Sökning: "Somatic Mosaicism"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Somatic Mosaicism.

  1. 1. Somatic Genetic Variation in Children: from Mosaicism to Cancer

    Författare :Anders Valind; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic Mosaicism; Cancer; Tumor heterogeneity; Neuroblastoma; Wilms Tumor; Rhabdomyosarcoma; Aneuploidy;

    Sammanfattning : This thesis concerns various aspects of somatic mosaicism and genetic intratumor heterogeneity in childhood cancer.In paper I, I show that aneuploidy in itself does not lead to the level of chromosomal instability that is typically seen in malignant cells. This finding strongly argues against the so called autocatalytic theory of carcinogenesis. LÄS MER

  3. 2. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

    Författare :Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

    Sammanfattning : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. LÄS MER

  4. 3. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Författare :Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Sammanfattning : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. LÄS MER

  5. 4. Array-based Genomic and Epigenomic Studies in Healthy Individuals and Endocrine Tumours

    Författare :Johanna Sandgren; Gunnar Westin; Teresita Diaz de Ståhl; Göran Åkerström; Ola Hessman; Winand Dinjens; Uppsala universitet; []
    Nyckelord :genome; copy number variants; cancer; Pheochromocytoma; epigenome; array-CGH; ChIP-chip; gene expression; tumour suppressor genes; oncogenes; MEDICINE; MEDICIN; Kirurgi; Surgery;

    Sammanfattning : The human genome is a dynamic structure, recently recognized to present with significant large-scale structural variation. DNA-copy number changes represent one common type of such variation and is found both between individuals and within the somatic cells of the same individual, especially in disease states like cancer. LÄS MER

  7. 5. Multiple sclerosis : from genetic variants to biomarkers

    Författare :Sahl Khalid Bedri; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Multiple sclerosis (MS) is a common chronic autoimmune and neurodegenerative disease of the central nervous system (CNS). MS is a debilitating disease that affects young adults, especially females. Why we develop MS? Is thought to be a consequence of our genes and the environment. LÄS MER