Search for dissertations about: "genetic variant"

Showing result 21 - 25 of 332 swedish dissertations containing the words genetic variant.

  2. 21. Reverse genetic studies of Enterovirus replication

    Author : Anna Sävneby; A. Michael Lindberg; Björn Andersson; Peter Gierow; Jonas Waldenström; Martin Ryan; Linnéuniversitetet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Enterovirus; picornavirus; coxsackievirus; echovirus; rhinovirus; reverse genetics; replication; translation; transfection; cassette vector.; Virology; Virologi;

    Abstract : Enteroviruses belong to the Picornaviridae family and are small icosahedral viruses with RNA genomes of positive polarity, containing a single open reading frame. They mostly cause mild or asymptomatic infections, but also a wide array of diseases including: poliomyelitis, encephalitis, gastroenteritis, aseptic meningitis, myocarditis, hand-foot-and-mouth disease, hepatitis and respiratory diseases, ranging from severe infections to the common cold. READ MORE

  4. 22. The roles of demography and natural selection in shaping genome-wide variation of Norway spruce

    Author : Xi Wang; Pär K. Ingvarsson; Carolina Bernhardsson; Xiao-Ru Wang; Nathaniel Street; Tanja Pyhäjärvi; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Norway spruce; whole-genome resequencing; variant calling; genetic linkage map; nucleotide diversity; natural selection;

    Abstract : Understanding the relative contribution of genetic drift, natural selection, and mutation to genetic variation, and quantifying adaptive evolution and the effects of natural selection in species are enduring goals of evolutionary genetics. Norway spruce (Picea abies) is one of the most important conifer species that dominates from both an ecological and economical point of view in many boreal ecosystems. READ MORE

  5. 23. Melatonin receptors in pancreatic islets - Linking a genetic variant to functional phenotype

    Author : Cecilia Nagorny; Diabetes - molekylär metabolism; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Melatonin receptor; knock out mice; IVGTT; OGTT; ITT; Hyperinsulinemic clamp; MTNR1B; MT2;

    Abstract : Defective insulin secretion and insulin resistance are the two hallmarks of Type 2 Diabetes (T2D). The pathophysiology of the disease is not fully understood but genetic susceptibility for the disease is a new major player in the understanding of the underlying mechanisms. READ MORE

  6. 24. Functional analysis of genetic risk markers

    Author : Jesper Robert Gådin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Regulatory variants are the main factors responsible for genetic predisposition to how e.g. humans react differently to the environment. READ MORE

  7. 25. Molecular genetic studies of colorectal cancer

    Author : Xiaolei Zhou; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Colorectal cancer CRC ; high-penetrance alleles; low-penetrance alleles; autism spectrum disorder ASD ; MSI; microarray; metastasis; hMLH3; APC; MYH; TJP3.;

    Abstract : Colorectal cancer (CRC) is one of the leading causes of morbidity and mortality due to cancer in the Western countries. Epidemiological studies have shown that at least 20-30% of CRCs have a potentially identifiable genetic cause. READ MORE