Search for dissertations about: "Familial Amyloidosis"

Showing result 1 - 5 of 24 swedish dissertations containing the words Familial Amyloidosis.

2. 1. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

   Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

   Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

4. 2. 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. 3. Cardiac involvement in familial amyloidosis with polyneuropathy

   Author : Peter Eriksson; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloidosis; arrhythmias; cardiac pacing; cardiac radionuclide; imaging; echocardiography; electrocardiography; pathology;

   Abstract : Familial amyloidosis with polyneuropathy (FAP) is a neuropathic form of heredofamilial systemic amyloidosis. Clusters of patients have been reported predominantly from Portugal, Japan and Sweden. The present study examines the involvement of the heart in individuals with the Swedish variety of FAP. READ MORE

6. 4. Gastrointestinal involvement in familial amyloidosis with polyneuropathy : a clinical study

   Author : Lars Steen; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloidosis; electromyogram; malabsorption syndrome; gastric acid; gastroscopy; radioisotopes; radiography; intestinal mucosa;

   Abstract : Familial Amyloidosis with Polyneuropathy was first recognized in Portugal and reported by Andrade in 1952. The disease is rare, but clustering of the patients has been reported from Portugal, Japan and northern Sweden. The gastrointestinal involvement in the Swedish form of the disease was studied in this investigation. READ MORE

7. 5. A Drosophila Disease-Model for Transthyretin-associated Amyloidosis

   Author : Malgorzata Pokrzywa; Erik Lundgren; Damian Crowther; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; transthyretin; amyloid; amyloidosis; Drosophila; transthyretin-associated amyloidosis; Familial amyloid polyneuropathy; neurodegeneration; serum amyloid P component; Non-steroidal Anti-Inflammatory Drugs; drug screens; Molecular biology; Molekylärbiologi;

   Abstract : Amyloidoses comprise a group of gain-of-toxic function protein misfolding diseases, in which normally soluble proteins in their functional state undergo conformational changes into highly organized and generally intractable thread-like aggregates, termed amyloid fibrils. These structures accumulate predominantly in the extracellular space but growing evidence suggests that amyloids may start to form intracellularly. READ MORE