Sökning: "Single nucleotide polymorphism"

Visar resultat 41 - 45 av 194 avhandlingar innehållade orden Single nucleotide polymorphism.

1. 41. Hypothyroidism and Pregnancy

   Författare :Michaela Granfors; Anna-Karin Wikström; Inger Sundström-Poromaa; Helena Åkerud; Ulla Feldt-Rasmussen; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; phosphodiesterase 8B; recurrent miscarriage; single nucleotide polymorphism; thyroid; guidelines; hypothyroidism; pregnancy; survey; thyroid testing; screening; iodine; iodine deficiency; median urinary iodine concentration; Obstetrik och gynekologi; Obstetrics and Gynaecology;

   Sammanfattning : Hypothyroidism is a common endocrine disorder affecting women of reproductive age. On a global level, iodine deficiency is still the most common cause of hypothyroidism. Also genetic variations, in particular SNP rs4704397 in the PDE8B gene, are responsible for a significant proportion of TSH variations. LÄS MER

3. 42. Analysis of genetic variations in cancer

   Författare :Johanna Hasmats; Joakim Lundeberg; Carsten Daub; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Mutations; Variations; Single Nucleotide Polymorphism; DNA; RNA; Genome; Massively Parallel Sequencing; Exome Sequencing; Toxicity;

   Sammanfattning : The aim of this thesis is to apply recently developed technologies for genomic variation analyses, and to ensure quality of the generated information for use in preclinical cancer research.Faster access to a patients’ full genomic sequence for a lower cost makes it possible for end users such as clinicians and physicians to gain a more complete understanding of the disease status of a patient and adjust treatment accordingly. LÄS MER

4. 43. Early life cytokines, viral infections and IgE-mediated allergic disease

   Författare :Anna-Karin Larsson; Marita Troye-Blomberg; Gunnar Lilja; Maria Jenmalm; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; IgE-sensitisation; childhood; cytokine; viral infection; atopy; single nucleotide polymorphism; cord blood; Immunology; Immunologi;

   Sammanfattning : Background: The reasons why some individuals become IgE-sensitised and allergic are largely unknown, though genetic- and early life environmental factors seem to be of importance.Objective: The overall aim of this thesis was to investigate the relationship between IgE-sensitisation and allergic disease, viral infections, genetic markers and early life cytokines. LÄS MER

5. 44. Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus

   Författare :Sara E Löfgren; Ulf Gyllensten; Jan Hillert; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; systemic lupus erythematosus; genetic association; single nucleotide polymorphism; IRF5; CD226; miR-146a; Medical Science; Medicinsk vetenskap; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. LÄS MER

7. 45. Gene transfer by interspecific hybridization in bryophytes

   Författare :Weerachon Sawangproh; Biodiversitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; homozygote; heterozygote; admixture; single nucleotide polymorphism; STRUCTURE; PCoA; hybrid index; inbreeding; outbreeding; hybrid depression; heterosis; phylogeny; purging selection; genetic purging; genotype; phenotype; sympatry; allopatry;

   Sammanfattning : The role of hybridization in evolution has been debated for more than a century regarding bryophytes (mosses, liverworts, and hornworts) as well as most other organisms. Bryophytes have haplodiplontic life cycles with a dominant haploid generation. LÄS MER