Sökning: "RET mutation"

Visar resultat 1 - 5 av 12 avhandlingar innehållade orden RET mutation.

  1. 1. Molecular biological techniques as a tool in diagnostic pathology : Applications in B-cell lymphoproliferative disease, medullary thyroid carcinoma and cervical carcinoma

    Författare :Mansour Alemi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PCR-SSCP; MTC; RET mutation; Lymphoma; HPV; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Sammanfattning : Identification of malignancy associated with mutations in gene sequences requires detection ofas little as a single base difference. A powerful technique in mutation detection is polymerasechain reaction (PCR) followed by single-strand conformational polymorphism (SSCP) andsequencing. LÄS MER

  3. 2. Molecular studies of genetic changes in myxoid and round cell liposarcoma

    Författare :Sofia Järnum; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancerology; Cytologi; onkologi; cancer; Medicine human and vertebrates ; Medicin människa och djur ; oncology; Cytology; autocrine loop; RDA; persephin; RET; LEPREL1; translocation; fusion gene; liposarcoma; TLS; CHOP;

    Sammanfattning : Chromosomal translocations commonly result in the production of fusion genes and the fusion genes are often tumor-type specific. In myxoid and round cell liposarcomas (MLS/RCLS), almost 95% of the cases carry a t(12;16)(q13;p11). In the remaining 5% of the MLS/RCLS tumors, another translocation and fusion gene can be found, i.e. LÄS MER

  4. 3. Molecular studies on Hirschsprung disease and 'Ondine's curse'

    Författare :Pär-Johan Svensson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Hirschsprung disease; Congenital Central Hypoventilation Syndrome; neurocristopathy; mutation analysis; RET; CDNF; EDNRB; EDN-3; EDN-I;

    Sammanfattning : This thesis is based on molecular studies of two diseases that arise from dysfunction of, defective migration or inappropriate apoptosis of neural crest derived cells: Hirschsprung disease (HSCR) and "Ondine's curse" (congenital central hypoventilation syndrome, CCHS). The neural crest (NC) is a condensation of pluripotent cells of ectodermal origin. LÄS MER

  5. 4. Molecular genetic studies of human thyroid tumors

    Författare :Tony Frisk; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Follicular thyroid tumors; tumor progression; Cowden disease; PTEN; CGH; RET; medullary thyroid carcinoma; MEN 2; anaplastic carcinoma.;

    Sammanfattning : Tumors of the thyroid gland are common among the general population, but only a small proportion is malignant. The vast majority of thyroid tumors are benign, so called follicular adenomas. Sometimes subtypes such as atypical adenomas and adenomas with oxyphil, i.e. LÄS MER

  7. 5. Glial cell line-derived neurotrophic factor : expression patterns, neuronal transport, regulation, effects, and receptor dependence

    Författare :Andreas C Tomac; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :glial cell line-derived neurotrophic factor GDNF ; neurturin NTN ; persephin PSP ; c Ret proto oncogene Ret ; GPI-linked receptors for the GDNF ligand family GFRas ; transforming growth factor-B TGFB ; Parkinson s disease PD ; dopaminergic DA neurons;

    Sammanfattning : Background: The mammalian nervous system depends upon trophic proteins for survival, growth and adult maintenance. These trophic factors have also been considered as potential therapeutic agents for treating human neurodegenerative disorders. LÄS MER