Search for dissertations about: "Chromosome 11"

Showing result 11 - 15 of 97 swedish dissertations containing the words Chromosome 11.

2. 11. Registry-Based Studies in Adult Acute Lymphoblastic Leukemia in Sweden : Survival and Quality of Life

   Author : Emma Bergfelt Lennmyr; Helene Hallböök; Martin Höglund; Jan Maxwell Nørgaard; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute Lymphoblastic Leukemia; Philadelphia Chromosome; Overall Survival; Population-based; Quality Registry; Relapse; Patient-Reported Outcome; Health-Related Quality of Life; Depression;

   Abstract : Acute lymphoblastic leukemia (ALL), a common child malignancy, also constitutes a minor fraction of adult cancer with approximately 50 new cases per year in Sweden. While the five-year overall survival (OS) in pediatric ALL is more than 90%, the prognosis in adults is dismal. READ MORE

4. 12. Endocrine tumour development : with special focus on chromosome arms 1p and 11q

   Author : Brita Nord; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Endocrine tumour; Follicular thyroid tumour; Malignant melanoma; Midgut carcinoid; Pheochromocytoma; Abdominal paraganglioma; Merkel cell carcinoma; MEN1; SDHD; RIZ;

   Abstract : The overall goal of this thesis has been to characterise the involvement of chromosome arms 1p and 11 q in the development of endocrine tumours. The MEN1 gene was analysed as a candidate tumour suppressor gene by screening for mutations in follicular thyroid tumours, malignant melanomas, pheochromocytomas, and abdominal paragangliomas. READ MORE

5. 13. The molecular biology of retinoid metabolism : identification of an 11-cis retinol dehydrogenase in the retinal pigment epithelium

   Author : András Simon; Karolinska Institutet; Karolinska Institutet; []
   Keywords : 11-cis retinol; 11-cis retinol dehydrogenase; chromophore; 11-cis retinaldehyde; 9-cis retinol; 9-cis retinol dehydrogenase; retinal pigment epithelium; vitamin A; short-chain alcohol dehydrogenase;

   Abstract : Vitamin A derivatives (retinoids) are essential molecules in the course of embryonic development, postnatal growth and adult physiology. The physiological functions of retinoids are thought to be mediated mainly by retinoic acid which regulates the expression of various genes, and 11-cis retinaldehyde, which is the common chromophore of visual pigments. READ MORE

6. 14. Localization and characterization of genes involved in parathyroid tumor development

   Author : Lars Forsberg; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; Hyperparathyroidsm; MEN1; HRPT2; Menin; Parafibromin; Chromosome 11; Chromosome 1;

   Abstract : The overall goal of this thesis has been to identify new genes and characterize them regarding the involvement in parathyroid tumor development. The parathyroid glands are responsible for the control of calcium homeostasis. Parathyroid tumors usually have a benign growth pattern, with less than 1% of the tumors being malignant. READ MORE

7. 15. The art of transcriptome reconstruction : with applications in Picea abies (L.) H. Karst

   Author : Karl Johan Westrin; Olof Emanuelsson; Henric Zazzi; Lukas Käll; Jens Sundström; Jarkko Salojärvi; KTH; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; transcriptome reconstruction; transcriptome assembly; transcript isoform detection; Picea abies; acrocona; cone setting; differential expression; gene families; miRNA; quality assessment; transkriptomrekonstruktion; sammansättning av transkriptom; detektering av transkriptisoform; rödgran; kottegran; kottsättning; differentiellt uttryck; genfamiljer; kvalitetsutvärdering; miRNA; Biotechnology; Bioteknologi;

   Abstract : Transcriptome reconstruction is an important component in the bioinformatical part of transcriptome studies. When a reference genome is missing, highly fragmented or incomplete, a de novo transcriptome assembly is the transcriptome reconstruction approach of choice, since in such situations, a simple alignment (or mapping) would not necessarily give all theinformation concerning splice junctions, isoforms or even the full extent of the gene. READ MORE