Search for dissertations about: "chromosomal localization"

Showing result 1 - 5 of 32 swedish dissertations containing the words chromosomal localization.

  1. 1. Approaches for the localization and identification of human cancer genes

    Author : Wong-Onn Lui; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; CGH; FISH; SKY; karyotyping; SNP array; expression array; VHL-associated pheochromocytomas; hemangioblastomas; familial renal cell carcinoma; constitutional translocation; sporadic follicular thyroid tumors; chromosomal alterations; fusion oncogene; FTCF-PPAR gamma l; PAX8-PPAR gamma l.;

    Abstract : Chromosomal aberrations have been recognized as important observations that underpin the concept of a mutator phenotype in cancer. In this thesis, two basic strategies were applied to map the location of cancerrelated genes in several types of cancers. READ MORE

  2. 2. Localization and characterization of genes involved in parathyroid tumor development

    Author : Lars Forsberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; Parathyroid; Hyperparathyroidsm; MEN1; HRPT2; Menin; Parafibromin; Chromosome 11; Chromosome 1;

    Abstract : The overall goal of this thesis has been to identify new genes and characterize them regarding the involvement in parathyroid tumor development. The parathyroid glands are responsible for the control of calcium homeostasis. Parathyroid tumors usually have a benign growth pattern, with less than 1% of the tumors being malignant. READ MORE

  3. 3. Localization of five human genes by clinical and molecular genetic methods

    Author : Mihailo Vujic; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Abstract : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. READ MORE

  4. 4. Human insulin-like growth factor binding protein-4 and -6 : gene structure and transcription regulation

    Author : Henric Zazzi; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; IGF binding proteins IGFBP ; DNA sequencing; chromosomal localization; gene expression; Sp I; NF-kappa-B; methylation;

    Abstract : Insulin-like growth factors (IGF-I and IGF-II) are among the more abundant growth factors isolated from bone tissue and are synthesized by various bone cells including osteoblasts. The activity of IGFs is controlled by a family of binding proteins (IGFBPs) divided into subfamilies depending on their individual affinity for IGFs. READ MORE

  5. 5. Evolutionary Analysis of the Insulin-Relaxin Gene Family from the Perspective of Gene and Genome Duplication Events

    Author : Robert Piotr Olinski; Finn Hallböök; Mike Thorndyke; Pierre Pontarotti; Uppsala universitet; []
    Keywords : Neurosciences; insulin; relaxin; insulin-like protein; gene duplication; paralogous region; Ciona intestinalis; conserved synteny; ortholog; Drosophila melanogaster; Neurovetenskap;

    Abstract : Paralogs arise by duplications and belong to families. Ten paralogs (insulin; IGF-1 and -2; INSL3-6 and 3-relaxins) constitute the human insulin-relaxin family. The aim of this study was to outline the duplications that gave rise to the vertebrate insulin-relaxin genes and the chromosomal regions in which they reside. READ MORE