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Full-Text Articles in Medical Genetics
Prevalence Of Premature Ovarian Failure In Women With Tuberous Sclerosis, Emily Gabitzsch
Prevalence Of Premature Ovarian Failure In Women With Tuberous Sclerosis, Emily Gabitzsch
Dissertations & Theses (Open Access)
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor disorder characterized by hamartomas, or benign growths, in various organ systems. Inactivating mutations in either the TSC1 or the TSC2 gene cause most cases of TSC. Recently, the use of ovarian specific conditional knock-out mouse models has demonstrated a crucial role of the TSC genes in ovarian function. Mice with complete deletion of Tsc1 or Tsc2 showed accelerated ovarian follicle activation and subsequent premature follicular depletion, consistent with the human condition premature ovarian failure (POF). POF is defined in women as the cessation of menses before the age of 40 …
Post-Transcriptional Regulation Of Afp And Igm Genes, Lilia M. Turcios
Post-Transcriptional Regulation Of Afp And Igm Genes, Lilia M. Turcios
University of Kentucky Doctoral Dissertations
Gene expression can be regulated at multiple steps once transcription is initiated. I have studied two different gene models, the α-Fetoprotein (AFP) and the immunoglobulin heavy chain (IgM) genes, to better understand post-transcriptional gene regulation mechanisms. The AFP gene is highly expressed during fetal liver development and dramatically repressed after birth. There is a mouse strain-specific difference between adult levels of AFP, with BALB/cJ mice expressing 10 to 20-fold higher levels compared to other mouse strains. BALB/cJ mice express low levels of Zhx2 and thus incompletely repress AFP. Despite differences in steady state AFP mRNA levels in the adult liver …