Sökning: "GENETIC PROFILES"

Visar resultat 1 - 5 av 216 avhandlingar innehållade orden GENETIC PROFILES.

  1. 1. Modelling and genetic correction of liver genetic diseases

    Författare :Mihaela Zabulica; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. LÄS MER

  3. 2. Hereditary Ovarian Cancer mutation frequencies and genetic profiles

    Författare :Susanne Malander; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; array comparative genomic hybridization; MLH1 MLH2 MSh6; HNPCC; Hereditary ovarian cancer; BRCA1 BRCA2; Medicine human and vertebrates ; Medicin människa och djur ;

    Sammanfattning : Ovarian cancer is a leading cause of gynecological cancer death and in Sweden nearly 700 cases are diagnosed annually. Ovarian cancer has one of the highest frequencies of hereditary cancer. LÄS MER

  4. 3. Search for Type 2 Diabetes Susceptibility Genes Using Multiple Approaches

    Författare :Cecilia Lindgren; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single nucleotide polymorphism SNP ; transmission-disequilibrium test TDT ; genetic variation; single strand conformational polymorphism SSCP ; gene expression; insulin; glucose; genome-wide scan; linkage; genetic association; Type 2 diabetes; early onset diabetes EOD ; sekretion; diabetologi; Endokrinologi; diabetology; Endocrinology; secreting systems; signal-to-noise ratio SNR ;

    Sammanfattning : Type 2 diabetes mellitus is a multifactorial disorder characterized by chronic hyperglycemia resulting from pancreatic dysfunction and insulin resistance. It is a common disorder with a complex pattern of inheritance, likely to reflect the influence of multiple genetic and environmental factors on the diabetes risk. LÄS MER

  5. 4. Recurrent Aphthous Stomatitis - A study, with emphasis on host genetics, oral microbiota composition, and immunoregulatory networks

    Författare :Maria Bankvall; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Aphthous stomatitis; Oral mucosa; Oral medicine; Genome-wide association study; Genetic linkage; Association; Genetic polymorphism; Microbiota; Restriction fragment length polymorphism; Antigen-presenting cell; T-lymphocyte; Lymph node; Flow cytometry;

    Sammanfattning : Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal lesions. The aetiology is unknown and currently there is no consensus regarding suitable treatment regimens. LÄS MER

  7. 5. Birch Stem and Wood Traits in Genetic and Silviculture Trials in Southern Sweden

    Författare :Grace Jones; Stergios Adamopoulos; Mateusz Liziniewicz; Mikael Andersson; Sheikh Ali Ahmed; Erkki Verkasalo; Linnéuniversitetet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; acoustic velocity; Betula spp.; dynamic MOE; genetic parameters; grain angle; hardwood; Itrax densitometry; mixed forests; non-destructive testing; stem form; akustisk velocitet; Betula spp.; blandskog; densitometri; genetiska parametrar; icke destruktiva metoder; Itrax; lövträ; skogsodling; stamkvalitet; vedsegenskaper; Forestry and Wood Technology; Skog och träteknik;

    Sammanfattning : Swedish tree species of birch (silver: Betula pendula and downy: B. pubescens) are often neglected during forest management activities, resulting in low value logs. This thesis investigated birch stem characteristics and wood properties important for solid wood products, in genetics and management trials in southern Sweden. LÄS MER