Search for dissertations about: "CpG methylation"

Showing result 1 - 5 of 68 swedish dissertations containing the words CpG methylation.

  2. 1. Prognostic markers and DNA methylation profiling in lymphoid malignancies

    Author : Sujata Bhoi; Richard Rosenquist Brandell; H Denis Alexander; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; CLL; MCL; prognostic markers; micro-RNA; methylation; stereotyped subsets;

    Abstract : In recent years, great progress has been achieved towards identifying novel biomarkers in lymphoid malignancies, including chronic lymphocytic leukemia (CLL) and mantle cell lymphoma (MCL), at the genomic, transcriptomic and epigenomic level for accurate risk-stratification and prediction of treatment response. In paper I, we validated the prognostic relevance of a recently proposed RNA-based marker in CLL, UGT2B17, and analyzed its expression levels in 253 early-stage patients. READ MORE

  4. 2. Epigenetic dysregulation in relation to psychiatric traits in adolescence and adulthood

    Author : Adrian Desai Boström; Helgi B. Schiöth; Daniel Nätt; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; methylome-wide; DNA methylation; hypersexual disorder; microRNA; oxytocin signaling; psychiatry; hsa-miR-4456; microRNA-4456; MIR4456; epigenetic dysregulation; microRNA expression; gene target prediction; epigenetics; suicide; suicide attempt; HPA axis; CRH gene; Epigenetics; Methylation; Adolescent depression; MIR4646; methylome-wide association study; Omega-3; mQTL analysis; GAD1; HDAC3; DAWBA;

    Abstract : Epigenetics has evolved into a key research focus in the field of psychiatry. DNA methylation is the most researched epigenetic mechanism. In paper I-III, 130 and 93 adolescents were randomly recruited at two separate intervals. READ MORE

  5. 3. Meiotic Recombination in Human and Dog : Targets, Consequences and Implications for Genome Evolution

    Author : Jonas Berglund; Matthew Webster; Kerstin Lindblad-Toh; Leif Andersson; Nadia Singh; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; recombination; biased gene conversion; CpG island; copy number variation; substitutions; methylation; Bioinformatics; Bioinformatik; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution; Molekylär genetik; Molecular Genetics;

    Abstract : Understanding the mechanism of recombination has important implications for genome evolution and genomic variability. The work presented in this thesis studies the properties of recombination by investigating the effects it has on genome evolution in humans and dogs. READ MORE

  6. 4. Genetic Aspects of Endocrine Tumorigenesis : A Hunt for the Endocrine Neoplasia Gene

    Author : Alberto Delgado Verdugo; Peyman Björklund; gunnar westin; Per Hellman; Filip Farnebo; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Exome sequencing; SDHAF2; epigenetics; methylation; methylation array; Sanger sequencing; pheochromocytoma; SI-NETs; carcinoid; oncology; endocrine surgery; parathyroid; Genetics; Genetik; Kirurgi; Surgery;

    Abstract : Endocrine tumors arise from endocrine glands. Most endocrine tumors are benign but malignant variants exist. Several endocrine neoplasms display loss of parts of chromosome 11 or 18, produce hormones and responds poorly to conventional chemotherapeutics. The multiple endocrine neoplasia syndromes are mainly confined to endocrine tumors. READ MORE

  7. 5. Predictors of Alcohol Misuse : Role of MAOA Genotype, Methylation, Transcription, and Negative and Positive Environmental factors

    Author : Megha Bendre; Kent Nilsson; Erika Comasco; Ingrid Nylander; Mia Ericson; Uppsala universitet; []
    Keywords : Alcohol; AUD; MAOA; methylation; expression; early-life stress; maltreatment; parent–child relationship; gene–environment interactions.; Medicinsk vetenskap; Medical Science;

    Abstract : Alcohol misuse is a risk factor for alcohol use disorder (AUD). Gene-environment interactions contribute to the risk or resilience for AUD. A functional polymorphism in the promoter of the monoamine oxidase A gene (MAOA-uVNTR), in interaction with negative environment (Eneg), is associated with alcohol misuse and AUD. READ MORE