Sökning: "molecular genetics"
Visar resultat 1 - 5 av 510 avhandlingar innehållade orden molecular genetics.
1. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia
Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER
2. Application of Genomic and Expression Arrays for Identification of new Cancer Genes
Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER
3. Functional organisation of the cell nucleus in the fission yeast, Schizosaccharomyces pombe
Sammanfattning : In eukaryotes the genome adopts a non-random spatial organisation, which is important for gene regulation. However, very little is known about the driving forces behind nuclear organisation. LÄS MER
4. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders
Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER
5. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry
Sammanfattning : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. LÄS MER