Search for dissertations about: "liver disease transthyretin"

Showing result 1 - 5 of 8 swedish dissertations containing the words liver disease transthyretin.

  2. 1. 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. 2. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition

    Author : Björn Pilebro; Ole Suhr; Henning Mölgaard; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; Transthyretin; Cardiomyopathy; Echocardiography; Scintigraphy; Positron emission tomography; cardiovascular disease; hjärt- och kärlforskning; kardiologi; Cardiology; Clinical Physiology; klinisk fysiologi;

    Abstract : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. READ MORE

  5. 3. Gastrointestinal disturbances in hereditary transthyretin amyloidosis

    Author : Jonas Wixner; Ole B Suhr; Intissar Anan; Pontus Karling; Anders Rönnblom; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Autonomic Nervous Systems; Cajal Interstitial Cells; Enteric Nervous System; Familial Amyloid Polyneuropathy; Functional Gastrointestinal Disorders; Gastric Emptying; Liver Transplantation; Nutrition Status; Transthyretin Amyloidosis; medicin; Medicine;

    Abstract : BackgroundTransthyretin amyloid (ATTR) amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin (TTR) monomers. Two main forms exist – wild-type and hereditary ATTR amyloidosis, the latter associated with TTR gene mutations. READ MORE

  6. 4. Two Types of Fibrils in ATTR Amyloidosis : Implications for Clinical Phenotype and Treatment Outcome

    Author : Elisabet Ihse; Per Westermark; Per Hammarström; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloid; transthyretin; familial amyloidotic polyneuropathy; TTRV30M; non-TTRV30M; wild-type; liver transplantation; cardiomyopathy; fibril composition; Biokemi; Biochemistry; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Experimentell patologi; Experimental Pathology; Medical Biochemistry; Medicinsk biokemi; Molecular Biology; Molekylärbiologi; Pathology; Patologi;

    Abstract : Systemic amyloidoses are a group of lethal diseases where proteins aggregate into fibrillar structures, called amyloid fibrils, that deposits throughout the body. Transthyretin (TTR) causes one type of amyloidosis, in which the aggregates mainly infiltrate nervous and cardiac tissue. READ MORE

  7. 5. Kinetic stabilization of transthyretin and its role as an inhibitor of Aβ amyloid formation

    Author : Lina Nilsson; Anders Olofsson; Elisabeth Sauer-Eriksson; Gunilla Westermark; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Amyloid; transthyretin; amyloid beta; kinetic stabilizer; biokemi; Biochemistry;

    Abstract : Amyloid formation occurs when normally soluble proteins and peptides misfold and aggregate into intractable threadlike structures called fibrils. There are currently more than 30 proteins associated with this aberrant structure, including the Aβ peptide in Alzheimer’s disease (AD) and transthyretin (TTR) in TTR amyloidosis. READ MORE