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Defective bone and cartilage development account for a large number of human birth defects annually.
Bone marrow transplantation would replace Ikkei's defective bone marrow, which would allow Ikkei to make new blood cells, give him more energy, stop his frequent nosebleeds and help him better fight infections.
Hypophosphatasia (HPP) is an inherited disorder characterised by defective bone and tooth mineralisation and deficient serum and bone alkaline phosphatase activity, and it results from mutations in alkaline phosphatase (ALPL) encoding tissue-nonspecific alkaline phosphatase (TNAP).
Beyond the source of cells, the creation of superior structures for replacing defective bone and cartilage requires strong research in biomechanical signaling and synthesis of advanced biomaterials to mimic human tissues at the most varied levels.
In an ideal case, the missing or defective bone should be repaired using a living, functional bone graft that corresponds to the exact shape of the bone being replaced or regenerated.
Both probes target a common protein, the tissue non-specific alkaline phosphatase (TNAP, GI 116734717), the deficiency of which is associated with defective bone mineralization in the form of rickets and osteomalacia.
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MDS are clonal malignancies originating from defective bone-marrow-derived HSCs, in which critical driver mutations provide them with a selective advantage.
Similarly, defective osteoclastic bone resorption is evidenced by reduced metaphyseal in-wasting, abnormal diaphyseal cross-section, and increased trabecular bone volume with retention of mineralized cartilage.
This is in compliance with our previous demonstration of a defective postischemic bone marrow mobilization in experimental diabetes (24) and with recent findings showing that a specific form of bone marrow neuropathy accounts for reduced circulating progenitors in a rat type 2 diabetic model (25).
Osteogenic cells migrate to defective alveolar bone regions as part of the regenerative process, where a semi-permeable barrier membrane may assist in regulating the passage of specific biomolecules, such as growth factors that support angiogenesis, cytokines, and other nutrients [19, 24].
Other less frequent clinical features include defective erythropoiesis, bone marrow aplasia, and Hirschsprung disease [ 80, 85].
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