Sökning: "gene mutation"

Visar resultat 11 - 15 av 724 avhandlingar innehållade orden gene mutation.

  1. 11. Disease-causing Keratin Mutations and Cytoskeletal Dysfunction in Human Skin : In vitro Models and new Pharmacologic Strategies for Treating Epidermolytic Genodermatoses

    Författare :Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidermolysis bullosa simplex; epidermolytic ichthyosis; genodermatoses; keratin; keratin mutation; keratinocytes; gene therapy; pharmacological therapy; immortalization; gene regulation; trimethylamine N-oxide TMAO ; sodium 4-phenylbutyrate 4-PBA ; tissue engineering; cell culture; heat shock proteins; MAP kinases; Dermatology and venerology; Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

    Sammanfattning : Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal (KRT5 or KRT14) and suprabasal (KRT1 or KRT10) keratin genes,  respectively. Despite vast knowledge in the disease pathogenesis, the pathomechanisms are not fully understood, and no effective remedies exist. LÄS MER

  3. 12. RNA Sequencing for Molecular Diagnostics in Breast Cancer

    Författare :Christian Brueffer; Translational Oncogenomics; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Cancer; Breast Cancer; RNA sequencing; Gene Expression; Mutation; Biomarker; SCAN-B; Diagnostics; Precision Medicine;

    Sammanfattning : Breast cancer is the most common type of cancer in women and, in Sweden, is the most deadly second only to lung cancer. While treatment and diagnostic options have improved in the past decades and short- to mid-term survival is good, long-term survival is much poorer. LÄS MER

  4. 13. Hypospadias : gene mapping and candidate gene studied

    Författare :Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. LÄS MER

  5. 14. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

    Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

  7. 15. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

    Författare :Christina Hellerud; Göteborgs universitet; []
    Nyckelord :contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

    Sammanfattning : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. LÄS MER