Search for dissertations about: "intron mutation"

Showing result 1 - 5 of 32 swedish dissertations containing the words intron mutation.

  2. 1. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

    Author : Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Abstract : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. READ MORE

  4. 2. Genetic and functional studies of hereditary myopathy with lactic acidosis

    Author : Angelica Nordin; Monica Holmberg; Anders Oldfors; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary myopathy with lactic acidosis; ISCU; intron mutation; mouse model; tissue-specific splicing; medicinsk genetik; Medical Genetics;

    Abstract : Hereditary myopathy with lactic acidosis (HML, OMIM#255125) is an autosomal recessive disorder which originates from Västerbotten and Ångermanland in the Northern part of Sweden. HML is characterized by severe exercise intolerance which manifests with tachycardia, dyspnea, muscle pain, cramps, elevated lactate and pyruvate levels, weakness and myoglobinuria. READ MORE

  5. 3. Rates and Patterns of Mutation in Microsatellite DNA

    Author : Jesper Brohede; Christian Schlötterer; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; evolutionär genetik; evolutionär genetik;

    Abstract : Sequence comparisons of orthologous microsatellite loci in cattle and sheep revealed that the substitution rate in microsatellite flanking sequences does not differ from the rate in presumably neutrally evolving intron sequences. This suggests that microsatellites are generally located in regions that are not subjected to selection. READ MORE

  6. 4. Basal lamina genes affected in leiomyomatosis and congenital muscular dystrophy : structure and mutation analyses of the collagen COL4A6 and laminin LAMA2 genes

    Author : Xu Zhang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Basal laminae (basement membranes) are flexible thin sheets of specialized extracellular matrix separating organ cells from the underlying or surrounding connective tissues. They are found beneath epithelial and endothelial cells amd surrounding different cells, such as muscle fibers and nerves. READ MORE

  7. 5. Welander distal myopathy : gene mapping and analysis of candidate genes

    Author : Désirée von Tell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander Distal Myopathy; 2p13; linkage; candidate genes; founder mutation; mutation screening.;

    Abstract : Distal myopathies constitute of a very heterogeneous group of muscular disorders. Distal myopathies have previously been classified according to features such as; clinical symptoms, age of onset and histopathological changes. READ MORE