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Full-Text Articles in Molecular Biology

Characterization Of A Mucopolysaccharidosis Type I And Galnac Transferase Deficiency Double Knockout Mouse, Karan Gera Jan 2018

Characterization Of A Mucopolysaccharidosis Type I And Galnac Transferase Deficiency Double Knockout Mouse, Karan Gera

Graduate Theses and Dissertations

The mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) which are characterized by the aberrant primary storage of glycosaminoglycans (GAGs) in lysosomes of multiple organ and tissue systems. The most commonly diagnosed is MPS Type I (MPS I), caused by mutations in the gene which codes for α-L-iduronidase (IDUA). Biochemically, MPS I is characterized by the aberrant primary lysosomal storage of incompletely degraded dermatan and heparan sulfates, along with a secondary accumulation of gangliosides and other compounds in lysosomes. Its clinical manifestation in severe form leads to early death, characterized by progressive central nervous system disease (with behavioral ...


Insights Into Retinal Cell Fate Determination In Vertebrates Using Transcriptomic Profiling And Genome Editing, Rebecca Chowdhury Jan 2017

Insights Into Retinal Cell Fate Determination In Vertebrates Using Transcriptomic Profiling And Genome Editing, Rebecca Chowdhury

Graduate Theses and Dissertations

Deciphering the mechanisms of development of retinal neurons is not only of immense interest to developmental biologists, but is also vital for regenerative therapeutic applications. To attain this goal, it is critical to understand how specific intrinsic factors control cell fate decisions and neuronal maturation processes. In the retina, Atoh7 is a highly conserved transcription factor that is essential for retinal ganglion cell development in the developing mouse and zebrafish. Atoh7 labels a subset of cells in the developing retina that are progressing from a progenitor to a differentiated state. To capture cells during the window when the cell fate ...


Studies On The Molecular Underpinnings Of Sex Determination Mechanism Evolution And Molecular Sexing Tools In Turtles, Robert Alan Literman Jan 2017

Studies On The Molecular Underpinnings Of Sex Determination Mechanism Evolution And Molecular Sexing Tools In Turtles, Robert Alan Literman

Graduate Theses and Dissertations

Sex determination mechanisms (SDMs) direct the development of individuals towards a male or female fate, and in vertebrates they are typically controlled by an individual’s genotypic content (genotypic sex determination, GSD) or through an environmental cue experienced during development, mainly temperature (temperature-dependent sex determination, TSD). Among vertebrates, SDMs are surprisingly labile, transitioning between different forms of TSD and GSD in some lineages more than others. Turtles represent a model clade to study SDM evolution, as multiple independent transitions between TSD and GSD have occurred throughout their evolution and a growing number of genomic datasets have become available.

This dissertation ...


The Identification Of Effectors Of Retinal Cell Fate Determination Through Single Cell Transcriptomics, Jillian Joanne Goetz Jan 2015

The Identification Of Effectors Of Retinal Cell Fate Determination Through Single Cell Transcriptomics, Jillian Joanne Goetz

Graduate Theses and Dissertations

The vertebrate retina is an exquisite model for neurogenesis, with its common pool of retinal progenitors differentiating into six neuronal cell types and one glial variety, each of which interconnects to form a simply organized yet complexly functioning sensory tissue. Our long-term aim is to determine the cell-autonomous genetic programs that drive retinogenesis, but identifying these signals is complicated by many factors. First, retinal progenitor cells generate the various retinal cell types at distinct but overlapping time points, potentially obscuring the progression of cell-intrinsic signals over time. Second, signals that drive the development of rare, but functionally critical, neuronal subtypes ...


Structure-Function Analyses Of The Tre1 G Protein-Coupled Receptor, Margaret Marie Pruitt Jan 2012

Structure-Function Analyses Of The Tre1 G Protein-Coupled Receptor, Margaret Marie Pruitt

Graduate Theses and Dissertations

Cell migration is a process that is essential to animals during their entire lifetime and improper cell migration is implicated in diseased states such as cancer. Primordial germ cell migration in Drosophila melanogaster is an excellent model to study cell migration. The movements of Drosophila primordial germ cells are well documented and some of the molecules involved have been identified. The G protein-coupled receptor (GPCR) trapped in endoderm-1 (tre1) is one of the first genes involved in primordial germ cell migration. The work in this dissertation focuses on the GPCR Tre1, the roles of Tre1 in Drosophila germ cell migration ...