Sökning: "Allele-specific expression"

Visar resultat 1 - 5 av 43 avhandlingar innehållade orden Allele-specific expression.

1. 1. Gene Expression in Cancer Cells : Detection of Splice Variants, Allele-specific Expression and DNA Methylation

   Författare :Lili Milani; Ann-Christine Syvänen; Thomas R. Gingeras; Uppsala universitet; []
   Nyckelord :;

   Sammanfattning : The human genome sequencing project has provided a wealth of information on sequence variation between individuals. The surprisingly low number of genes in the human genome is compensated for by a complex regulation of gene expression. LÄS MER

3. 2. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

   Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

   Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER

4. 3. Gene Expression and DNA Methylation in Acute Lymphoblastic Leukemia

   Författare :Jessica Nordlund; Syvänen Ann-Christine; Xavier Estivill; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Digital gene expression; Allele-specific gene expression; DNA methylation; Epigenetics; Acute lymphoblastic leukemia; Molekylär medicin; Molecular Medicine;

   Sammanfattning : Pediatric acute lymphoblastic leukemia (ALL) is the most common malignancy in children, which results from the malignant transformation of progenitor cells in the bone marrow into leukemic cells. The precise mechanisms for this transformation are not well defined, however recent studies suggest that aberrant regulation of gene expression or DNA methylation may play an important role. LÄS MER

5. 4. Gene regulatory evolution in flycatchers: statistical approaches for the analysis of allele-specific expression

   Författare :Mi Wang; Hans Ellegren; Christopher Wheat; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ASE; gene expression evolution; bayesian; RPASE; flycatcher.; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

   Sammanfattning : Understanding the molecular mechanisms underlying evolutionary changes in gene expression is a major research topic in biology. While a powerful approach to study this is the analysis of allele-specific expression (ASE), most of previously published methods can only be applied to lab organisms. LÄS MER

7. 5. Genetic and Genomic Analysis of DNA Sequence Variation

   Författare :Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

   Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER