Sökning: "chromosomal alterations"

Visar resultat 21 - 25 av 81 avhandlingar innehållade orden chromosomal alterations.

  1. 21. Molecular Interrogation and Functional Studies of Acute Leukemia

    Författare :Axel Hyrenius Wittsten; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute leukemia; KMT2A; Cooperating Lesions; Clonal Relationship; Genomic Profiling; Fusion Genes;

    Sammanfattning : Hematological malignancies are defined by their underlying genetic alterations, many of which are used to diagnose patients to classify them to different risk groups that dictate the therapy given. Recent advances in high-throughput sequencing have highlighted the presence of co-occurring genetic lesions and that they may form distinct genetic clones that evolve throughout disease progression. LÄS MER

  3. 22. Horizontal gene transfer by uptake of apoptotic bodies

    Författare :Anna Bergsmedh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Horizontal gene transfer; genomic instability; apoptosis; phagocytosis;

    Sammanfattning : In adults as well as during embryogenesis, apoptosis plays a key role in the elimination of cells in multicellular organisms. Apoptosis is important for the maintenance of tissue homeostasis. It is also of importance in tumor development, where tumor cells die by apoptosis due to low levels of oxygen and nutrients. LÄS MER

  4. 23. Genetic characterization of hematological malignancies with focus on mantle cell lymphoma

    Författare :Emma Flordal Thelander; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Lymphoid cancer affects about 2000 individuals in Sweden every year. Lymphoma is divided into numerous subclasses based on histopathological and phenotypic characterization, however, for some lymphoma entities, the classification criteria are insufficient and clinical diversity is seen in cases of the same diagnosis. LÄS MER

  5. 24. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

    Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER

  7. 25. Ultrasensitive Molecular Monitoring of Breast Cancer and Acute Myeloid Leukemia

    Författare :Yilun Chen; Translational Oncogenomics; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; AML; PTEN; PI3K; Liquid biopsy; Sequencing; cfDNA; ctDNA; Structural variants; Mammography; CTC; Mutation detection; IBSAFE; MRD;

    Sammanfattning : Cancer is the common name to a group of biologically diverse malignant neoplastic diseases. Approximately 18 million people are diagnosed with cancer annually and 8.8 million patients die from it. Tumorigenesis and progression of cancer are driven by alterations in the cancer cell genome. LÄS MER