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Full-Text Articles in Ophthalmology
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, …
Deciphering Mechanisms Governing The Development Of The Rod Epigenome, Philip Andrew Ruzycki
Deciphering Mechanisms Governing The Development Of The Rod Epigenome, Philip Andrew Ruzycki
Arts & Sciences Electronic Theses and Dissertations
Precisely coordinated expression of distinct sets of genes is essential for cellular development and function, especially in complex multicellular organisms. This regulation is achieved by the action of transcription factors (TF), proteins that bind specific genomic locations and alter the activity state and packaging of the DNA to promote or repress gene expression. However, while tremendous effort has defined networks of transcription factors that work together to drive specific phenotypes, little is known about their differential activity at the hundreds or thousands of sites where they bind. There are also many questions regarding the basic principles of the packaging of …