Sökning: "PYGM"

Hittade 3 avhandlingar innehållade ordet PYGM.

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

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

    Sammanfattning : Multiple Endocrine Neoplasia Type 1 - Clinical and Molecular Characterization by Bin Tean Teh, Department of Molecular Medicine, Endocrine Tumor Unit, KarolinskaInstitute, Stockholm, Sweden This thesis is based on clinicopathologic and genetic studies of MEN1 and MEN1-likesyndromes. Linkage to the MENl locus in chromosome 11q13 was cofirmed in the largestknown MEN1 family and 5 Swedish MEN1 families. LÄS MER

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

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

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

    Författare :Shideh Khodaei-O'Brien; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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