Sökning: "functional association"

Visar resultat 21 - 25 av 505 avhandlingar innehållade orden functional association.

  1. 21. Functional genetics of the interleukin-4 receptors in allergic asthma

    Författare :Ann-Marie Bergin; Göteborgs universitet; []
    Nyckelord :Asthma; association study; candidate genes; IL4R; CIITA; alternative splicing; minigene;

    Sammanfattning : Asthma is a complex disorder, with both genetic and environmental factors contributing to disease development. Our aim was to analyse possible associations between genetic variations of immunologically important genes and the susceptibility to and severity of allergic asthma in adults. LÄS MER

  3. 22. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Författare :Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. LÄS MER

  4. 23. Heritability of blood pressure: monogenes and polygenes

    Författare :Cristiano Fava; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Biomedicinska vetenskaper; Biomedical sciences; kidney; Adducin-1; CLC-kb; Gitelman syndrome; association; heritabilty; genetics; hypertension; Blood pressure; blood pressure variability; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : High blood pressure (BP) is associated with cardiovascular morbidity and mortality. Both genetic and environmental factors are implicated in BP homeostatsis and hypertension development. LÄS MER

  5. 24. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

  7. 25. Functional genomics approaches to dissect causal DNA variations in obesity and type 2 diabetes

    Författare :Mi Huang; Genetisk och molekylär epidemiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Obesity; Type 2 diabetes; CRISPR Cas9; precision medicine; adipocytes; functional genomics;

    Sammanfattning : GWAS studies have identified hundreds of loci that associate with obesity and type 2 diabetes. However, the functional relevance of the genetic variants, and their impact on disease or traits, is largely unknown. LÄS MER