Sökning: "MECP2 gene"

Hittade 5 avhandlingar innehållade orden MECP2 gene.

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

    Författare :Anna Erlandson; Göteborgs universitet; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : 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. LÄS MER

  3. 2. Downstream effects of master regulators in two brain diseases

    Författare :Sebastian Braun; Stamcellscentrum (SCC); []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

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

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : 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. LÄS MER

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

    Författare :Morana Vitezic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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 important insights into overall gene regulation of a cell as well as the impact of dysregulation in diseases. LÄS MER

  7. 5. Nuclear compartmentalization of viral and cellular proteins involved in gamma-herpes virus (EBV and HHV-8) mediated cellular transformation

    Författare :Karin Mattsson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :EBV; HHV-8; latency; PML nuclear body; fluorescence microscopy;

    Sammanfattning : The aim of the work described in this thesis has been to characterize the nuclear compartmentalization of cellular and viral proteins involved in EBV or HHV-8 mediated cellular transformation. We have studied the EBV encoded EBNA-5 and its association with the PML nuclear bodies (NBs) and nuclear inclusions. LÄS MER