Search for dissertations about: "monogenic"
Showing result 1 - 5 of 41 swedish dissertations containing the word monogenic.
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1. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy
Abstract : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. READ MORE
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2. Genetic and Molecular Studies of Two Hereditary Skin Disorders
Abstract : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. READ MORE
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3. Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits
Abstract : Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to identify structural variants and associate them with phenotypic outcomes. READ MORE
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4. Linkage analysis as a tool to study monogenic and complex disorders
Abstract : .... READ MORE
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5. Genetic causes and underlying disease mechanisms in early-onset osteoporosis
Abstract : Adult-onset osteoporosis is a disorder that affects a significant proportion of the elderly population worldwide and entails a substantial disease burden for the affected individuals. Childhood-onset osteoporosis is a rare condition often associating with a severe bone disease and recurrent fractures already in early childhood. READ MORE