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cherubism/alkaline phosphatase
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7 resultados
Study of the cell biology and biochemistry of cherubism.
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OBJECTIVE
To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any
Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function.
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BACKGROUND
Cherubism is a human genetic disorder that causes bilateral symmetrical enlargement of the maxilla and the mandible in children. It is caused by mutations in SH3BP2. The exact pathogenesis of the disorder is an area of active research. Sh3bp2 knock-in mice were developed by introducing a
Cherubism. Histo-enzymological and ultrastructural study.
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The 3 cases of cherubism reported affected the mandible. They were all studied by means of histo-enzymological and ultrastructural methods. This study demonstrated 3 stages in the morphological evolution of the disease, corroborated by clinical data. The 1st stage was characterized by an osteolytic
Autosomal dominant osteosclerosis: report of a kindred.
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Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. Jaw abnormalities, which
Do anti-angiogenic therapies prevent brain metastases in advanced renal cell carcinoma?
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BACKGROUND
We analyzed renal cell carcinoma (RCC) brain metastasis (BM) risk factors and compared BM occurrence in metastatic RCC (mRCC) treated with or without anti-angiogenic agents (AA).
METHODS
Data from all consecutive metastatic RCC patients (patients) treated in a french cancer center between
Bone markers in craniofacial bone deformations and dysplasias.
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Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone
Idiopathic bilateral central giant cell reparative granuloma of jaws: a case report and literature review.
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OBJECTIVE
The central giant-cell reparative granuloma has been defined as a localized benign but sometimes aggressive osteolytic proliferation consisting of fibrous tissue with hemorrhage and hemosiderin deposits, presence of osteoclast-like giant cells and reactive bone formation. It is a benign
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