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Journal article

Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders

Abstract:

Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and heart defects. In this study, we characterized the ALK2 mutants R258G, G328V and F246Y, which were identified in patients with severe FOP, DIPG and unusual hereditary skeletal dysplasia, respectively. Both R258G and...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.bone.2018.03.015

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Funding agency for:
Katagiri, T
Publisher:
Elsevier Publisher's website
Journal:
Bone Journal website
Volume:
111
Pages:
101-108
Publication date:
2018-03-15
Acceptance date:
2018-03-14
DOI:
EISSN:
1873-2763
ISSN:
8756-3282
Pubs id:
pubs:831397
URN:
uri:157ee3ba-4cd8-4798-b061-1aeed3e2fc07
UUID:
uuid:157ee3ba-4cd8-4798-b061-1aeed3e2fc07
Local pid:
pubs:831397

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