Sökning: "methylation array"

Visar resultat 1 - 5 av 25 avhandlingar innehållade orden methylation array.

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis Uppsala

    Författare :Millaray Marincevic; Uppsala universitet.; [2010]
    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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Nicola Cahill; Uppsala universitet.; [2012]
    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

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Alberto Delgado Verdugo; Uppsala universitet.; [2014]
    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

  4. 4. DNA methylation in the placenta and in cancerwith special reference to folate transporting genes

    Detta är en avhandling från Örebro : Örebro university

    Författare :Sanja Farkas; Örebro universitet.; [2014]
    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

  5. 5. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Caisa Marie Hansson; Uppsala universitet.; [2006]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; NATURAL SCIENCES Biology Cell and molecular biology Molecular biology; NATURVETENSKAP Biologi Cell- och molekylärbiologi Molekylärbiologi;

    Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. LÄS MER