Inherited human diseases of heterotopic bone formation.
Inherited human diseases of heterotopic bone formation.
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DOI：
10.1038/nrrheum.2010.122
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发表时间：
2010-09
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影响因子：
--
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中科院分区：
文献类型：
--
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人类遗传性和非遗传性异位骨化疾病是其中骨生成发生在骨骼外、身体软组织内的病症。由此产生的外骨骼是正常的。畸变存在于调节细胞命运决定的机制中，指导组织如骨骼肌和脂肪组织中软骨或骨或两者的不适当形成。在两种罕见的遗传性疾病中发现了特定的基因突变，这两种疾病的临床特征是广泛的和进行性的骨外骨形成-进行性骨化性纤维发育不良和进行性骨发育不良。在进行性骨化性纤维发育不良中，激活素受体1型（一种骨形态发生蛋白I型受体）的激活突变诱导异位软骨内骨化，这导致功能性骨器官系统的发育，包括骨样骨和骨髓。在进行性骨发育不全中，异位骨化导致主要膜内骨组织的形成，这是对GNAS基因失活突变的响应。患有这些疾病的患者通常表现出正常骨骼元素的畸形，确定致病基因及其相关的信号通路作为骨骼发育的关键介质，除了调节成体干细胞的细胞命运决定。
Human disorders of hereditary and nonhereditary heterotopic ossification are conditions in which osteogenesis occurs outside of the skeleton, within soft tissues of the body. The resulting extraskeletal bone is normal. The aberration lies within the mechanisms that regulate cell-fate determination, directing the inappropriate formation of cartilage or bone, or both, in tissues such as skeletal muscle and adipose tissue. Specific gene mutations have been identified in two rare inherited disorders that are clinically characterized by extensive and progressive extraskeletal bone formation—fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. In fibrodysplasia ossificans progressiva, activating mutations in activin receptor type-1, a bone morphogenetic protein type I receptor, induce heterotopic endochondral ossification, which results in the development of a functional bone organ system that includes skeletal-like bone and bone marrow. In progressive osseous heteroplasia, the heterotopic ossification leads to the formation of mainly intramembranous bone tissue in response to inactivating mutations in the GNAS gene. Patients with these diseases variably show malformation of normal skeletal elements, identifying the causative genes and their associated signaling pathways as key mediators of skeletal development in addition to regulating cell-fate decisions by adult stem cells.
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影响因子：
2
作者：
Adegbite, N. S.;Xu, M.;Kaplan, F. S.;Shore, E. M.;Pignolo, R. J.
通讯作者：
Pignolo, R. J.
DOI：
10.2106/00004623-200312000-00010
发表时间：
2003-12-01
影响因子：
5.3
作者：
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通讯作者：
Shore, EM
影响因子：
2.6
作者：
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通讯作者：
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影响因子：
4
作者：
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通讯作者：
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影响因子：
10.5
作者：
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通讯作者：
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