Sökning: "Copy number changes"

Visar resultat 6 - 10 av 72 avhandlingar innehållade orden Copy number changes.

1. 6. Array-based Genomic and Epigenomic Studies in Healthy Individuals and Endocrine Tumours

   Författare :Johanna Sandgren; Gunnar Westin; Teresita Diaz de Ståhl; Göran Åkerström; Ola Hessman; Winand Dinjens; Uppsala universitet; []
   Nyckelord :genome; copy number variants; cancer; Pheochromocytoma; epigenome; array-CGH; ChIP-chip; gene expression; tumour suppressor genes; oncogenes; MEDICINE; MEDICIN; Kirurgi; Surgery;

   Sammanfattning : The human genome is a dynamic structure, recently recognized to present with significant large-scale structural variation. DNA-copy number changes represent one common type of such variation and is found both between individuals and within the somatic cells of the same individual, especially in disease states like cancer. LÄS MER

3. 7. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

   Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

   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

4. 8. Physiology of Saccharomyces cerevisiae Producing Recombinant Insulin in Continuous Culture

   Författare :Ali Kazemi Seresht; Chalmers tekniska högskola; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; unfolded protein response; Keywords: heterologous protein production; prolonged chemostat; transcriptome; insulin analogue precursor; metabolic adaptation; URA3d; plasmid copy number; promoter truncation; high cell density cultivation; TPI1;

   Sammanfattning : The yeast Saccharomyces cerevisiae has widely been used as a host for the production of heterologous proteins. High-level production of heterologous proteins is likely to impose a metabolic burden on the host cell and can thus affect various aspects of cellular physiology. LÄS MER

5. 9. Genomic changes defining the progression of human colorectal and cervical tumors

   Författare :Kerstin Heselmeyer; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :colorectal; cervical; anal neoplasias proliferation; DNA ploidy; p53 and p21WAF1 expression; HPV; CGH;

   Sammanfattning : Defining changes during the carcinogenesis and progression of tumors is a major way to obtain a better understanding of the mechanisms of cancer development. We therefore investigated the carcinogenesis process in the colon-rectum and in the uterine cervix by different cell chemical, immunohistochemical and cytogenetic methods. LÄS MER

7. 10. Bioinformatic analysis of whole genome sequencing data : detection of selective sweeps and structural changes

   Författare :Khurram Maqbool; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

   Sammanfattning : Evolution has shaped the life forms for billion of years. Domestication is an accelerated process that can be used as a model for evolutionary changes. The aim of this thesis project has been to carry out extensive bioinformatic analyses of whole genome sequencing data to reveal SNPs, InDels and selective sweeps in the chicken, pig and dog genome. LÄS MER