Sökning: "Multiple hereditary exostoses"

Hittade 3 avhandlingar innehållade orden Multiple hereditary exostoses.

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

    Författare :Mihailo Vujic; Göteborgs universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 2. Enzymes involved in heparan sulfate chain elongation : Function of a novel family of tumor suppressors?

    Författare :Thomas Lind; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biochemistry; heparan sulfate; biosynthesis; glycosyltransferase; EXT1; EXT2; UDP-glucosedehydrogenase; KfiC; Biokemi; Biochemistry; Biokemi; Medical and Physiological Chemistry; medicinsk och fysiologisk kemi;

    Sammanfattning : Heparan sulfate (HS) is a glycosaminoglycan associated with many physiological functions such as regulation of growth factor action and cell adhesion. The HS polysaccharide is synthesized by alternating addition of D-glucuronic acid (GlcA) and N-acetyl-D-glucosamine (GlcNAc) units from the corresponding UDP-sugar precursors. LÄS MER

  4. 3. N-Sulfation and Polymerization in Heparan Sulfate Biosynthesis

    Författare :Jenny Presto; Lena Kjellén; Gunnar Pejler; Anders Malmström; Uppsala universitet; []
    Nyckelord :Cell and molecular biology; Heparan sulfate; N-deacetylase N-sulfotransferase; NDST; EXT1; EXT2; Biosynthesis; Cell- och molekylärbiologi;

    Sammanfattning : Heparan sulfate (HS) is a glycosaminoglycan present in all cell types covalently attached to core proteins forming proteoglycans. HS interacts with different proteins and thereby affects a variety of processes. LÄS MER