Search for dissertations about: "infantile malignant osteopetrosis"

Found 3 swedish dissertations containing the words infantile malignant osteopetrosis.

2. 1. 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

4. 2. 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

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