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Full-Text Articles in Medicine and Health Sciences
Analyzing The Functions Of Human Polynucleotide Phosphorylase (Hpnpaseold-35), Upneet K. Sokhi
Analyzing The Functions Of Human Polynucleotide Phosphorylase (Hpnpaseold-35), Upneet K. Sokhi
Theses and Dissertations
RNA degradation plays a fundamental role in maintaining cellular homeostasis, along with being a part of normal regulatory mechanisms, whether it occurs as a surveillance mechanism eliminating aberrant mRNAs or during RNA processing to generate mature transcripts. 3’-5’ exoribonucleases are essential mediators of RNA decay pathways, and one such evolutionarily conserved enzyme is polynucleotide phosphorylase (PNPase). The human homologue of this fascinating enzymatic protein (hPNPaseold-35) was cloned a decade ago in the context of terminal differentiation and senescence through a novel ‘overlapping pathway screening’ approach. Since then, significant insights have been garnered about this exoribonuclease and its repertoire of expanding …
The Role Of P62 In Osteoclastogenesis And Paget’S Disease Of Bone, Tamer Hadi
The Role Of P62 In Osteoclastogenesis And Paget’S Disease Of Bone, Tamer Hadi
Theses and Dissertations
Paget’s disease (PDB) is the second most common metabolic bone disease after osteoporosis, affecting up to 3% of adults over age 55. It is characterized by focal lesions of bone resorbed by hyperactive osteoclasts coupled with rapid formation of highly disorganized, low quality bone formed by osteoblasts. Such lesions cause skeletal deformity, fractures, and other symptoms that significantly decrease quality of life. In 2001, mutations in the SQSTM1/p62 gene were found in a subset of Paget’s patients. The work summarized in this dissertation sought to answer two broad questions: what is the function of p62 in normal bone homeostasis and …
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
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 …