Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders
Activin receptor-like kinase 2 (ALK2), also known as Activin A receptor type 1 (ACVR1), is a transmembrane kinase receptor for members of the transforming growth factor-β family. Wild-type ALK2/ACVR1 transduces osteogenic signaling in response to ligand binding. Fifteen years ago, a gain-of-function...
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| Format: | Article |
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MDPI AG
2021-06-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/9/7/736 |
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| author | Takenobu Katagiri Sho Tsukamoto Mai Kuratani |
| author_facet | Takenobu Katagiri Sho Tsukamoto Mai Kuratani |
| author_sort | Takenobu Katagiri |
| collection | DOAJ |
| description | Activin receptor-like kinase 2 (ALK2), also known as Activin A receptor type 1 (ACVR1), is a transmembrane kinase receptor for members of the transforming growth factor-β family. Wild-type ALK2/ACVR1 transduces osteogenic signaling in response to ligand binding. Fifteen years ago, a gain-of-function mutation in the <i>ALK2/ACVR1</i> gene was detected in patients with the genetic disorder fibro-dysplasia ossificans progressiva, which is characterized by heterotopic ossification in soft tissues. Additional disorders, such as diffuse intrinsic pontin glioma, diffuse idiopathic skeletal hyperostosis, primary focal hyperhidrosis, and congenital heart defects, have also been found to be associated with ALK2/ACVR1. These findings further expand in vitro and in vivo model system research and promote our understanding of the molecular mechanisms of the pathogenesis and development of novel therapeutics and diagnosis for disorders associated with ALK2/ACVR1. Through aggressive efforts, some of the disorders associated with ALK2/ACVR1 will be overcome in the near future. |
| first_indexed | 2024-03-10T10:01:30Z |
| format | Article |
| id | doaj.art-44cd7a6c950c4f8e86851d1446896d6e |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-10T10:01:30Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-44cd7a6c950c4f8e86851d1446896d6e2023-11-22T01:53:51ZengMDPI AGBiomedicines2227-90592021-06-019773610.3390/biomedicines9070736Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human DisordersTakenobu Katagiri0Sho Tsukamoto1Mai Kuratani2Research Center for Genomic Medicine, Division of Biomedical Sciences, Saitama Medical University, Hidaka-shi, Saitama 350-1241, JapanResearch Center for Genomic Medicine, Division of Biomedical Sciences, Saitama Medical University, Hidaka-shi, Saitama 350-1241, JapanResearch Center for Genomic Medicine, Division of Biomedical Sciences, Saitama Medical University, Hidaka-shi, Saitama 350-1241, JapanActivin receptor-like kinase 2 (ALK2), also known as Activin A receptor type 1 (ACVR1), is a transmembrane kinase receptor for members of the transforming growth factor-β family. Wild-type ALK2/ACVR1 transduces osteogenic signaling in response to ligand binding. Fifteen years ago, a gain-of-function mutation in the <i>ALK2/ACVR1</i> gene was detected in patients with the genetic disorder fibro-dysplasia ossificans progressiva, which is characterized by heterotopic ossification in soft tissues. Additional disorders, such as diffuse intrinsic pontin glioma, diffuse idiopathic skeletal hyperostosis, primary focal hyperhidrosis, and congenital heart defects, have also been found to be associated with ALK2/ACVR1. These findings further expand in vitro and in vivo model system research and promote our understanding of the molecular mechanisms of the pathogenesis and development of novel therapeutics and diagnosis for disorders associated with ALK2/ACVR1. Through aggressive efforts, some of the disorders associated with ALK2/ACVR1 will be overcome in the near future.https://www.mdpi.com/2227-9059/9/7/736activin receptor-like kinase 2 (ALK2)activin a receptortype I (ACVR1)genetic disorderanimal model |
| spellingShingle | Takenobu Katagiri Sho Tsukamoto Mai Kuratani Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders Biomedicines activin receptor-like kinase 2 (ALK2) activin a receptor type I (ACVR1) genetic disorder animal model |
| title | Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders |
| title_full | Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders |
| title_fullStr | Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders |
| title_full_unstemmed | Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders |
| title_short | Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders |
| title_sort | accumulated knowledge of activin receptor like kinase 2 alk2 activin a receptor type 1 acvr1 as a target for human disorders |
| topic | activin receptor-like kinase 2 (ALK2) activin a receptor type I (ACVR1) genetic disorder animal model |
| url | https://www.mdpi.com/2227-9059/9/7/736 |
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