Search for dissertations about: "Funktionella Varianter"

Showing result 1 - 5 of 12 swedish dissertations containing the words Funktionella Varianter.

2. 1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

   Author : Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

   Abstract : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. READ MORE

4. 2. MHC polymorphism and host-pathogen interactions: The case of Borrelia in its reservoir host, the bank vole Myodes glareolus

   Author : Kristin Scherman; MEMEG; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Host-pathogen interaction; Negative frequency dependent selection; Myodes glareolus; Borrelia;

   Abstract : The major histocompatibility complex (MHC) class IIB genes exhibit extensive allelic polymorphism, most likely maintained by pathogen-mediated balancing selection (PMBS). PMBS may operate in the form of heterozygote advantage (HA), and/or through the interaction of pathogens and specific MHC alleles via fluctuating selection (FS) or negative frequency-dependent selection (NFDS). READ MORE

5. 3. The impact of glucotoxicity on pancreatic β-cell function

   Author : Sarheed Jabar Muhammed; Islet cell physiology; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cAMP PKA system; iNOS; Type 2 diabetes; GSIS; PDE; GK rat; ZDF fa fa rat; GPR40; VDAC1; VDAC2; GSK-3β; ChREBP; TXNIP; resveratrol.;

   Abstract : Type 2 diabetes mellitus is connected with elevated plasma glucose levels which negatively influence β-cells and cause impaired glucose-stimulated insulin secretion (GSIS). The aim of present thesis was to investigate the impact of long-term hyperglycemia on the pancreatic islet β-cell function. READ MORE

6. 4. Towards understanding of complex disease etiology using sequence Capture Hi-C (HiCap) and associated high throughput functional assays

   Author : Sailendra Pradhananga; Pelin Sahlén; Joakim Lundeberg; Benedicte Alexandra Lie; KTH; []
   Keywords : Capture Hi-C; RNA sequencing; Whole genome sequencing; ChIP sequencing; Chromatin loops; enhancers; promoters; Bioteknologi; Biotechnology;

   Abstract : A human genome laid out in a straight line would measure 2m from end to end, but in living cells it is folded into a compact structure contained in a nuclear space with a diameter of 2µm. This compact genome is hierarchically organized and spatiotemporally regulates distinct cellular gene expression mechanisms via promoter - enhancer chromatin loops. READ MORE

7. 5. Exploring human variations by droplet barcoding

   Author : Pontus Höjer; Afshin Ahmadian; Pelin Sahlén; Lars Feuk; KTH; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; droplets; linked-read sequencing; DNA barcoding; proteomics; genomics; single cell; single extracellular vesicle; single exosome; pipelines; Biotechnology; Bioteknologi;

   Abstract : Biological variations are being explored at ever-increasing rates through the rapid advancement of analytical techniques. Techniques like massively parallel sequencing empower scientists to accurately differentiate individuals’ genetic compositions, cellular functionalities, and healthy tissue from diseased. READ MORE