Search for dissertations about: "chromosome 16"

Showing result 1 - 5 of 78 swedish dissertations containing the words chromosome 16.

2. 1. Pharmacological Studies of Four Neuropeptide Y-family Receptor Subtypes

   Author : Paula Sjödin; Dan Larhammar; Nina Mohell; Nigel Levens; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pharmacology; Farmakologi; Pharmacological research; Farmakologisk forskning;

   Abstract : The neuropeptide Y (NPY) family of structurally related peptides includes NPY, peptide YY (PYY) and pancreatic polypeptide (PP). They bind to G-protein coupled receptors named Y receptors, and include in mammals Y1, Y2, Y4, Y5, Y6 and in non-mammalian vertebrates also Y7, Yb and Yc. READ MORE

4. 2. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer

   Author : Zhongmin Guo; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; CIN; clonality; X-chromosome inactivation; LOH; HPV; chromosome 3p; chromosome 6; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

   Abstract : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. READ MORE

5. 3. Characterization of chromosome abnormalities

   Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. READ MORE

6. 4. Genetics of the carbohydrate-deficient glycoprotein syndrome type Ia

   Author : Cecilia Bjursell; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CDG Ia; PMM2; chromosome 16; linkage; linkage disequilibrium; prenatal diagnosis;

   Abstract : In recent years, a revolution in the development of new techniques have made it possible to perform genetic studies of inherited disorders without prior knowledge about the gene product or the function of the gene. The techniques include linkage studies, allelic association studies, physical mapping and the sequencing of candidate genes for finding disease causing mutations. READ MORE

7. 5. Chromosome aberrations and environmental exposures in acute leukemia

   Author : Ragnhild Rosengren Lindquist; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Acute leukemia; chromosome 3; chromosome 8; fragile site; occupational exposure; mutagen exposure; case-control study; trisomy; benzene; organic solvent; petroleum; epidemiology; environmental carcinogens; painter; driver;

   Abstract : The aims of this thesis are to evaluate the role of environmental exposures, especially professional exposure to organic solvents and petroleum products in the etiology of acute leukemia and to investigate if there is a correlation between the exposure to a specific leukemogen factor and a clonal chromosome aberration of the leukemic cells. Papers I and II present results of a case-control study of environmental exposures, in all occupations during life-time, medical treatments with medicines, chemotherapy and radiation, tobacco-use and the exposure to chemical compounds in private life in 120 patients with acute leukemia and of 120 controls, matched for age (+ 4 years), residence and sex. READ MORE