Sökning: "gene carriers"

Visar resultat 1 - 5 av 233 avhandlingar innehållade orden gene carriers.

  1. 1. Solute Carriers in Metabolism : Regulation of known and putative solute carriers in the central nervous system

    Författare :Emilia Lekholm; Robert Fredriksson; Helgi B. Schiöth; David Drew; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Solute Carriers; transporter; amino acid starvation; glucose metabolism; MFS; SV2; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Solute carriers (SLCs) are membrane-bound transporter proteins, important for nutrient, ion, drug and metabolite transport across membranes. A quarter of the human genome codes for membrane-bound proteins, and SLCs make up the largest group of transporter proteins. LÄS MER

  3. 2. Atypical Solute Carriers : Identification, evolutionary conservation, structure and histology of novel membrane-bound transporters

    Författare :Emelie Perland; Robert Fredriksson; Helgi Schiöth; Åsa Mackenzie; Sonchita Bagchi; Carsten Uhd Nielsen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Major facilitator superfamily; solute carrier; transporter; protein expression; mRNA expression; phylogenetic clustering; orthologues; co-expression; subcellular location; nutrition.; Neuroscience; Neurovetenskap;

    Sammanfattning : Solute carriers (SLCs) constitute the largest family of membrane-bound transporter proteins in humans, and they convey transport of nutrients, ions, drugs and waste over cellular membranes via facilitative diffusion, co-transport or exchange. Several SLCs are associated with diseases and their location in membranes and specific substrate transport makes them excellent as drug targets. LÄS MER

  4. 3. Haemophilia in Sweden – Studies on mutations and clinical implications

    Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

    Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

  5. 4. Diabetes mellitus and risk of prostate cancer - A focus on shared risk factors and survivor bias

    Författare :Isabel Drake; Nutritionsepidemiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; carbohydrates; cohort; competing risk; diabetes mellitus; diet; epidemiology; fiber; gene; gene-environment; lifestyle; prostate cancer; survivor bias; transcription factor 7-like 2; whole-grain; alkylresorcinol metabolites;

    Sammanfattning : Prostate cancer (PCa) is a heterogenous disease including very aggressive lethal tumors to incidentally discovered clinically insignificant tumors. Age, ethnicity, and family history are the only established risk factors. LÄS MER

  7. 5. Novel approaches using electrocardiographic imaging for early detection of ARVC in patients and relatives and symptoms preceding sudden death

    Författare :Varvara Kommata; Carina Blomström-Lundqvist; Elena Sciaraffia; Domenico Corrado; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Arrhythmogenic Right Ventricular Cardiomyopathy; diagnosis; gene carriers; body surface mapping; electrocardiographic imaging; sudden cardiac death; Cardiology; Kardiologi; Cardiology; Kardiologi;

    Sammanfattning : Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease of the myocardium, predominantly affecting the right ventricle (RV). Arrhythmias are common among patients with the disease and Sudden Cardiac Death (SCD) can occur even in early stages. LÄS MER