Sökning: "MEN1"

Visar resultat 6 - 10 av 23 avhandlingar innehållade ordet MEN1.

  1. 6. Molecular studies of multiple endocrine neoplasia type 1 (MEN1)

    Författare :Shideh Khodaei-O'Brien; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :genetics; MEN1; cancer; tumor suppressor gene; cDNA selection; mutation; menin; ortholog; evolution; conservation; expression; RNA; protein; RT-PCR;

    Sammanfattning : Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors of the parathyroids, the endocrine pancreas and anterior pituitary. The MEN1 locus has been previously localized to chromosome 11q13 and subsequently a MEN1 minimum region was defined by a combination of linkage and tumor deletion studies. LÄS MER

  3. 7. Localization and characterization of genes involved in parathyroid tumor development

    Författare :Lars Forsberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Parathyroid; Hyperparathyroidsm; MEN1; HRPT2; Menin; Parafibromin; Chromosome 11; Chromosome 1;

    Sammanfattning : 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. LÄS MER

  4. 8. Multiple endocrine neoplasia type 1 : clinical and molecular characterization

    Författare :Bin Tean Teh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEN1; PYGM; loss of heterozygosity; thymic carcinoid; HPT-JT; HRPT2; FIHP; familial acromegaly; tumor suppressor gene.;

    Sammanfattning : This thesis is based on clinicopathologic and genetic studies of MEN1 and MEN1-like syndromes. Linkage to the MENl locus in chromosome 11q13 was confirmed in the largest known MEN1 family and 5 Swedish MEN1 families. An accuracy of >99. LÄS MER

  5. 9. Functional studies of the multiple endocrine neoplasia type 1 gene

    Författare :Lovisa Bylund; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEN1; menin; tumor suppressor gene; cancer; RNAi; promoter; expression; cytogenetic; microarray;

    Sammanfattning : The multiple endocrine neoplasia type 1 (MEN1, OMIM 131 100) syndrome is an autosomal dominant trait with a near 100% penetrance and with an estimated prevalence of 2-20/100 000. The syndrome is characterized by neoplasia affecting the parathyroid glands (90-97%), enteropancreatic endocrine tissues (30-80%) and the anterior pituitary gland (15-50%) but tumors arc also found in other, both endocrine and non endocrine tissues. LÄS MER

  7. 10. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

    Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER