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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.

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Reprogramming Pediatric Genetic Disorders: Pearson Syndrome, Ring 14 Syndrome, and Fanconi Anemia

Cherry, Anne Blanche Cresswell 04 June 2015 (has links)
The effect of a single genetic mutation can vary greatly between different types of cells. The mutated gene may not be expressed in one tissue but may cause a devastating loss of function in another. To learn about disease mechanisms and generate novel therapies, genetic disorders must be studied in the types of cells where the mutations are most deleterious. Recently, scientists have begun manipulating cellular identity to create the cell types most affected by various genetic diseases. This dissertation describes the experience of generating reprogramming models for three genetic disorders: Ring 14 syndrome, Pearson syndrome, and Fanconi anemia.
Biology
Molecular biology
Cellular biology
Disease model
Fanconi Anemia
Heteroplasmy
iPS
Pearson syndrome
Ring 14

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