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Showing result 1 - 5 of 13 swedish dissertations matching the above criteria.

2. 1. Molecular Genetic Studies of the Blood Group ABO Locus in Man

   Author : Martin L Olsson; Avdelningen för hematologi och transfusionsmedicin; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chi sequence; recombination; population studies; blood group serology; erythrocyte; blood transfusion; sequencing; DNA; PCR; genomic; Blood group ABO; allele; Immunology; serology; transplantation; Immunologi; serologi; Clinical genetics; Klinisk genetik;

   Abstract : The ABO blood group system is undoubtedly the most important genetic and phenotypic marker in clinical transfusion medicine. The A and B determinants are immunodominant, terminally located carbohydrate residues of glycoconjugates on erythrocytes and other cell surfaces. READ MORE

4. 2. Monoglyceride Lipase and Hormone-Sensitive Lipase - Molecular and structural aspects

   Author : Marie Karlsson; Institutionen för experimentell medicinsk vetenskap; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genomic organisation; baculovirus-insect cells; catalytic triad; alfa beta hydrolase fold; tissue distribution; cDNA sequence; lipolysis; adipocyte; monoglyceride lipase; hormone-sensitive lipase; chromosomal localisation; Clinical biology; Klinisk biologi;

   Abstract : Triglycerides in the adipocyte are hydrolysed by means of three consecutive reactions through the combined action of two lipases: hormone-sensitive lipase (HSL) and monoglyceride lipase (MGL). HSL catalyses the first and rate-limiting step, i.e. READ MORE

5. 3. Chromosomal Instability and Genomic Amplification in Bone and Soft Tissue Tumours

   Author : David Gisselsson Nord; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; nuclear atypia; kinetochore; anaphase bridge; p53; breakage-fusion-bridge cycle; TP53; HMGIC; MDM2; mitotic instability; genomic instability; FISH; osteosarcoma; liposarcoma; amplification; tumour; chromosome; cytogenetics; Clinical genetics; Klinisk genetik;

   Abstract : Acquired genetic abnormalities are found in all types of malignant tumours and may contribute to neoplastic processes by altering protein structure or dosage. Many bone and soft tissue tumours (BSTT) are characterised by complex patterns of chromosome changes, including extensive intratumour heterogeneity and amplification of DNA sequences. READ MORE

6. 4. Correlation Between Phenotype and Genotype in Some Clinically Important Blood group Systems

   Author : Nidal Irshaid; Avdelningen för hematologi och transfusionsmedicin; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunologi; transplantation; serology; transfusion medicine; Blood group; DNA; Immunology; genomic typing; serologi;

   Abstract : In the past decade, the molecular basis for most of the blood group systems has been investigated intensively. Many blood group genes have been cloned and the polymorphisms of clinically significant blood group systems have been elucidated. READ MORE

7. 5. The Functional Significance and Chromatin Organisation of the Imprinting Control Regions of the H19 and Kcnq1 Genes

   Author : Meena Kanduri; Rolf Ohlsson; Karl Ekwall; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA methylation; Imprinting control region; Chromatin; Insulator; Nucleosome positioning; Genetik; Genetics; Genetik;

   Abstract : Genomic imprinting is a phenomenon through which a subset of genes are epigenetically marked during gemtogenisis. This mark is maintained in the soma to often manifest parent of origin-specific monoalleleic expresson patterns. READ MORE