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Medicine and Health Sciences Commons

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Medical Genetics

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Virginia Commonwealth University

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Telomere

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Full-Text Articles in Medicine and Health Sciences

Mosaicism For Trisomy21: Utility Of Array-Based Technology For Its Detection And Its Influence On Telomere Length And The Frequency Of Acquired Chromosome Abnormalities, Chariyawan Charalsawadi Aug 2011

Mosaicism For Trisomy21: Utility Of Array-Based Technology For Its Detection And Its Influence On Telomere Length And The Frequency Of Acquired Chromosome Abnormalities, Chariyawan Charalsawadi

Theses and Dissertations

The primary aim of this study was to determine the effectiveness of array-based technology for detecting and quantifying the presence of mosaicism. This aim was achieved by studying individuals having mosaicism for Down syndrome. SNP arrays were performed on 13 samples from individuals with mosaicism for trisomy 21, 13 samples from individuals with normal chromosome 21complements (negative controls) and 5 samples from individuals with full or partial trisomy 21 (positive controls). In addition, BAC arrays were processed on 6 samples from individuals with mosaicism for trisomy 21, 3 negative controls and 1 positive control. These studies have shown that array-based …


Chaperone Association With Telomere Binding Proteins, Amy Depcrynski Jul 2009

Chaperone Association With Telomere Binding Proteins, Amy Depcrynski

Theses and Dissertations

The Hsp90 chaperone complex associates with the telomerase enzyme, facilitating the assembly of the ribonucleoprotein complex. While previous data from our laboratory indicate that Hsp90 and p23 remain stably associated with (functionally active) telomerase, more recent experiments suggest that these chaperones associate with telomeres independent of telomerase, presumably through a specific interaction with telomere binding proteins. The current study examines the novel interactions between TRF2, TRF1, TIN2 and TPP1 and molecular chaperones (Hsp90, Hsp70, p23). In vitro and in cell experiments have shown an interaction between TRF1 and TRF2 and the molecular chaperones Hsp90 and Hsp70. Inhibition of Hsp90 using …