Sökning: "COL1A2"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet COL1A2.

  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. 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

  4. 3. Genome-wide Characterization of RNA Expression and Processing

    Författare :Ammar Zaghlool; Lars Feuk; Rickard Sandberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RNA sequencing; RNA splicing; RNA processing; Gene expression; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The production of fully mature protein-coding transcripts is an intricate process that involves numerous regulation steps. The complexity of these steps provides the means for multilayered control of gene expression. LÄS MER

  5. 4. Genetic causes and molecular mechanisms underlying rare metabolic bone diseases

    Författare :Alice Costantini; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The skeletal system provides support for the body, enables movement and protects inner organs. Moreover, it supplies blood cells and acts as a reservoir for minerals and fat. Several external factors, including nutrition and long-term illness, influence bone health but genetic factors also play an important role. LÄS MER

  7. 5. Genetic studies of diabetes in northern Sweden

    Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER