Sökning: "COL1A1"

Visar resultat 1 - 5 av 12 avhandlingar innehållade ordet COL1A1.

  1. 1. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

    Författare :Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; OI; BMD; Genotype; Phenotype; Pharmaco-genetics; Bisphosphonate; Therapy; Gene-therapy; Mutation; Collagen; Collagen type I; Allele-specific silencing; siRNA; RNAi; COL1A1; COL1A2; Stroke; C-propeptide; Mineralization; Heterozygous disadvantage; Genetics; Genetik; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. LÄS MER

  3. 2. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  4. 3. The role of PDGFB in dermatofibrosarcoma protuberans and giant cell fibroblastoma

    Författare :Kevin P O'Brien; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Dermatofibrosarcoma protuberans; giant cell fibroblastoma; translocation; FISH; translocation breakpoint; fusion gene; oncogene; Platelet derived growth factor B-chain; collagen type I alpha 1; tumor formation; autocrine stimulation;

    Sammanfattning : Dermatofibrosarcoma protuberans (DFSP) and giant cell fibroblastoma (GCF) are rare invasive tumors of the dermis. GCF is considered the juvenile form of DFSP. Both DFSP and GCF are characterized by the presence of chromosomal aberrations involving chromosomes 17 and 22. LÄS MER

  5. 4. Fibrosis in the central nervous system : the role of perivascular cells

    Författare :Daniel Holl; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Regeneration in the adult mammalian central nervous system (CNS) is very limited. One limiting factor is the formation of chronic scar tissue, which inhibits axonal regeneration and functional recovery. LÄS MER

  7. 5. Prevalence of dentinogenesis imperfecta and dental aberrations related to genetic findings in osteogenesis imperfecta

    Författare :Kristofer Andersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder, mainly caused by mutations in COL1A1 and COL1A2, the genes encoding collagen type I. The cardinal symptoms include bone fragility and varying degrees of growth retardation. LÄS MER