Search for dissertations about: "Amyloidosis"

Showing result 16 - 20 of 74 swedish dissertations containing the word Amyloidosis.

  2. 16. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

    Author : Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    Abstract : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. READ MORE

  4. 17. Familial amyloidosis with polyneuropathy : a clinical study based on patients living in northern Sweden

    Author : Rune Andersson; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : .... READ MORE

  5. 18. Localized and systemic AL-amyloidosis : Aspects on protein structure, fibril formation and analytical methods

    Author : Karen Ege Olsen; Jakob B. Natvig; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : AL-amyloidosis is a protein storage disease and one of the most common types of amyloidosis. The precursor protein is a monoclonal immunoglobulin light chain which originates from plasma cell dyscrasia in systemic AL-amyloidosis and is probably produced by a local plasma cell clone in localized AL-amyloidosis. READ MORE

  6. 19. Endogenous proteins as markers of glomerular function and dysfunction

    Author : Jan Tencer; Njurmedicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; glomerular filter; amyloidosis; glomerulonephritis; glomerular disease; proteins; proteinuria; Urology; nephrology; Urologi; nefrologi;

    Abstract : Plasma and urine concentrations of endogenous proteins are frequently used in the diagnosis of kidney diseases and in studies of glomerular filter function. The main issues addressed in these studies were: storage of urine samples for subsequent protein analysis, use of protein concentrations in urine and in plasma in health and as markers of glomerular diseases, and the application of renal plasma-to-urine clearance of endogenous proteins in estimating the size-selectivity properties of the glomerular capillary wall. READ MORE

  7. 20. Uncovering a Novel Pathway for Autoinflammation : With a Little Help from a Wrinkled Friend

    Author : Mia Olsson; Kerstin Lindblad-Toh; Gerli Pielberg; Göran Andersson; Leif Andersson; Rikard Holmdahl; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoinflammation; hyaluronic acid; amyloidosis; canine model; genetic association; Molekylär genetik; Molecular Genetics;

    Abstract : A major challenge in medical genetics is to identify the mutations underlying heritable diseases. Dogs are excellent genetic models in the search for causative mutations, as they constitute a large library of naturally occurring heritable diseases many of which are analogous to those suffered by man. READ MORE