Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0005940 (bone disease)
7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two lethal mutations have been described in the rat: "osteopetrosis" (op) and "toothless" (tl). The op mutant can be cured by normal bone marrow infusion, while the tl mutant cannot. We report here additional data with regard to the tl mutant. The bone disease of the tl rat as in the op rat is associated with a precocious thymic atrophy, but bone lesions are quite different. In addition to classical osteopetrosis, the tl rat displays several features of rickets: broadening of the extremities of long bones, thickening of the epiphyseal plates, presence of osteoid areas. In addition, the persistence of embryonic characters, evidenced by high levels of alpha-fetoprotein, suggests that the developmental defect of bone is part of a more general process.
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PMID:Osteopetro-rickets: a new congenital bone disorder. 616 76

Pathological fracture and metastatic bone disease without pulmonary metastases were the presenting features in three patients ultimately found to have primary hepatocellular carcinoma. In one case immunoperoxidase staining of bone scrapings for alpha-fetoprotein secreting cells contributed directly to the diagnosis.
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PMID:Pathological fracture, bone metastases and primary hepatocellular carcinoma. 620 76