unclear. An upstream enhancer of IVL, the 923 enhancer, regulates IVL expression, and the impact of IVL enhancer variants on involucrin expression in modifying the penetrance of filaggrin (FLG) loss-of-function variants associated with atopic dermatitis (AD) has not been explored. I hypothesize involucrin to modulate the environmentally sensitive Vitamin D receptor (Vdr) activity in the epidermis and involucrin enhancer …
Association Of Structural Variation (Sv) With Cardiometabolic Traits In Finns, Lei Chen
Association Of Structural Variation (Sv) With Cardiometabolic Traits In Finns, Lei Chen
Arts & Sciences Electronic Theses and Dissertations
Cardiovascular diseases (CVDs) are known to be associated with a variety of quantitative risk factors such as cholesterol, metabolites, and insulin. Understanding the genetic basis of these quantitative traits can shed light on the etiology, prevention, diagnosis, and treatment of disease. However most prior trait-mapping studies have focused on single nucleotide variants (SNVs) and Indels, with the contribution of structural variation (SV) remaining unknown. In this thesis, we present the results of a study examining genetic association between SVs and cardiometabolic traits in the Finnish population. In the first chapter, we used sensitive methods to identify and genotype 129,166 high-confidence …
The Role Of Fibrillin-1 In Eye Development And Disease, Wendell Brooks Jones
The Role Of Fibrillin-1 In Eye Development And Disease, Wendell Brooks Jones
Arts & Sciences Electronic Theses and Dissertations
The ciliary zonule of the human eye consists of a circumferential array of fibers that connect the ocular lens to the nonpigmented ciliary epithelium (NPCE) located at the inner wall of the eye. Zonular fibers consist of bundles of beaded filaments called microfibrils. Microfibrils are major structural elements of the extracellular matrix and are present in pure form in the ciliary zonule. Microfibrils are composed principally of fibrillin-1 (FBN-1); a large extracellular matrix glycoprotein. In humans, mutations in FBN1 underlie Marfan syndrome; a pleiotropic connective tissue disorder that profoundly affects the eye. Ocular manifestations include ectopia lentis (dislocated lenses), cataracts, …
The Sacred Emergence Of Nature, Ursula Goodenough, Terrence W. Deacon
The Sacred Emergence Of Nature, Ursula Goodenough, Terrence W. Deacon
Biology Faculty Publications & Presentations
No abstract provided.