Sökning: "molekylär medicin medicinska vetenskaper"

Visar resultat 6 - 10 av 17 avhandlingar innehållade orden molekylär medicin medicinska vetenskaper.

1. 6. Molecular Targets in Autoimmune Polyendocrine Syndrome Type1 and Their Clinical Implications

   Författare :Mohammad Alimohammadi; Olle Kämpe; Anna Lobell; Fredrik Rorsman; Tommy Olsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; autoantibodies; endocrinology; parathyroid; hypoparathyroidism; Addison s disease; pulmonary symptoms; NALP; NALP5; NLR; KCNRG; Molecular medicine; Molekylär medicin;

   Sammanfattning : Autoimmune diseases occur when the immune system attacks and destroys healthy body tissue. Autoimmunity is known to cause a wide range of disorders, and is suspected to be responsible for many more. Most autoimmune disorders are chronic and cause severe morbidity for the patients, and are also costly for society. LÄS MER

3. 7. Mapping the consequenses of physical exercise and nutrition on human health : A predictive metabolomics approach

   Författare :Elin Chorell; Henrik Antti; Lorraine Brennan; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Metabolomics; physical exercise; cardiorespiratory fitness nutrition; high protein and fat diet; Lactobacillus F19; probiotics; GC-MS; plasma; chemometrics; multivariate analysis statistical experimental design; design of experiments; Chemistry; Kemi; Systems Analysis; systemanalys; näringslära; Nutrition; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

   Sammanfattning : Human health is a complex and wide-ranging subject far beyond nutrition and physical exercise. Still, these factors have a huge impact on global health by their ability to prevent diseases and thus promote health. LÄS MER

4. 8. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

   Författare :Elin Larsson; Monica Holmberg; Geoff Woods; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; monogenic; disease; NGF; receptor; pain insensitivity; ISCU; myopathy; splicing; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

   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. 9. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

   Författare :Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). LÄS MER

7. 10. Pharmacogenomics of Antihypertensive Treatment & Clinical Pharmacological Studies of Digoxin Treatment

   Författare :Pär Hallberg; Håkan Melhus; Ann-Christine Syvänen; Lars Lind; Jiguang Wang; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; pharmacogenomics; irbesartan; atenolol; hypertension; digoxin; RIKS-HIA; atrial fibrillation; heart failure; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : In Part I we found that the CYP2C9 genotype appears to influence the diastolic blood pressure response to the angiotensin II-receptor antagonist irbesartan in patients with hypertension and left ventricular hypertrophy. Those with the *1/*2 genotype (slower metabolism) responded better than those with the *1/*1 genotype (normal metabolism), likely due to a slower elimination of the drug. LÄS MER