Search for dissertations about: "MECP2"

Showing result 1 - 5 of 6 swedish dissertations containing the word MECP2.

  1. 1. Genetic studies of children with mental retardation

    Author : Saideh Rajaei; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    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

  2. 2. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Author : Anna Erlandson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Abstract : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. READ MORE

  3. 3. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Author : Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Abstract : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. READ MORE

  4. 4. Downstream effects of master regulators in two brain diseases

    Author : Sebastian Braun; Stamcellscentrum (SCC); []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; brain tumor development; gene regulation; neural stem cells; cell of origin; BMI1;

    Abstract : In paper one, we investigated how the pharmacological activation and inhibition of the glucocorticoid system affects lifespan and symptoms in a mouse model for RTT. We performed a long-term drug treatment study with the GR activator corticosterone and the GR inhibitor RU486 under which we measured the lifespan and onset of RTT-like symptoms of male Mecp2-null and female Mecp2 heterozygous mice in comparison to untreated mutant and to treated and untreated wild-type animals. READ MORE

  5. 5. Inferring transcriptional regulation on the promoter level and its applications to diseases

    Author : Morana Vitezic; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Gene regulation is important in maintaining cell identity and in higher organisms is a very complex process with many layers of regulation. Genome - wide transcriptional studies that define gene expression across different cells and tissues give imp ortant insights into overall gene regulation of a cell as well as the impact of dysregulation in diseases. READ MORE