Sökning: "QKI"

Hittade 4 avhandlingar innehållade ordet QKI.

  1. 1. Functional studies of the Quaking gene : Focus on astroglia and neurodevelopment

    Författare :Katarzyna Radomska; Elena Jazin; Pertti Panula; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; QKI; RNA-binding protein; astrocyte; interferon; GFAP; neurodevelopment; zebrafish; neural progenitor cell;

    Sammanfattning : The RNA-binding protein Quaking (QKI) plays a fundamental role in post-transcriptional gene regulation during mammalian nervous system development. QKI is well known for advancing oligodendroglia differentiation and myelination, however, its functions in astrocytes and embryonic central nervous system (CNS) development remain poorly understood. LÄS MER

  3. 2. Translational research of the quaking gene : Focusing on the conjunction between development and disease

    Författare :Bryn Farnsworth; Lina Emilsson; Roman Chrast; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; QKI; glia; oligodendrocyte; Alzheimer s; schizophrenia; zebrafish; statistics; morpholino; Biologi med inriktning mot evolutionär organismbiologi; Biology with specialization in Evolutionary Organismal Biology;

    Sammanfattning : Quaking (QKI) is an RNA binding protein involved in the post-transcriptional regulation of gene expression. Originally identified as the cause of hypomyelination in a mouse mutant, it has since been consistently implicated in a wide range of neurological diseases. LÄS MER

  4. 3. Finding Genes for Schizophrenia

    Författare :Karolina Åberg; Elena Jazin; Eva Lindholm; Eric Sobel; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; psychiatric genetics; QKI; large pedigree; haplotype investigation; mRNAexpression; genetic linkage; myelin; HTR2C; Biology; Biologi;

    Sammanfattning : Schizophrenia is one of our most common psychiatric diseases. It severely affects all aspects of psychological functions and results in loss of contact with reality. No cure exists and the treatments available today produce only partial relief for disease symptoms. LÄS MER

  5. 4. Sequence based analysis of neurodevelopmental disorders

    Författare :Jonatan Halvardson; Lars Feuk; Alexandre Reymond; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical Genetics; Medicinsk genetik;

    Sammanfattning : In this thesis the main focus is the use of methods and applications of next generation sequencing in order to study three of the most common neurodevelopmental disorders: intellectual disability, epilepsy and schizophrenia. A large fraction of the genes in our genome produce several distinct transcript isoforms through the process of splicing and there is an increasing amount of evidence pinpointing mutations affecting splicing as a mechanism of disease. LÄS MER