Osteogenesis imperfecta and therapeutics.
Osteogenesis imperfecta and therapeutics.
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DOI：
10.1016/j.matbio.2018.03.010
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Morello R
中科院分区：
文献类型：
--
作者：
Morello R
骨质疏松症，或脆骨病，是一种先天性疾病，主要导致低骨量和骨折，但它会对其他器官产生负面影响。它通常以常染色体显性方式遗传，尽管已经确定了罕见的隐性和X染色体连锁形式的疾病。除了I型胶原，在过去几年中已经鉴定了许多其他基因的突变，这些基因通常涉及I型胶原合成或成骨细胞的分化和功能。罕见疾病的研究提供了如此丰富的新信息，有助于我们了解胶原蛋白合成和骨形成的多个过程。在这篇简短的综述中，我将描述这种疾病的临床特征和分子遗传学，然后重点介绍OI如何失调细胞外基质生物学的各个方面。最后，我将讨论OI治疗。
Osteogenesis imperfecta, or brittle bone disease, is a congenital disease that primarily causes low bone mass and bone fractures but it can negatively affect other organs. It is usually inherited in an autosomal dominant fashion, although rarer recessive and X-chromosome-linked forms of the disease have been identified. In addition to type I collagen, mutations in a number of other genes, often involved in type I collagen synthesis or in the differentiation and function of osteoblasts, have been identified in the last several years. Seldom, the study of a rare disease has delivered such a wealth of new information that have helped our understanding of multiple processes involved in collagen synthesis and bone formation. In this short review I will describe the clinical features and the molecular genetics of the disease, but then focus on how OI dysregulates all aspects of extracellular matrix biology. I will conclude with a discussion about OI therapeutics.
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影响因子：
2.9
作者：
Bargman R;Huang A;Boskey AL;Raggio C;Pleshko N
通讯作者：
Pleshko N
影响因子：
9.8
作者：
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通讯作者：
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3.5
作者：
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通讯作者：
Forlino, Antonella
DOI：
10.1056/nejmoa0907705
发表时间：
2010-02-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Barnes AM;Carter EM;Cabral WA;Weis M;Chang W;Makareeva E;Leikin S;Rotimi CN;Eyre DR;Raggio CL;Marini JC
通讯作者：
Marini JC
影响因子：
44.5
作者：
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通讯作者：
Papapoulos, Socrates