Search for dissertations about: "Genetics amyloid"

Showing result 1 - 5 of 11 swedish dissertations containing the words Genetics amyloid.

  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. Microangiopathies of the human brain b immunohistochemical studies on extracellular matrix components in arterial vessels and endothelin

    Author : Wei Wei Zhang; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Microangiopathy; human brain; hyalinosis; amyloid angiopathy; CADASIL; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Abstract : Microangiopathies may cause ischemic brain lesions and are of fundamental importance in vascular dementia. Risk factors include high age, hypertension, diabetes and Alzheimer's disease. READ MORE

  5. 3. Proislet Amyloid Polypeptide (proIAPP) : Impaired Processing is an Important Factor in Early Amyloidogenesis in Type 2 Diabetes

    Author : Johan F. Paulsson; Gunilla Westermark; Christer Betsholtz; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biosynthesis amyloid; Genetics amyloid; Metabolism amyloid; Islets of Langerhans; Proprotein convertases; Posttranslation protein processing; Medical cell biology; Medicinsk cellbiologi;

    Abstract : Amyloid is defined as extracellular protein aggregates with a characteristic fibrillar ultra-structure, Congo red affinity and a unique x-ray diffraction pattern. At present, 25 different human amyloid fibril proteins have been identified, and amyloid aggregation is associated with pathological manifestations such as Alzheimer’s disease, spongiform encephalopathy and type 2 diabetes. READ MORE

  6. 4. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics

    Author : Stellan Mörner; Åke Hjalmarson; Umeå universitet; []
    Keywords : Hypertrophic cardiomyopathy; genetics; autonomic nervous system; familial amyloid polyneuropathy; echocardiography; Epidemiology; epidemiologi;

    Abstract : Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. READ MORE

  7. 5. 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