Search for dissertations about: "genotype phenotype relationships"

Showing result 1 - 5 of 11 swedish dissertations containing the words genotype phenotype relationships.

2. 1. Drug metabolic capacity in Koreans : CYP2D6 & CYP2C19 pheno- and genotype relationships in healthy volunteers and in patients

   Author : Hyung-Keun Roh; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Drug metabolism; phenotype; genotype; CYP2D6; CYP2C 19; Korean; haloperidol; risperidone; omeprazole; gastric pH; gastrin; schizophrenia; patient.;

   Abstract : This thesis aimed to investigate the relationship between pheno- and genotype of two drugmetabolizing enzymes CYP2D6 and CYYP2C19 in Koreans. Population studies were conducted in healthy volunteers to obtain basic information on these two enzymes. READ MORE

4. 2. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia

   Author : Tiina Robins; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Congenital adrenal hyperplasia; CAH; CYP21; enzyme activity; modeling; genotype phenotype relationships; structure function relationships.;

   Abstract : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. READ MORE

5. 3. Genetic and Genomic Studies in Chicken : Assigning Function to Vertebrate Genes

   Author : Jonas Eriksson; Leif Andersson; Greger Larson; Göran Hjälm; Tosso Leeb; Uppsala universitet; []
   Keywords : Chicken; BCO2; TSHR; COMTD1; Phenotypic variation; Domestication; Selective sweeps; Pigmentation; Molekylär genetik; Molecular Genetics;

   Abstract : A major challenge in the post-genomic era is to understand how genome sequence variants (genotype) give rise to the enormous diversity observed in terms of morphology, physiology and behavior (phenotype) among living organisms. Domestic animals—with their tremendous phenotypic variation—are excellent model organisms for determining the relationships between genotype and phenotype. READ MORE

6. 4. Immunogenetics of Type 1 diabetes and Celiac disease

   Author : Shehab Abdulaziz Alshiekh; Celiaki och diabetes; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; celiac disease; type 1 diabetes; children; genetics; human leukocyte antigen; next generation sequencing;

   Abstract : AbstractThe primary purpose of understanding disease etiology is to explain how a specific phenotype is determined by genotype. In pursue of this aim, exploring the diversity in DNA sequence variants that affect biomedical traits, especially those related to the onset and progression of genetically determined human disease. READ MORE

7. 5. Microfluidics and AI for single-cell microbiology

   Author : Praneeth Karempudi; Johan Elf; Yoav Shechtman; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Microfluidics; Artificial intelligence; Deep learning; Single-cell microbiology; Biology with specialization in Molecular Biotechnology; Biologi med inriktning mot molekylär bioteknik;

   Abstract : Most of the biological sciences deal with understanding the relationships between phenotypes and the underlying molecular mechanisms of organisms. This thesis is an engineering, computational, and experimental exercise in expanding the scope and scale of phenotype-genotype mapping techniques in single-cell microbiology using microscopy, microfluidics, and image processing. READ MORE