- 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...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(pdf, 1.1MB)
-
- 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:
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8756-3282
- Pubs id:
-
pubs:831397
- URN:
-
uri:157ee3ba-4cd8-4798-b061-1aeed3e2fc07
- UUID:
-
uuid:157ee3ba-4cd8-4798-b061-1aeed3e2fc07
- Local pid:
- pubs:831397
- Copyright holder:
- © 2018 Machiya, et al. Published by Elsevier Inc.
- Copyright date:
- 2018
- Notes:
- This is an Open Access article published under a Creative Commons license, see: https://creativecommons.org/licenses/by-nc-nd/4.0/
Journal article
Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders
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+ Ministry of Education, Culture, Sports, Science and Technology (MEXT) of Japan
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