Search for dissertations about: "allelic loss"

Showing result 1 - 5 of 38 swedish dissertations containing the words allelic loss.

2. 1. Targeting allelic loss in colorectal cancer

   Author : Verónica Rendo; Tobias Sjöblom; Nickolas Papadopoulos; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; gene editing; loss of heterozygosity; targeted therapy; whole genome sequencing;

   Abstract : Targeted cancer therapy exploits molecular differences between tumor and normal cells to selectively kill cancer cells. Whereas targeting of activated oncogenes has proved clinically useful, few current therapies exploit loss-of-function mutations in tumor suppressor genes or in the genome at large. READ MORE

4. 2. Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity

   Author : Jorune Balciuniene; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; linkage analysis; hearing loss; digenic inheritance; allelic association; monoamine oxidase; human genetic diversity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Abstract : This thesis focuses on the identification of genetic factors underlying two inherited human phenotypes: hearing loss and monoamine oxidase activity. Non-syndromic hearing loss segregating in a Swedish family was tested for linkage to 13 previously reported candidate loci for hearing disabilities. READ MORE

5. 3. Molecular and clinical genetic studies of a novel variant of familial hypercalcemia

   Author : Eva Szabo; Jan Zedenius; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; hyperparathyroidism; calcium receptor; hypercalcemia; allelic loss; autosomal inheritance; Kirurgi; Surgery; Kirurgi; Kirurgi; Surgery;

   Abstract : Familial primary hyperparathyroidism (HPT) is a rare disorder that is treated surgically and mostly occurs in association with tumor-susceptibility syndromes, like multiple endocrine neoplasia and the hyperparathyroidism-jaw tumor syndrome. Familial hypercalciuric hypercalcemia (FHH) is another cause of hereditary hypercalcemia that generally is considered to require no treatment and is genetically and pathophysiologically distinct from HPT. READ MORE

6. 4. Genetic susceptibility to cervical and gastric cancer

   Author : Patrik Magnusson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; gastric cancer; genetic susceptibility; familiality; heritability; HPV; Helicobacter pylori; genetic association; HLA; P53; loss of heterozygosity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Abstract : Cervical and gastric cancer both to a large extent depend on infectious agents. Cervical infection with human papilloma virus increases the risk for cervical cancer substantially, and infection with the bacteria Helicobacter pylori increases the risk for gastric cancer. READ MORE

7. 5. p53 and neoplastic progression in Barrett's esophagus

   Author : Stig Ramel; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Barrett s esophagus; neoplastic progression; flow cytometry; p53 gene; p53protein; 17p allelic loss; p53 mutations; S phase fractions; aneuploidy; SV 40 large T antigen; elastase-SV 40 T antigen transgenic mice.;

   Abstract : Barrett's esophagus is a condition in which the normal squamous epithelium is replaced by columnar epithelium as a response to acid reflux. It develops as a complication in 10-20% of patients with gastroesophageal reflux disease. READ MORE