Search for dissertations about: "osteopetrosis"

Found 5 swedish dissertations containing the word osteopetrosis.

2. 1. Towards Gene Therapy of Osteopetrosis

   Author : Maria Askmyr; Avdelningen för molekylärmedicin och genterapi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Haematology; oc oc mice; osteoclast; hematopoietic stem cells; Hematologi; extracellulära vätskor;

   Abstract : The goal in this thesis is development of gene therapy for malignant infantile osteopetrosis (IMO), a rare but severe genetic bone disease. The concept of osteopetrosis implies dysfunction or lack of osteoclasts, the bone resorbing cells in our body, resulting in failure of normal bone breakdown. READ MORE

4. 2. Development of Novel Models for Studying Osteoclasts

   Author : Christian Thudium; Avdelningen för molekylärmedicin och genterapi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Osteoclast; Osteopetrosis; Osteoporosis; Bone; Hematopoiesis; Gene Therapy; Mouse Models; oc oc; RANK KO;

   Abstract : This thesis focuses on developing and characterizing novel models for studying osteoclasts with an emphasis on how mutations abolishing osteoclastic acidification affect osteoclast signaling and bone remodeling, as well as how to treat patients bearing these rare mutations. Bone remodeling is under normal circumstances a tightly balanced process where resorption of bone by osteoclasts is followed by adequate amounts of bone formation by osteoblasts. READ MORE

5. 3. Development of Novel Therapies, Models, and Biomarkers for Osteoclast-Related Diseases

   Author : Henrik Löfvall; Avdelningen för molekylärmedicin och genterapi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Osteopetros; Biomarkör; Cellodling; Extracellulär matrix ECM ; Osteoklast; Osteoclast; Biomarker; Cell culture; Osteopetrosis; Gene Therapy; Extracellular matrix ECM ;

   Abstract : Osteoclasts are derived from hematopoietic stem cells (HSCs) and form upon stimulation of osteoclast precursors by macrophage colony-stimulating factor (M-CSF) and receptor activator of nuclear factor κΒ ligand (RANKL). Osteoclasts resorb bone by secreting hydrochloric acid, matrix metalloproteinases (MMPs) and cathepsin K. READ MORE

6. 4. Targeting the hematopoietic stem cell to correct osteopetrosis

   Author : Carmen Flores Bjurström; Avdelningen för molekylärmedicin och genterapi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hematopoietic stem cells; bone marrow transplantation; gene therapy; osteoclasts; infantile malignant osteopetrosis;

   Abstract : This thesis focuses on developing stem cell targeted gene therapy for the severe hereditary disorder Infantile Malignant Osteopetrosis (IMO) as well as increasing the understanding of how the genetic defect present in IMO affects the hematopoietic stem cells and hematopoiesis in general. IMO is a rare congenital disorder associated with an increased number of non-functional osteoclasts and the absence of bone resorption results in accumulation of sclerotic bone leading to abnormal bone marrow cavity formation insufficient to support hematopoiesis. READ MORE

7. 5. Studies on the phenotype and function of osteoclasts using osteopetrotic and rachitic animal models

   Author : Karin Hollberg; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Bone mineralization; bone resorption; osteoclast; tartrate-resistant acid phosphatase; proteolytic processing; cathepsin K; rickets; osteopetrosis; FGF-23;

   Abstract : Osteoclasts are multinucleated bone-resorbing cells that have been implicated in a variety of skeletal diseases e.g. osteoporosis, rheumatoid arthritis and skeletal metastasis. Under physiological conditions, the osteoclast participates in ossification during longitudinal bone growth as well as in bone remodelling during adulthood. READ MORE