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Full-Text Articles in Biochemistry, Biophysics, and Structural Biology
Innate Immune Responses In The Lung And Liver, Rana Basem Dajani
Innate Immune Responses In The Lung And Liver, Rana Basem Dajani
Theses and Dissertations
The innate immune system provides nonspecific defenses against pathogens. Many diseases occur because of malfunctions in the innate immune system. In the present thesis, I have investigated two independent mechanisms of innate immunity in the lung and liver. Both mechanisms involve responses to bacterial infection and/or components of the bacterial wall (lipopolysaccharide). In the first model, I studied the role of submucosal glands in lung innate immunity through the use of tracheal xenograft airways with and without glands. This work provides evidence that submucosal glands are a major source of antibacterials that are critical for maintaining sterile airways. In ...
Modifier Genes In The Phenotypic Manifestation Of Primary Disease-Causing Mutations, Suma Prabhu Shankar
Modifier Genes In The Phenotypic Manifestation Of Primary Disease-Causing Mutations, Suma Prabhu Shankar
Theses and Dissertations
Primary disease-causing mutations have been identified in many inherited eye diseases. However, there is a wide range of variation in the penetrance and phenotypic expression of these mutations, making identification of the mutation alone insufficient in providing accurate prognosis and treatment. We studied two genetic eye diseases in which the primary disease-causing mutations have been identified: Leber hereditary optic neuropathy (LHON), a maternally transmitted disorder caused by mitochondrial mutations, and autosomal dominant retinal dystrophies (adRD), caused by a splice site mutation (IVS2+3A→T) in the peripherin/RDS gene. Incomplete penetrance in LHON and phenotypic variation in adRD suggest a ...