Sökning: "Klinisk genetik"

Visar resultat 6 - 10 av 434 avhandlingar innehållade orden Klinisk genetik.

  1. 6. In Vitro Drug Sensitivity and Apoptosis in Chronic Lymphocytic Leukemia

    Författare :Maria Norberg; Richard Rosenquist; Anna Åleskog; Elin Lindhagen; Gerard Tobin; Per-Ola Andersson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; in vitro drug sensitivity; apoptosis; prognostic markers; Clinical genetics; Klinisk genetik; Haematology; Hematologi; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; MEDICINE; MEDICIN; Medical genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap; Clinical Genetics; Klinisk genetik; Molekylär genetik; Molecular Genetics; Medical Genetics; Medicinsk genetik; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Chronic lymphocytic leukemia (CLL) is a heterogeneous malignancy displaying varying clinical outcome, where molecular markers today can divide patients into prognostic subgroups. Despite the introduction of new agents for treatment, remissions are usually not sustained in CLL and resistance towards treatment can partly be explained by aberrant apoptosis. LÄS MER

  3. 7. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER

  4. 8. Growth control mechanisms in normal and neoplastic mammalian cells

    Författare :Mozhgan Afrakhte; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PDGF-AA; TGF-beta; Inhibitory SMADs; Growth inhibition; CDK; CKI; Cdc25A; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Sammanfattning : The main theme of the studies presented in this thesis is, the growth control mechanisms whose loss in normal cells predispose to or cause cancer. The balance between growth inhibitory and stimulatory mechanisms is crucial for the development and maintenance of a normal animal. LÄS MER

  5. 9. Expression of TGF- isoforms, their receptors and related SMAD proteins in brain pathology : Immunohistochemical studies focusing on infarcts, abscesses and malignant gliomas

    Författare :Ahmad Khaled Ata; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; TGF-beta receptor; SMAD; brain; infarct; abscess; glioma; experimental; human; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Sammanfattning : This thesis focuses on the immunohistochemical expression of transforming growth factor beta(TGFβ) isoforms, their receptors and TGF-β-related SMAD proteins in brain pathology, chiefly in-farcts. One key question was whether the expressions of these compounds are altered within glial cells, endothelial cells of microvessels and other cell types in the vicinity of infarcts. LÄS MER

  7. 10. Analysis of the Gene and Protein Causing Best Macular Dystrophy

    Författare :Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER