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Full-Text Articles in Medicine and Health Sciences
The Mechanism Of Obesity In Rai1+/- Mice, Kristie Schmidt
The Mechanism Of Obesity In Rai1+/- Mice, Kristie Schmidt
Theses and Dissertations
Smith-Magenis syndrome (SMS) is a genetic disorder caused by a deletion or mutation of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2 that results in haploinsufficiency. SMS patients with a deletion account for 90% of the cases, while the other 10% have a mutation in RAI1. The syndrome is characterized by cognitive impairment, craniofacial abnormalities, sleep disturbances, developmental delay, obesity, and behavioral phenotypes. SMS is thought to affect 1:25,000 live births, although due to similar infantile phenotypes with Down syndrome and Prader-Willi syndrome, SMS may be mis- or under-diagnosed. In a study of 54 children, it was shown …
Perifosine, A Novel Akt Inhibitor Induces Apoptosis, Cell Cycle Arrest And Has A Chemo-Sensitizing Effect In Medulloblastoma Cell Lines, Anil Kumar
Theses and Dissertations
Primary central nervous system (CNS) tumors are the most common solid tumors found in children. While surgery and radiotherapy still remain the standard treatment modalities in pediatric brain tumors, chemotherapy also has an important part in the management of these tumors. However, most of the available chemotherapeutic drugs have suboptimal effectiveness. Deregulation of various pro-apoptotic and anti-apoptotic pathways has been cited as a major mechanism underlying this drug resistance. The role of various serine threonine kinases, including Akt kinases, in promoting drug resistance is being extensively studied in various cancers. A complete understanding of the molecular mechanisms that underlie drug …