[Genetic basis for skeletal disease. Establishment of novel treatments for fibrodysplasia ossificans progressiva (FOP)].
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by progressive heterotopic bone formation in skeletal muscle tissue. In patients with FOP, heterozygous mutations have been identified in the BMP type I receptor, ALK2. This finding stimulates establishment of some animal models of FOP and development of novel treatments for FOP.
Katagiri
Takenobu
T
Division of Pathophysiology, Research Center for Genomic Medicine, Saitama Medical University.
D030201:Activin Receptors, Type I / Q000037:antagonists & inhibitors* / Q000235:genetics*; D000818:Animals; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000502:physiology; D004195:Disease Models, Animal; D015195:Drug Design; D005799:Genes, Dominant; D006801:Humans; D009132:Muscles / Q000473:pathology / Q000502:physiology; D009154:Mutation; D009221:Myositis Ossificans / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D011720:Pyrazoles / Q000627:therapeutic use; D011743:Pyrimidines / Q000627:therapeutic use; D012038:Regeneration; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology
D019485:Bone Morphogenetic Proteins; D011720:Pyrazoles; D011743:Pyrimidines; C516138:dorsomorphin; C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I; D052005:Bone Morphogenetic Protein Receptors, Type I