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Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension
Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397398/ https://www.ncbi.nlm.nih.gov/pubmed/28480048 http://dx.doi.org/10.1038/hgv.2017.10 |
| _version_ | 1783230237755047936 |
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| author | Hara, Hironori Takeda, Norifumi Morita, Hiroyuki Hatano, Masaru Amiya, Eisuke Maki, Hisataka Minatsuki, Shun Taki, Mizuri Shiraishi, Yasuyuki Fujiwara, Takayuki Maemura, Sonoko Komuro, Issei |
| author_facet | Hara, Hironori Takeda, Norifumi Morita, Hiroyuki Hatano, Masaru Amiya, Eisuke Maki, Hisataka Minatsuki, Shun Taki, Mizuri Shiraishi, Yasuyuki Fujiwara, Takayuki Maemura, Sonoko Komuro, Issei |
| author_sort | Hara, Hironori |
| collection | PubMed |
| description | Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation. |
| format | Online Article Text |
| id | pubmed-5397398 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-53973982017-05-05 Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension Hara, Hironori Takeda, Norifumi Morita, Hiroyuki Hatano, Masaru Amiya, Eisuke Maki, Hisataka Minatsuki, Shun Taki, Mizuri Shiraishi, Yasuyuki Fujiwara, Takayuki Maemura, Sonoko Komuro, Issei Hum Genome Var Data Report Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation. Nature Publishing Group 2017-04-20 /pmc/articles/PMC5397398/ /pubmed/28480048 http://dx.doi.org/10.1038/hgv.2017.10 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| spellingShingle | Data Report Hara, Hironori Takeda, Norifumi Morita, Hiroyuki Hatano, Masaru Amiya, Eisuke Maki, Hisataka Minatsuki, Shun Taki, Mizuri Shiraishi, Yasuyuki Fujiwara, Takayuki Maemura, Sonoko Komuro, Issei Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title | Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title_full | Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title_fullStr | Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title_full_unstemmed | Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title_short | Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension |
| title_sort | three novel bmpr2 mutations associated with advanced pulmonary arterial hypertension |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397398/ https://www.ncbi.nlm.nih.gov/pubmed/28480048 http://dx.doi.org/10.1038/hgv.2017.10 |
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