Search for dissertations about: "CNV"

Showing result 1 - 5 of 24 swedish dissertations containing the word CNV.

  1. 1. The human pancreatic polypeptide receptor Y4 Genetic and functional variation

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Kateryna Shebanits; Uppsala universitet.; [2018]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NPY4R; Y4; obesity; CNV; Medicinsk vetenskap; Medical Science;

    Abstract : Humans are evolutionarily adapted to an environment where food is scarce, but today many live in a world of food abundance. Paired with low physical activity, this may lead to weight gain and obesity. Efficient anti-obesity treatments require understanding of the mechanisms that control hunger, satiety, energy metabolism and body weight. READ MORE

  2. 2. The Human Y chromosome and its role in the developing male nervous system

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Martin M. Johansson; Uppsala universitet.; [2015]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MSY; sex differences; CNV; SNP; palindrome; palindromes; gr gr duplication; gr gr deletion; b2 b3 deletion; b2 b3 duplication; blue-grey duplication; blue-grey like duplication; IR2; U3; STS; AZFa; AZFb; AZFc; Olivary nucleus; Medulla oblongata; spinal cord; white matter; Affymetrix 6.0; embryo; embryonal; haplogroup; haplogroups; R1a; R1b; R-M207; E-M96; I-M170; J-M304; G-M201; Ashkenazi; Bolivian; Chinese; SNP array; padlock probing; AMY-tree; Biologi med inriktning mot zoologisk utvecklingsbiologi; Biology with specialization in Animal Development;

    Abstract : Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. READ MORE

  3. 3. Genetic studies of children with mental retardation

    University dissertation from Göteborg : University of Gothenburg

    Author : Saideh Rajaei; Göteborgs universitet.; Gothenburg University.; [2013]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Abstract : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. READ MORE

  4. 4. Choroidal neovascularization (CNV) : Clinical and experimental aspects

    University dissertation from Stockholm : Karolinska Institutet, -

    Author : Lennart Berglin; Karolinska Institutet.; Karolinska Institutet.; [2002]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CNV; angiogenesis; age-related macular degeneration; AMD; aging; surgery; endothelial cells; VEGF; MMP; TIMP; MMP-2; immunohistochemistry; ECM; RPE; Bruch s membrane; wound healing; inflammation; macrophages; in-situ hybridization; mRNA; immature vessels; MMP-9; TIMP- 3; MMP-2 deficiency;

    Abstract : This work comprises different aspects of choroidal neovacularization (CNV); a leading cause of visual loss in the aged. It is an example of angiogenesis and a complication of age-related macular degeneration (AMD) The purpose was to study if patient age influences outcome of CNV surgery, to characterize the cellular content of CNV, to analyze the expression of vascular endothelial growth factor (VEGF) and various matrix metalloproteinases (MMP) and their inhibitors (TIMP) in CNV and to study if MMP-2 influences experimental CNV growth. READ MORE

  5. 5. Methods and applications in DNA sequence alignments

    University dissertation from Stockholm : Karolinska Institutet, Department of Cell and Molecular Biology

    Author : Ellen Sherwood; Karolinska Institutet.; Karolinska Institutet.; [2007]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA sequence alignment; CNV; Chicken; Trypanosoma cruzi.;

    Abstract : DNA sequence alignment is one of the most common bioinformatics tasks. Alignment analysis for eukaryotic genomes is challenging because the datasets are large. Repeat sequences also make the analysis difficult. This thesis describes new methods which we have developed for DNA sequence alignment that address these problems. READ MORE