Sökning: "chromosome model"

Visar resultat 16 - 20 av 188 avhandlingar innehållade orden chromosome model.

  1. 16. Molecular Genetic Studies of Ph-positive Leukemias and the BCR and ABL Genes

    Författare :Thoas Fioretos; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CRKL; CRK; ABL; BCR; acute lymphoid leukemia; chronic myeloid leukemia; Philadelphia chromosome; Molecular Genetics; Cytogenetics; IFN-alfa; Haematology; extracellular fluids; Hematologi; extracellulära vätskor;

    Sammanfattning : In the present thesis molecular genetic methods were used to address different biological and clinical aspects of Philadelphia (Ph) chromosome-positive leukemias and the BCR and ABL genes. In the first study, children with Ph-positive chronic myeloid leukemia (CML) were found to have essentially the same breakpoint locations in BCR as adults, a pattern which differs from the one seen in Ph-positive acute lymphoid leukemia (ALL). LÄS MER

  3. 17. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Författare :Peter Gustavsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. LÄS MER

  4. 18. On the Evolution of the Avian Transcriptome

    Författare :Severin Uebbing; Hans Ellegren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; evolution; gene expression; regulation; RNA-seq; transcriptomics; proteomics; sex chromosome; dosage compensation; divergence; ASE; birds; Ficedula; flycatcher; chicken; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : Change in gene expression is a powerful tool for evolution, because seemingly small expression changes can contribute important steps towards adaptation without necessarily affecting the whole organism. There is still much to learn about how gene expression evolves on genome- and population-wide levels, especially in non-model organisms. LÄS MER

  5. 19. The mouse oocyte as a model in reproductive toxicology studies

    Författare :Jinwen Zhang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : It is suspected that certain chemicals may cause alterations in female reproduction, including ovarian failure and birth defects. Sub-fecundity, infertility, pregnancy loss, fetal growth retardation, and birth defects are consequences proposed to occur. LÄS MER

  7. 20. Dendritic cell presentation of type II collagen

    Författare :Meirav Holmdahl; Lund Dermatologi och venereologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicin människa och djur ; Medicine human and vertebrates ; chromosome 2; arthritis; proteases; antigen presentation; Dendritic cell; type II collagen;

    Sammanfattning : Type II collagen (CII) is the main protein component of cartilage and immune recognition of CII plays a critical role for the development of collagen induced arthritis (CIA), a widely used animal model for rheumatoid arthritis (RA). Antigen presentation is an important requirement for the immune response, the more efficient presentation of the antigen the better tolerance will be induced and thereby protect against arthritis. LÄS MER