Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
复制标题
DOI：
10.3389/fendo.2021.732728
复制
发表时间：
2021
影响因子：
5.2
通讯作者：
Eekhoff EMW
中科院分区：
文献类型：
--
作者：
de Ruiter RD;Smilde BJ;Pals G;Bravenboer N;Knaus P;Schoenmaker T;Botman E;Sánchez-Duffhues G;Pacifici M;Pignolo RJ;Shore EM;van Egmond M;Van Oosterwyck H;Kaplan FS;Hsiao EC;Yu PB;Bocciardi R;De Cunto CL;Longo Ribeiro Delai P;de Vries TJ;Hilderbrandt S;Jaspers RT;Keen R;Koolwijk P;Morhart R;Netelenbos JC;Rustemeyer T;Scott C;Stockklausner C;Ten Dijke P;Triffit J;Ventura F;Ravazzolo R;Micha D;Eekhoff EMW
进行性骨化纤维发育不良（FOP）是一种极为罕见的进行性遗传疾病，发病率为百万分之一。在他们的一生中，FOP患者逐渐在软组织中形成骨骼，导致活动能力增加和早期死亡。2006年，ACVR1基因突变被确定为FOP的致病突变。此后，通过国内外研究小组的努力，FOP的病理生理学得到了进一步的阐明。2015年，举办了一次研讨会，聚集了这些小组，讨论了FOP研究中的新挑战。在这里，我们对这些主题进行概述和更新。
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.