Search for dissertations about: "Nonsense"

Showing result 1 - 5 of 43 swedish dissertations containing the word Nonsense.

  1. 1. Making sense from nonsense and missense : pharmacological rescue of mutant tumor suppressor p53

    Author : Meiqiongzi Zhang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : A large fraction of human tumors carry inactivating mutations in the TP53 tumor suppressor gene. Approximately 75% of these mutations are missense mutations and around 10% are nonsense mutations. TP53 inactivation allows evasion of cell death and rapid tumor progression. READ MORE

  2. 2. Molecular Mechanisms of Frontotemporal Lobar Degeneration

    Author : Lena Skoglund; Anna Glaser; Martin Ingelsson; Lars Lannfelt; Stuart Pickering-Brown; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Frontotemporal lobar degeneration; Frontotemporal dementia; Tau; Progranulin; Alternative splicing; Nonsense-mediated decay; Haploinsufficiency;

    Abstract : The aim of this thesis was to identify genetic factors involved in frontotemporal lobar degeneration (FTLD), a neurodegenerative disorder clinically characterised by a progressive change in personality, behaviour and language. FTLD is a genetically complex disorder and a positive family history is found in up to 40% of the cases. READ MORE

  3. 3. Studies of translation in E. coli

    Author : Margareta Faxén; Stockholms universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES;

    Abstract : A cis-acting translational mutation in the beginning of the glnS gene was analyzed; this mutation creates a extra base pair to a proposed extended ribosome binding site. When increasing the complementarity to this extended ribosome binding site, it was demonstrated that the expression increased; correspondingly, when complementarity was decreasd the expression went down. READ MORE

  4. 4. Factors modulating tRNA biogenesis and function in Saccharomyces cerevisiae

    Author : Fu Xu; Anders Byström; Marcus J. O. Johansson; Raffael Schaffrath; Umeå universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; Translation; tRNA biogenesis; suppressor tRNA; Elongator complex; wobble uridine modifications; SUP4; YPK9; SSD1; serine tRNA; synthetic lethality; yeast; biology; biologi; molekylärbiologi; Molecular Biology; Genetics; genetik;

    Abstract : Transfer RNA (tRNA) genes are transcribed by RNA polymerase III as precursors that undergo multiple processing steps to form mature tRNAs. These steps include processing of the 5’ leader and 3’ trailer sequences, addition of a 3’ CCA tail, removal of introns, and formation of modified nucleosides. READ MORE

  5. 5. Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1

    Author : Oskar Thor Johannsson; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; survival analysis; CGH; mRNA in situ hybridization; germline mutations; LOH; Breast neoplasm; BRCA1; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

    Abstract : The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. READ MORE