Sökning: "Ann-Charlotte Thuresson"

Hittade 2 avhandlingar innehållade orden Ann-Charlotte Thuresson.

  1. 1. Regulation of Mammalian Poly(A) Polymerase Activity

    Författare :Ann-Charlotte Thuresson; Barklie Clements; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biomedicine; poly A polymerase; PAP; polyadenylation; isoforms; phosphorylation; alternative splicing; CPSF interaction; aminoglycosides; Biomedicin; Microbiology; Mikrobiologi; Molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Poly(A) polymerase (PAP) is the enzyme catalyzing the synthesis of the adenine tail to the 3’-end of mRNA. This A-tail is present on the majority of the primary RNA transcripts of protein-coding genes, and is important for mRNA stability, export to the cytoplasm and translation. Therefore, PAP is a key regulator of eukaryotic gene expression. LÄS MER

  3. 2. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

    Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER