Sökning: "arvsanlag"

Visar resultat 1 - 5 av 24 avhandlingar innehållade ordet arvsanlag.

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

    Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 2. The role of genetic variation and DNA methylation in human glucose metabolism and type 2 diabetes

    Författare :Tina Rönn; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; gene expression; oxidative phosphorylation; GWAS; SNP; DNA methylation; epigenetics; type 2 diabetes;

    Sammanfattning : The incidence of diabetes is increasing worldwide, with the most prevalent form being type 2 diabetes. Two fundamental processes contribute to the development of type 2 diabetes: insulin resistance in target organs and insufficient insulin secretion from the pancreatic beta-cells. LÄS MER

  4. 3. Genetic and molecular alterations in aldosterone producing adenomas

    Författare :Ravi Kumar Dutta; Peter Söderkvist; Oliver Gimm; Ute Scholl; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Aldosterone producing tumors (APA, also known as Conn tumors) are adrenal tumors that overproduce aldosterone, a hormone that regulates the sodium levels in blood and contributes to blood pressure (BP) regulation. Excessive production of aldosterone causes hypertension and approximately 5-15% of hypertensive patients have hyperaldosteronism, known as primary aldosteronism (PA). LÄS MER

  5. 4. On chip integrated sample preparation for proteomics

    Författare :Simon Ekström; Avdelningen för Biomedicinsk teknik; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Elektroteknik; Electrical engineering; enzymologi; Proteiner; enzymology; Proteins; Analytisk kemi; sample preparation; mass spectrometry; microfluidics; miniaturization; Biochemical technology; proteomics; Analytical chemistry; Biokemisk teknik;

    Sammanfattning : The aim of this thesis project has been to create miniaturized analytical tools that improve sample preparation for the very rapidly growing field of proteomics research. The presented miniaturized analytical tools provide novel and generic analytical solutions, which are highly adaptable for analysis of various low abundant biomolecules. LÄS MER

  7. 5. Molecular Epidemiology of Breast Cancer

    Författare :Sophia Harlid; Malmö Klinisk mikrobiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast Cancer; Heritability; Methylation potential; CpG-SNPs; Common variants; Gene-environment interactions;

    Sammanfattning : Hereditary breast cancer constitutes a considerable fraction of the total number of breast cancer cases occurring each year. Up until recently very few breast cancer predisposing genes were known, but many new common polymorphisms contributing to increased cancer susceptibility are continuously being identified. LÄS MER