Sökning: "11q."

Visar resultat 16 - 20 av 26 avhandlingar innehållade ordet 11q..

  1. 16. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway

    Författare :Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. LÄS MER

  3. 17. Recurrent Genetic Mutations in Lymphoid Malignancies

    Författare :Emma Young; Richard Rosenquist; Larry Mansouri; Lesley Ann Sutton; Dimitar Efremov; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; mutations; CLL; stereotypy; subsets; PMBL; NFKBIE; EGR2; whole-genome sequencing; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

    Sammanfattning : In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). LÄS MER

  4. 18. 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

  5. 19. 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

  7. 20. Investigating ALK inhibitors alone or in combination as therapeutic options for ALK-positive neuroblastoma

    Författare :Muhammad Wasi Alam; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroblastoma; Oncology; Anaplastic lymphoma kinase ALK ; Dihydroorotate Dehydrogenase DHODH ;

    Sammanfattning : Neuroblastoma (NBL) is the third most common pediatric cancer after leukemia and cranial tumours and accounts for around 15% of death in pediatric malignancy. NBL develops due to the poorly differentiated progenitor cells of the sympathetic nervous system. LÄS MER