Sökning: "transcript analysis"

Visar resultat 6 - 10 av 151 avhandlingar innehållade orden transcript analysis.

1. 6. Systems Biology in Saccharomyces cerevisiae. Statistical data analysis and mathematical methods

   Författare :Roberto Olivares Hernandez; Chalmers tekniska högskola; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Transcriptome; Systems Biology; Proteome; Integrative Analysis; Fluxome;

   Sammanfattning : Over the last decade, Systems Biology has emerged as a new paradigm in the study of cellular systems which are characterized from a global perspective; in contrast to the traditional cellular biology, which was focused on specific components of the cell. To this end, a key milestone for the achievement of a global view of biology is the generation and interpretation of different datasets derived from omics technologies; such as Transcriptome and Proteome. LÄS MER

3. 7. In situ Sequencing : Methods for spatially-resolved transcriptome analysis

   Författare :Marco Mignardi; Mats Nilsson; Xiaoliang Sunney Xie; Stockholms universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Padlock probes; rolling circle amplification; in situ sequencing; spatially-resolved transcriptomics; molecular diagnostics; Biochemistry; biokemi;

   Sammanfattning : It is well known that cells in tissues display a large heterogeneity in gene expression due to differences in cell lineage origin and variation in the local environment at different sites in the tissue, a heterogeneity that is difficult to study by analyzing bulk RNA extracts from tissue. Recently, genome-wide transcriptome analysis technologies have enabled the analysis of this variation with single-cell resolution. LÄS MER

4. 8. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

   Författare :Christina Hellerud; Göteborgs universitet; []
   Nyckelord :contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

   Sammanfattning : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. LÄS MER

5. 9. 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

7. 10. Analysis of kidney glomerular and microvascular transcriptomes

   Författare :Liqun He; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Transcriptome; kidney glomerulus; pericytes; EST; microarray; genomics; bioinformatics; systems biology;

   Sammanfattning : Kidney glomeruli play a crucial role in the maintenance of body homeostasis. Many diseases attack the kidney function by primarily affecting glomeruli. However, the transcriptome profiles and the function of the glomerulus is poorly understood. LÄS MER