Sökning: "osteopetrosis"
Hittade 5 avhandlingar innehållade ordet osteopetrosis.
1. Towards Gene Therapy of Osteopetrosis
Sammanfattning : 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. LÄS MER
2. Development of Novel Models for Studying Osteoclasts
Sammanfattning : 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. LÄS MER
3. Development of Novel Therapies, Models, and Biomarkers for Osteoclast-Related Diseases
Sammanfattning : 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. LÄS MER
4. Targeting the hematopoietic stem cell to correct osteopetrosis
Sammanfattning : 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. LÄS MER
5. Studies on the phenotype and function of osteoclasts using osteopetrotic and rachitic animal models
Sammanfattning : 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. LÄS MER