Search for dissertations about: "cnv"

Showing result 1 - 5 of 30 swedish dissertations containing the word cnv.

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

    Author : Kateryna Shebanits; Dan Larhammar; Sadaf Farooqi; Uppsala universitet; []
    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

  4. 2. On Neuromagnetic Assessment of the Contingent Negative Variation

    Author : Leif Hultin; Chalmers tekniska högskola; []
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; contingent negative variation; MEG; glial buffering current; iso-field maps; CNV; magnetoencephalography;

    Abstract : The contingent negative variation, CNV, is a cognitive process related to anticipation and motor preparation. In the present work the CNV was studied by the use of magnetoencephalography, MEG. READ MORE

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

    Author : Martin M. Johansson; David Skuse; Uppsala universitet; []
    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

  6. 4. Genetic studies of children with mental retardation

    Author : Saideh Rajaei; Göteborgs universitet; []
    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

  7. 5. Choroidal neovascularization (CNV) : clinical and experimental aspects

    Author : Lennart Berglin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : 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