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 :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

3. 2. 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

4. 3. 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