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Visar resultat 1 - 5 av 29 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Array-based Characterization of Chronic Lymphocytic Leukemia : - with Focus on Subsets Carrying Stereotyped B-cell Receptors

   Författare :Millaray Marincevic; Richard Rosenquist; Andreas Rosenwald; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; array-based characterization; stereotyped B-cell receptors; subsets; antigens; SNP array; gene expression array; methylation array; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

   Sammanfattning : In chronic lymphocytic leukemia (CLL), the presence of multiple subsets expressing ‘stereotyped’ B-cell receptors (BCRs) has implicated antigen(s) in leukemogenesis. These stereotyped subsets display similar immunoglobulin (IG) gene usage, almost identical complementarity determining region 3’s and may share clinical features. LÄS MER

3. 2. Molecular Genetic and DNA Methylation Profiling of Chronic Lymphocytic Leukaemia : A Focus on Divergent Prognostic Subgroups and Subsets

   Författare :Nicola Cahill; Richard Rosenquist; Larry Mansouri; Fergus Ryan; Denis Alexander; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA methylation; Chronic lymphocytic leukemia; SNP; array; IGHV3-21; IGHV4-34; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik; Molecular Biology; Molekylärbiologi; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

   Sammanfattning : Advancements in prognostication have improved the subdivision of chronic lymphocytic leukaemia (CLL) into diverse prognostic subgroups. In CLL, IGHV unmutated and IGHV3-21 genes are associated with a poor-prognosis, conversely, IGHV mutated genes with a favourable outcome. 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. DNA methylation in the placenta and in cancerwith special reference to folate transporting genes

   Författare :Sanja Farkas; Torbjörn Nilsson; Lars Breimer; Warren D. Kruger; Örebro universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA methylation; CRC; placenta; cervix; leukocytes; T-DMRs; folate; array; expression; Biomedicin; Biomedicine;

   Sammanfattning : DNA methylation is an epigenetic mechanism that regulates the gene transcription. Folate is used in cellular synthesis of methyl groups, nucleic acids and amino acids. In complex diseases like cancer and neural tube defects (NTD), various genetic and epigenetic alterations can be found that disrupt the normal cell function. LÄS MER

7. 5. 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