Sökning: "tissue-specific splicing"
Visar resultat 1 - 5 av 13 avhandlingar innehållade orden tissue-specific splicing.
1. The growth hormone receptor and growth hormone sensitivity in man
Sammanfattning : It is well established that the response to endogenous and exogenous growth hormone (GH) varies between individuals. For example, conditions with increased catabolic rate, such as trauma, sepsis and surgery, are believed to be associated with acquired GH insensitivity. LÄS MER
2. Genetic and functional studies of hereditary myopathy with lactic acidosis
Sammanfattning : 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. LÄS MER
3. The regulation of incorrect splicing of ISCU in hereditary myopathy with lactic acidosis
Sammanfattning : Patients suffering from hereditary myopathy with lactic acidosis (HML) can be found in the northern Swedish counties of Ångermanland and Västerbotten. HML is a rare autosomal recessive disease where patients display a low tolerance to exercise at an early age. LÄS MER
4. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy
Sammanfattning : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. LÄS MER
5. Human α2,3-sialyltransferases. Structure and Function of Alternatively Spliced Transcripts
Sammanfattning : The recruitment of human peripheral blood leukocytes to sites of infection and inflammation requires the surface expression of Sialyl Lewis x glycoconjugates (SLex) on white blood cells and their interaction with E- and P-selectins on activated endothelial cells. Human ST3Gal III, ST3Gal IV and ST3Gal VI genes code for a2,3?sialyltransferases potentially involved in the biosynthesis of the SLex epitope. LÄS MER