Sökning: "genetic"

Visar resultat 6 - 10 av 4259 avhandlingar innehållade ordet genetic.

1. 6. Molecular genetic studies on cystinuria

   Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

3. 7. Population size, viability and genetic diversity in the orchid Gymnadenia conopsea

   Författare :Linus Söderquist; Nina Sletvold; Sophie Karrenberg; Hans Jacquemyn; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; demography; extinction probability; genetic diversity; genetic rescue; genetic structure; Gymnadenia conopsea; orchid conservation; population viability; population size; Biology with specialization in Ecological Botany; Biologi med inriktning mot ekologisk botanik;

   Sammanfattning : In this thesis, I combined controlled crosses with genetic and demographic data to examine how a main conservation value indicator, population size, was associated with estimates of population viability. I focused on the still common, but decreasing, perennial orchid Gymnadenia conopsea at two spatial scales—locally on the island Öland, in SE Sweden, and regionally across Scandinavia. LÄS MER

4. 8. On the aetiology of ALS : a comprehensive genetic study

   Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

   Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

5. 9. Advances in studying the role of genetic divergence and recombination in adaptation in non-model species

   Författare :Ramprasad Neethiraj; Christopher Wheat; Sören Nylin; Mathieu Joron; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Recombination; Genetic divergence; Lepidoptera; Genetic variation; Genetic diversity; Holocentric chromosomes; cis-regulatory variation; Allele-specific expression; populationsgenetik; Population Genetics;

   Sammanfattning : Understanding the role of genetic divergence and recombination in adaptation is crucial to understanding the evolutionary potential of species since they can directly affect the levels of genetic variation present within populations or species. Genetic variation in the functional parts of the genome such as exons or regulatory regions is the raw material for evolution, because natural selection can only operate on phenotypic variation already present in the population. LÄS MER

7. 10. Male Subfertility and Prostate Cancer Risk: Epidemiological and Genetic Studies

   Författare :Yasir Ruhayel; Malmö Molekylärgenetisk reproduktionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cytoplasmic and nuclear; Receptors; Prostatic neoplasms; genetic; Polymorphism; male; Infertility; Hypogonadism; Genetic association studies; Case–control studies; Androgens;

   Sammanfattning : Androgen action plays a pivotal role in male reproductive tract physiology and pathology. The androgen receptor (AR) gene harbors two codon repeat tracts: the CAG and GGN repeats, encoding corresponding amino acid sequences of variable length; the polyglutamine and polyglycine stretches, respectively. LÄS MER