Search for dissertations about: "loss-of-function"
Showing result 1 - 5 of 136 swedish dissertations containing the word loss-of-function.
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1. Rett syndrome, motor development, mobility and orthostatic reactions : loss of function, difficulties and possibilities
Abstract : Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. READ MORE
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2. Population Genetics of Human Genomic Elements
Abstract : The genomes of living organisms are composed of a multitude of functional units, which interact with each other and their environment in a highly regulated fashion, to facilitate the expression of an enduring (and evolving) phenotype. Several approaches have emerged in the effort to identify these functional units and explore their activities. READ MORE
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3. Genomic studies of mating system variation in flowering plants
Abstract : The striking diversity of reproductive strategies that flowering plants exhibit remains one of the most intriguing conundrums in evolutionary biology. Pollination-related traits and mating system strategies have a major impact on the processes shaping plant evolution through their effects on genetic diversity and selection. READ MORE
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4. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders
Abstract : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. READ MORE
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5. Glycosaminoglycan Biosynthesis and Function in Zebrafish Development : Sugars Shaping Skeletons
Abstract : Heparan sulfate (HS) and chondroitin/dermatan sulfate (CS/DS) proteoglycans are glycosylated proteins with important roles in animal development and homeostasis. HS and CS/DS are long, linear glycosaminoglycan (GAG) polysaccharides and attached to a core protein they form proteoglycans. READ MORE