Sökning: "missense mutations"

Visar resultat 1 - 5 av 97 avhandlingar innehållade orden missense mutations.

1. 1. HEMOPHILIA A AND B WITH SPECIAL REFERENCE TO INHIBITOR DEVELOPMENT AND EXPERIMENTAL STUDIES OF FACTORS VIII AND IX

   Författare :Karin Knobe; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haematology; inhibitors; mutations; Factor IX; Factor VIII; coagulation; hemophilia A and B; extracellular fluids; Hematologi; extracellulära vätskor;

   Sammanfattning : The general objective of the research underlying this dissertation was to conduct clinical and basic scientific studies to further elucidate the hemophilia and the coagulation process, with the goal of improving the care of families with these disorders. More specific aims were to evaluate epidemiological, genetic, clinical, and biochemical aspects of the development of inhibitors (antibodies) against FVIII and FIX in Swedish patients with hemophilia A and B (papers I, II, and III). LÄS MER

3. 2. Activating proto-oncogene mutations in human cutaneous melanoma

   Författare :Katarina Omholt; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Cutaneous melanoma arises from melanocytes located in the basal layer of the epidermis. The disease is known to progress through well-defined steps: 1) common nevus; 2) dysplastic nevus; 3) radial growth phase (RGP) primary melanoma; 4) vertical growth phase (VGP) primary melanoma; and 5) metastatic melanoma. LÄS MER

4. 3. Structural pathology and functional analysis of vitamin K-dependent protein S

   Författare :Tusar K Giri; Malmö Klinisk kemi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; C4b-binding protein; Protein S; blood coagulation; thrombosis; natural mutations; in vitro characterization.; Immunology; transplantation; serologi; Immunologi; serology;

   Sammanfattning : Protein S deficiency is an autosomal dominant trait affecting around 10% of families thrombophilic families. The high affinity interaction of approximately 60% of protein S with C4b -binding protein (C4BP) has raised a complicated situation for the diagnosis of deficiency states. LÄS MER

5. 4. Versatile Implementations of an Improved Cell-Free System for Protein Biosynthesis : Functional and structural studies of ribosomal protein L11 and class II release factor RF3. Novel biotechnological approach for continuous protein biosynthesis

   Författare :Lamine Bouakaz; Måns Ehrenberg; Richard Buckingham; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Protein synthesis; translation termination; ribosome; release factor; cell-free system; missense error; gel filtration; affinity chromatography; Molekylärbiologi; Molecular biology; Molekylärbiologi;

   Sammanfattning : Advances in genetics, proteomics and chromatography techniques have enabled the successfully generation of a cell-free bacterial translation system composed of highly pure and active components. This system provided an ideal platform for better elucidating the mechanism of each individual step of the prokaryotic protein biosynthesis and the function of the translation factors involved in the process. LÄS MER

7. 5. Statins, Lipids, and Mutations: Consequences for the Heart and Immune System

   Författare :Emil G. Ivarsson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CAAX Proteins; Statins; RHO Proteins; Dilated Cardiomyopathy;

   Sammanfattning : CAAX proteins are a group of proteins that undergo a three-step protein maturation process that renders the proteins carboxyl-terminus hydrophobic and prone to localize to cellular membranes, where they have their primary function. The first step in this process is called prenylation, which is the covalent attachment of a lipid, either a 15-carbon farnesyl or a 20-carbon geranylgeranyl lipid, to the carboxyl-terminal cysteine residue by the enzymes farnesyltransferase (FTase) and geranylgeranyltransferase type I (GGTase-I), respectively. LÄS MER