نتایج جستجو برای: استیوپتروز osteopetrosis
تعداد نتایج: 909 فیلتر نتایج به سال:
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
The anaemia so frequently found in cases of osteopetrosis in children has been generally regarded as being due to poor development of the bone marrow cavity by failure of absorption and organization of primitive chondro-osteoid tissue (Warkany, 1959; Clifton and Frank, 1959; Aegerter and Kirkpatrick, 1958). In many cases, however, the severity of the anaemia has not corresponded with the radiol...
Mutations in sorting nexin 10 (Snx10) have recently been found to account for roughly 4% of all human malignant osteopetrosis, some of them fatal. To study the disease pathogenesis, we investigated the expression of Snx10 and created mouse models in which Snx10 was knocked down globally or knocked out in osteoclasts. Endocytosis is severely defective in Snx10-deficient osteoclasts, as is extrac...
Loss of the lysosomal ClC-7/Ostm1 2Cl(-)/H(+) exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in mice. Its conversion into a Cl(-) conductance in Clcn7(unc/unc) mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur colour. To elucidate the basis for these phenotypical differences, we generat...
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