Search for dissertations about: "genetic disease"

Showing result 16 - 20 of 1687 swedish dissertations containing the words genetic disease.

  2. 16. On certain genetic and metabolic risk factors for carotid stenosis and stroke

    Author : Pär Wanby; Lars Brudin; Martin Carlsson; Milita Crisby; Linköpings universitet; []
    Keywords : LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Carotid artery diseases; Carrier proteins; genetics; Cerebrovascular accident; Cerebrovascular disorders; Genetic predisposition to disease; Polymorphism; genetic; Medicine; Medicin; Medicin;

    Abstract : The present study evaluated genetic and metabolic factors influencing the risk of acute cerebrovascular disease (CVD) and internal carotid artery stenosis (ICA stenosis) in a Swedish community. The threonine (T) containing protein of the FABP2 A54T gene polymorphism has a greater affinity for long chain fatty acids (FFAs) than the alanine (A) containing protein. READ MORE

  4. 17. Molecular genetic studies on Huntington disease

    Author : Elisabeth Almqvist; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Huntington disease; PCR; predictive testing;

    Abstract : Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with an expanded trinucleotide repeat (CAG). Prior to the gene identification in 1993, linkage analysis was used for predictive testing for at-risk individuals. READ MORE

  5. 18. Genetic investigations of four neurological disorders : From phenotype to mutation

    Author : Anna Sillén; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Abstract : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. READ MORE

  6. 19. Interaction of genetic susceptibility and traffic-related air pollution in cardiovascular disease

    Author : Anna Levinsson; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cardiovascular disease; genetic variants; air pollution; gene-environment interaction;

    Abstract : This thesis aimed at investigating gene-environment interaction in cardiovascular disease (CVD). A study population of 618 coronary heart disease (CHD) cases (of which 192 first-time acute myocardial infarction (AMI) patients) and 3614 randomly selected population controls was genotyped for genetic variants in genes coding for nitric oxide synthase (NOS) and glutathione s-transferase (GST). READ MORE

  7. 20. Genetic studies of zebrafish muscles : clues to protection in muscle disease

    Author : Nils Dennhag; Fatima Pedrosa Domellöf; Jonas von Hofsten; Tatjana Haitina; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; muscle; extraocular muscles; intermediate filaments; bioinformatics; genetics; CRISPR Cas9; oftalmiatrik; ophthalmology; cellforskning; cell research;

    Abstract : Muscular dystrophies (MDs) are caused by dysregulation of over 40 proteins but commonly share features of muscle weakness, myofiber death and regeneration, loss of ambulation and premature death. A MD involves a broken link anywhere in the connection from extracellular matrix through the sarcolemma to the sarcomere. READ MORE