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Insights from a Rare Genetic Disorder of Extra-Skeletal Bone Formation Fibrodysplasia Ossificans Progressiva (FOP)

机译：从罕见的骨骼外骨形成遗传性疾病渐进性骨增生（FOP）

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摘要

Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder of extensive and debilitating extra-skeletal bone formation. While the challenges of investigating a rare condition are many, the potential benefits are also great – not only for the specific disease under investigation, but also for the unique perspective on how cells normally function and the mechanisms that underlie more common disorders. This review will illustrate some of the many insights that we have gained by studying FOP.

机译：骨化性纤维增生症（FOP）是一种罕见的人类遗传病，广泛且使人衰弱的骨骼外骨骼形成。尽管研究罕见病的挑战很多，但潜在的好处也很大–不仅对于正在研究的特定疾病，而且对于细胞正常运作的独特观点以及导致更多常见疾病的机制也具有独特的见解。这篇评论将说明我们通过研究FOP获得的许多见解中的一些。

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期刊名称 other
作者
Eileen M. Shore; Frederick S. Kaplan;
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作者单位

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年(卷),期 -1(43),3
年度 -1
页码 427–433
总页数 16
原文格式 PDF
正文语种
中图分类
关键词
ACVR1 ALK2 BMP type I receptor fibrodysplasia ossificans progressiva (FOP) bone morphogenetic protein (BMP);

机译：ACVR1;ALK2;BMP I型受体;骨化性增生性纤维增生（FOP）;骨形态发生蛋白（BMP）;

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专利

1. Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). [J] . Shore EM, Kaplan FS Bone . 2008,第3期

机译：从罕见的骨骼外骨骼形成遗传病（渐进性骨增生性纤维化（FOP））获得的见解。
2. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. [J] . Kaplan FS, Xu M, Seemann P, Human mutation . 2009,第3期

机译：经典和非典型性骨化性纤维增生（FOP）表型是由I型骨形态发生蛋白（BMP）受体ACVR1的突变引起的。
3. Fibrodysplasia ossificans progressiva – A rare genetic disorder and the role of Technetium-99m methylene diphosphonate bone scan [J] . Nitin Gupta, Ankur Pruthi, Suneel Kumar, Indian Journal of Nuclear Medicine . 2019,第3期

机译：骨化性纤维增生症–一种罕见的遗传疾病和and 99m亚甲基二膦酸骨扫描的作用
4. Fibrodysplasia Ossificans Progressiva: Evolving Insights from a Rare Disease [C] . Frederick S. Kaplan, Jaimo Ahn, Eileen M. Shore Falk Symposium . 2002

机译：Fibrodysplasia Ossificans进展：从罕见疾病中断的见解
5. Generation of Induced Pluripotent Stem Cell Derived Endothelial Cells from Fibrodysplasia Ossificans Progressiva Patients - A Disease Model of ActivinA and BMP-Induced ALK2 Receptor Activation =Generierung von Endothelzellen aus induzierten pluripotenten [D] . Hildebrandt, Susanne. 2020

机译：生成诱导多能干细胞衍生的纤维型胰腺类骨质人进化患者的内皮细胞 - Activina和BMP诱导的Alk2受体激活=普通钨患者的疾病模型= Induzierten ploripotenten
6. Fibrodysplasia ossificans progressiva (FOP): A human genetic disorder of extra-skeletal bone formation or - How does one tissue become another? [O] . Eileen M. Shore -1

机译：Fibrodysplasia ossificans进化（FOP）：骨骼骨骼骨骼形成的人类遗传障碍或者 - 一种组织如何成为另一个？
7. Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP) [O] . Eileen M. Shore, Frederick S. Kaplan 2008

机译：来自罕见骨骼骨形成的罕见遗传障碍，纤维单胰腺骨质骨质骨质骨骼进展（FOP）的见解

Insights from a Rare Genetic Disorder of Extra-Skeletal Bone Formation Fibrodysplasia Ossificans Progressiva (FOP)

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