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Now showing items 21-30 of 43
Improving Stem Cell-Based Therapy and Developing a Novel Gene Therapy Approach for Treating Duchenne Muscular Dystrophy (DMD)
(2016-01-26)
Genetic mutations in muscle structural genes can compromise myofiber integrity, causing repeated muscle damage that ultimately exhausts muscle regenerative capacity and results in devastating degenerative conditions such ...
Towards Perfect Molecular Measurement
(2016-09-16)
The rapid pace of technological innovation has profoundly transformed life sciences research. Whereas less than 100 years ago researchers were often confined to descriptive and theoretical practices, modern scientists can ...
Interrogation of the RP-MDM2-P53 Axis in Human Ribosomopathies
(2015-05-15)
Ribosomopathies such as Diamond-Blackfan anemia (DBA) and 5q- syndrome are human diseases characterized by heterozygous loss or mutation of ribosome-associated genes. Hallmarks of these diseases include a macrocytic anemia ...
A sigma factor and anti-sigma factor that control swarming motility and biofilm formation in Pseudomonas aeruginosa
(2015-05-20)
Pseudomonas aeruginosa is an environmental bacterium and opportunistic human pathogen of major clinical significance. It is the principal cause of morbidity and mortality in patients with cystic fibrosis (CF) and a leading ...
Developments in Human Pluripotent Stem Cell Genome Engineering and in Situ Sequencing Technologies
(2015-05-19)
Technology is a key driving force in the advancement of scientific discoveries. While DNA sequencing uncovered the blueprint of life encoded in the human genome, functional roles of sequence variants remain largely unknown. ...
From Neural Stem Cells to Children: Secreted Phosphoprotein 1 in Lead Neurotoxicity
(2015-05-14)
Lead (Pb) exposure in the earliest stages of neurodevelopment leads to lasting deficits in cognitive function and behavior. Neural stem cells (NSCs) are multipotent stem cells and the first cells of the central nervous ...
Sialic acid variation as a determinant of Plasmodium invasion of erythrocytes in malaria infection
(2015-05-18)
Sialic acids are acidic sugars that terminate glycan chains on proteins or lipids on vertebrate cell surfaces. They vary greatly in structure, presentation and amount, all of which are important physiologically, but can ...
Metabolic Adaptations in Modern Human Populations: Evidence, Theory, and Investigation
(2015-05-15)
Diverse climates, infectious agents, and subsistence patterns drove humans to adapt metabolically to different environments since the migration out of Africa 100,000 years ago. In this dissertation, I review current ...
Investigating the Roles of IRF6 in Epithelial Maturation, Craniofacial Development, and Orofacial Cleft Pathogenesis
(2018-04-10)
Cleft lip and/or palates (CL/P) are common congenital malformations, and mutations in the transcription factor IRF6 are the most significant genetic contributors to cleft pathogenesis. IRF6 is a master regulator of epithelial ...
Of Xist and Dosage Compensation in Mammalian Development and Disease
(2017-01-10)
In mammals, equalized gene dosage between the sexes is ensured by a process called X chromosome inactivation (XCI). XCI, mediated by the long noncoding RNA Xist, initiates early in female embryogenesis, both in extraembryonic ...