Search for dissertations about: "repeat expansion"

Showing result 1 - 5 of 31 swedish dissertations containing the words repeat expansion.

2. 1. Myotonic dystrophy type 1. Cognition, personality and emotion

   Author : Stefan Winblad; Göteborgs universitet; []
   Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Myotonic dystrophy; CTG-repeat; expansion; personality; facial emotion recognition ability; neuropsychology; Tau;

   Abstract : kommer senare.... READ MORE

4. 2. Variation in length of proteins by repeats and disorder regions

   Author : Rauan Sagit; Arne Elofsson; Andrey Kajava; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; protein length; repeats; domain repeats; protein evolution; duplication; tandem duplication; intrinsic disorder; intrinsically disordered; variation in length; insertion; deletion; recombination; expansion; contraction; Biochemistry; biokemi;

   Abstract : Protein-coding genes evolve together with their genome and acquire changes, some of which affect the length of their protein products. This explains why equivalent proteins from different species can exhibit length differences. READ MORE

5. 3. Targeted Long-read Sequencing : Development and Applications in Medical Genetics

   Author : Ida Höijer; Ulf B. Gyllensten; Adam Ameur; Lars Feuk; Winston Timp; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; long-read sequencing; targeted sequencing; targeted enrichment; CRISPR-Cas9; off-targets; medical genetics; repeat expansion; structural variant;

   Abstract : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. READ MORE

6. 4. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

   Author : Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. READ MORE

7. 5. Personality and facial emotion recognition ability in myotonic dystrophy type 1

   Author : Stefan Winblad; Göteborgs universitet; []
   Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Myotonic dystrophy; CTG-repeat expansion; personality; facial emotion; recognition ability; neuropsychology;

   Abstract : .... READ MORE