Sökning: "Gene variants"

Visar resultat 21 - 25 av 585 avhandlingar innehållade orden Gene variants.

  1. 21. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER

  3. 22. Inflammasomes : defense guardians in host-microbe defence

    Författare :Berolla Sahdo; Eva Särndahl; Bo Söderquist; Anna Norrby Teglund; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Innate immunity; inflammasome; leukocytes; cytokines; Staphylococcus aureus; Propionibacterium acnes; inflammation; infection; gene variants; polymorphism.; Biomedicin; Biomedicine;

    Sammanfattning : The inflammasomes are emerging as key regulators of the innate immune response as they response to cellular infection, tissue damage and/or stress. Activated inflammasomes provide a signalling platform for caspase-1 activation which subsequently processes the maturation of interleukin (IL)-1β and IL-18, and in addition promotes cell death, named pyroptosis. LÄS MER

  4. 23. 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

  5. 24. Gene x lifestyle interactions in type 2 diabetes mellitus and related traits

    Författare :Ema C Brito; Paul Franks; Aline Meirhaeghe; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene x environment interaction; gene x lifestyle interaction; physical activity; type 2 diabetes; European Youth Heart Study; Malmö Preventive Project; Prevalence and Prediction and Prevention of Diabetes in Botnia; PPARGC1A; CDKN2A B; HNF1B; TCF7L2; FTO; Epidemiology; Epidemiologi; epidemiologi; Epidemiology; genetik; Genetics;

    Sammanfattning :   Background: Type 2 diabetes is thought to result from interactions between genetic and lifestyle factors, but few robust examples exist. The overarching aim of this thesis was to discover such interactions by studying cohorts of white youth and adults from northern Europe in which physical activity, genotypes, and diabetes-related traits or diabetes incidence had been ascertained. LÄS MER

  7. 25. Identification of new disease mechanisms and treatments for type 2 diabetes based on genetic variants and gene expression networks

    Författare :Annika Axelsson; Diabetes - öpatofysiologi; []
    Nyckelord :Type 2 diabetes; insulin; ADRA2A; genotype; gene network analysis; SOX5; drug repositioning; sulforaphane; clinical study; typ 2-diabetes; insulin; ADRA2A; genotyp; gennätverksanalys; SOX5; sulforafan; klinisk studie;

    Sammanfattning : Improved understanding of the disease mechanisms underlying type 2 diabetes (T2D) is needed, and so are new treatments.A new T2D risk variant was recently identified in ADRA2A, which encodes the α2A-adrenergic receptor. LÄS MER