Sökning: "FAP"

Visar resultat 1 - 5 av 32 avhandlingar innehållade ordet FAP.

  1. 1. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Författare :Anna Rohlin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

  3. 2. Alkaline Sphingomyelinase; A Potential Inhibitor in Colorectal Carcinogenesis

    Författare :Erik Hertervig; Lund Medicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; onkologi; cancer; Cytologi; cancerology; oncology; Cytology; Gastroenterologi; Gastro-enterology; HT-29; MIN mouse; FAP; colorectal cancer; human; alkaline sphingomyelinase;

    Sammanfattning : Sphingomyelin (SM) is present both in eucaryotic cells and the diet. Sphingomyelinase (SMase) hydrolyses SM and generates ceramide that has been implicated in the regulation of cell growth, differentiation and apoptosis. Previously a SMase with alkaline pH optimum was identified in the intestinal tract. LÄS MER

  4. 3. Targeting cytotoxic species in amyloid diseases

    Författare :Malin Lindhagen Persson; Anders Olofsson; Lars Tjernberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Amyloid-beta; transthyretin; FAP; amyloid; cytotoxic species; oligomers; medicinsk biokemi; Medical Biochemistry;

    Sammanfattning : Amyloid diseases are a world-wide problem causing great human suffer and large economical costs. Although amyloid deposits, a common denominator in all amyloid disorders, are detrimental to the surrounding tissue, there is a poor correlation between total amyloid burden and clinical symptoms. LÄS MER

  5. 4. Cardiac arrhythmias and heart rate variability in familial amyloidotic polyneuropathy : A clinical study before and after liver transplantation

    Författare :Rolf Hörnsten; Urban Wiklund; Staffan Andersson; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical physiology; Klinisk fysiologi;

    Sammanfattning : Familial amyloidotic polyneuropathy (FAP), found in the northernmost counties in Sweden, is a rare, lethal and inherited amyloidosis. The disease is caused by mutated transthyretin (TTR). The mutation is characterized by an exchange of valine for methionine at position 30 (ATTRVal30Met). LÄS MER

  7. 5. Colon cancer : disease related proteins in tumor tissue and serum

    Författare :Uwe Johannes Roblick; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Despite the progress in surgical techniques and adjuvant therapies the mortality of around 60% within the group of colon cancer patients did not decrease significantly over the last decades. This determines a growing demand for biomarkers for early detection, prognosis and risk assessment in colorectal malignancies. LÄS MER