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

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

   Sammanfattning : 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. LÄS MER

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

   Författare :Adrian Desai Boström; Helgi B. Schiöth; Daniel Nätt; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Alberto Delgado Verdugo; Peyman Björklund; gunnar westin; Per Hellman; Filip Farnebo; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER

7. 5. Jack of all trades, master of none : the multifaceted nature of H3K36 methylation

   Författare :Henrik Lindehell; Jan Larsson; Anders Byström; Peter B. Becker; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; H3K36; histone methylation; dosage compensation; chromosome-specific gene regulation; transposable elements; PIWI piRNA biosynthesis; Set2; Ash1; NSD; Histone 3.3; post-translational modifications; histone modifications; epigenetics; proximity ligation assay; Drosophila; Genetics; genetik; molekylärbiologi; Molecular Biology; Biopharmaceutics; biofarmaci;

   Sammanfattning : Post-translational modifications of histones enable differential transcriptional control of the genome between cell types and developmental stages, and in response to environmental factors. The methylation of Histone 3 Lysine 36 (H3K36) is one the most complex and well-studied histone modifications and is known to be involved in a wide range of molecular processes. LÄS MER