Search for dissertations about: "genetic alterations"

Showing result 1 - 5 of 328 swedish dissertations containing the words genetic alterations.

2. 1. Genetic Alterations in Lymphoma : with Focus on the Ikaros, NOTCH1 and BCL11B Genes

   Author : Anneli Karlsson; Peter Söderkvist; Shi-Mei Zhuang; Jan-Ingvar Jönsson; Dan Grandér; Linköpings universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cell proliferation; Lymphoma; Znfn1a1; Notch1; Bcl11b; chromosomal regions; Ikaros; B-cell lymphomas; Oncology; Onkologi;

   Abstract : Cell proliferation is a process that is strictly regulated by a large number of proteins. An alteration in one of the encoding genes inserts an error into the regulative protein, which may result in uncontrolled cell growth and eventually tumor formation. READ MORE

4. 2. Molecular genetic studies on cystinuria

   Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

5. 3. Genomic and genetic alterations in endometrial adenocarcinoma

   Author : Eva Falck; Karin Klinga-Levan; Afrouz Behboudi; Pierre Åhman; Örebro universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Endometrial cancer; Genetic background; BDII rat model; SKY; Chromosomal abreations; Gene expression; Medicine; Medicin; Natural sciences;

   Abstract : The most frequently diagnosed cancer of the female genital tract is cancer of the endometrium (endometrial cancer), ranking fourth among the invasive tumors that affect women in Europe and North America. As most other cancer types, endometrial cancer is a complex genetic disease influenced by both genetic and environmental factors. READ MORE

6. 4. Male Subfertility and Prostate Cancer Risk: Epidemiological and Genetic Studies

   Author : Yasir Ruhayel; Malmö Molekylärgenetisk reproduktionsmedicin; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cytoplasmic and nuclear; Receptors; Prostatic neoplasms; genetic; Polymorphism; male; Infertility; Hypogonadism; Genetic association studies; Case–control studies; Androgens;

   Abstract : Androgen action plays a pivotal role in male reproductive tract physiology and pathology. The androgen receptor (AR) gene harbors two codon repeat tracts: the CAG and GGN repeats, encoding corresponding amino acid sequences of variable length; the polyglutamine and polyglycine stretches, respectively. READ MORE

7. 5. Genetic Alterations in Pheochromocytoma and Paraganglioma

   Author : Jenny Welander; Peter Söderkvist; Oliver Gimm; Mercedes Robledo; Linköpings universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pheochromocytoma; paraganglioma; genetics; sequencing; cancer; mutation;

   Abstract : Pheochromocytomas and paragangliomas are neuroendocrine tumors that arise from neural crest-derived cells of the adrenal medulla and the extra-adrenal paraganglia. They cause hypertension due to an abnormally high production of catecholamines (mainly adrenaline and noradrenaline), with symptoms including recurrent episodes of headache, palpitations and sweating, and an increased risk of cardiovascular disease. READ MORE