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
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(Version of record, pdf, 1.1MB)
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- Publisher copy:
- 10.1016/j.bone.2018.03.015
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Authors
Funding
+ Japan Society for the Promotion of Science
More from this funder
Funding agency for:
Kuratani, M
Grant:
16K20067
+ Japan Society for the Promotion of Science
More from this funder
Funding agency for:
Katagiri, T
Grant:
17-A-1-01
+ Ministry of Education, Culture, Sports, Science and Technology (MEXT) of Japan
More from this funder
Funding agency for:
Katagiri, T
Grant:
17-A-1-01
+ Japan Society for the Promotion of Science
More from this funder
Funding agency for:
Tsukamoto, S
Grant:
17K11026
Bibliographic Details
- 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:
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1873-2763
- ISSN:
-
8756-3282
- Pmid:
-
29551750
- Source identifiers:
-
831397
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:831397
- UUID:
-
uuid:157ee3ba-4cd8-4798-b061-1aeed3e2fc07
- Local pid:
- pubs:831397
- Deposit date:
- 2018-03-26
Terms of use
- 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/
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