Search for dissertations about: "exon"

Showing result 1 - 5 of 209 swedish dissertations containing the word exon.

  2. 1. Genome and Transcriptome Comparisons between Human and Chimpanzee

    Author : Anna Wetterbom; Ulf Gyllensten; Lucia Cavelier; Tomas Bergström; Evan Eichler; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; human; chimpanzee; genome; transcriptome; comparative studies; exon arrays; next-generation sequencing; premature termination codon; alternative splicing; primate evolution; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Bioinformatik; Bioinformatics;

    Abstract : The chimpanzee is humankind’s closest living relative and the two species diverged ~6 million years ago. Comparative studies of the human and chimpanzee genomes and transcriptomes are of great interest to understand the molecular mechanisms of speciation and the development of species-specific traits. READ MORE

  4. 2. Mechanisms by which variants in the TCF7L2 gene increase the risk of developing Type 2 diabetes

    Author : Yuedan Zhou; diabetes och endokrinologi Genomik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TCF7L2; rs7903146; Type 2 diabetes; β cell function; β cell survival; insulin secretion; proinsulin synthesis; proinsulin-to-insulin conversion; insulin maturation; open chromain; exon skipping; p53; TP53INP1; ISL1; MAFA; NEUROD1; PDX1; NKX6.1; PCSK1; PCSK2; SLC30A8; GWAS.;

    Abstract : Type 2 diabetes mellitus (T2DM) is a heterogeneous disease with a multifactorial aetiology comprising of genetic and environmental factors. The common variant most highly associated with T2DM known to date is a SNP rs7903146 in the TCF7L2 gene. However, the role TCF7L2 plays in the development of T2DM was unclear. READ MORE

  5. 3. Regulation of neurotrophins and their receptors : molecular aspects and functional implications

    Author : Tuija Salin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : neurotrophin; nerve growth factor; brain-derived neurotrophic factor; neurotrophin-3; neurotrophin-4; glia; gliosis; neuron; tyrosine kinase receptor; transgenic; null mutation; gene; exon; intron; mRNA;

    Abstract : The aim of this work was to study the regulation of neurotrophins and their receptors in a functional aspect. The studies included analysis of neuronal and glial neurotrophin gene expression, that was investigated by using molecular biological techniques. READ MORE

  6. 4. Hormone-sensitive lipase: Molecular analyses of the human gene; structural and evolutionary aspects on expression, alternative splicing and cold adaptation

    Author : Henrik Laurell; Institutionen för experimentell medicinsk vetenskap; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; enzymologi; Proteiner; Proteins; enzymology;

    Abstract : Hormone-sensitive lipase (HSL) is a key enzyme in adipose tissue that hydrolyses stored fat (triacylglycerol). The activity of HSL is under strict hormonal and neural control. READ MORE

  7. 5. The immunoglobulin genes in an Actinopterygian fish, the Siberian sturgeon (Acipenser baeri)

    Author : Mats Lundqvist; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Cell and molecular biology; Immunoglobulin genes; gene organization; transmembrane TM ; comparative immunology; Siberian sturgeon Acipenser baerii ; Cell- och molekylärbiologi; Cell and molecular biology; Cell- och molekylärbiologi; Molecular Immunology; molekylär immunologi;

    Abstract : Characterization of the immunoglobulin (Ig) light (L) and heavy (H) chain genes from the Siberiansturgeon, Acipenser baeri, revealed an Ig structure simhar to the IgM elass of mammals. The serumforms of the sturgeon Ig are tetrameric and dimeric. READ MORE