Search for dissertations about: "chromosome 10q"

Showing result 1 - 5 of 9 swedish dissertations containing the words chromosome 10q.

  2. 1. Molecular genetic aspects of renal cell carcinoma development

    Author : Andrei Alimov; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Kidney tumor; RCC; LOH; CGH; SKY; PTEN; chromosome 3p; chromosome 10q; chromosome 14q;

    Abstract : Renal cell carcinoma (RCC) is the most common tumor of the renal parenchyma. The aim of this study was to further characterize known as well as new genetic abnormalities in a clinical material of RCC, as well as in established cell lines to gain more information about etiological and progression factors. READ MORE

  4. 2. Identification of susceptibility genes in type 2 diabetes

    Author : Sofia Nordman; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Type 2 diabetes; single nucleotide polymorphism; genetic association;

    Abstract : Identification of the susceptibility genes will offer better understanding of molecular mechanisms underlying T2D pathogenesis, and subsequently may lead to development of novel therapeutic approaches. This thesis mainly concerns the genetic association study of four candidate genes. READ MORE

  5. 3. Association studies on susceptibility genes in Alzheimer disease

    Author : Behnosh Fakhri Björk; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Our results support the involvement of genetic variants in IDE; TFAM and COL25A1 in AD cases from Sweden; whereas; it does not for PITRM1.;

    Abstract : Alzheimer disease (AD) is the most common form of dementia in the elderly. Due to the complexity of AD, it has been difficult to find genetic risk factors predisposing to disease. To date, three genes (APP, PSEN1 and PSEN2) with disease causing genetic variants have been reported for the rare early onset monogenic forms of AD. READ MORE

  6. 4. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    Author : Annika Bergman; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

    Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE

  7. 5. Genetic variation in genes involved in Abeta-degradation in Alzheimer disease

    Author : Mia Blomqvist; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Alzheimer disease; SNPs; genotyping; association study; haplotype; linkage disequilibrium; association mapping;

    Abstract : Alzheimer disease (AD) is a neurodegenerative disorder that causes dementia among mainly elderly people and is increasing in prevalence in industrialized societies from 1 to 3 % in 60-65 year-olds to as much as 50 % by age 95. This disease is complex. Multiple genes are involved, and they potentially affect each other. READ MORE