Sökning: "Loss of chromosome Y"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Loss of chromosome Y.

  1. 1. 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

  3. 2. The role of hematopoietic chromosome Y loss in health and disease

    Författare :Jonas Mattisson; Lars A. Forsberg; Jonatan Halvardson; Adam Ameur; Andrea Ganna; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; loss of chromosome Y; LOY; mosaic loss of chromosome Y; mLOY;

    Sammanfattning : Mosaic loss of chromosome Y (mLOY) is the most common somatic mutation, and affected men have increased risk for all major causes of death, including cardiovascular diseases and cancer. As a male specific mutation, it helps explain why men live shorter lives than women. LÄS MER

  4. 3. Population Genetics of Human Genomic Elements

    Författare :Thijessen Naidoo; Mattias Jakobsson; Guillaume Achaz; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; population genetics; human genome; functional elements; natural selection; pseudogenes; loss-of-function; gene regulation; Y chromosome; Biology with Specialisation in Human Evolution and Genetics; Biologi med inriktning mot människans evolution och genetik;

    Sammanfattning : The genomes of living organisms are composed of a multitude of functional units, which interact with each other and their environment in a highly regulated fashion, to facilitate the expression of an enduring (and evolving) phenotype. Several approaches have emerged in the effort to identify these functional units and explore their activities. LÄS MER

  5. 4. Biomarkers In Brain Tumors With Focus On Glioblastoma

    Författare :Malgorzata Lysiak; Peter Söderkvist; Annika Malmström; Olle Stål; Mattias Belting; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioblastoma; MGMT; Biomarker; Sex differences; Androgen receptor; Loss of chromosome Y;

    Sammanfattning : The primary brain tumors, gliomas, are not very common but they are deadly. Each year in Sweden around 500 patients will be diagnosed with a glioma and unfortunately most of them will have the most aggressive type, glioblastoma (GBM). Median survival, even if treated, is poor (14-17 months). LÄS MER

  7. 5. Genetic analyses of multiple myeloma and related plasma cell dyscrasias

    Författare :Therese Nilsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; FISH; cytogenetic; multiple myeloma; MGUS;

    Sammanfattning : Acquired genetic changes have proved to be of diagnostic and prognostic importance in different hematologic malignancies as well as in some solid tumor types. However, although multiple myeloma (MM), an incurable disease, and its proceeding stage monoclonal gammopathy of undetermined significance (MGUS) are quite common, little is known about the karyotypic features of these plasma cell dyscrasias. LÄS MER