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Title: | ACVR1 function in health and disease |
Author: | Valer, José Antonio Sánchez de Diego, Cristina Pimenta-Lopes, Carolina Rosa López, José Luis Ventura Pujol, Francesc |
Keywords: | Glioma Displàsia fibrosa òssia Ossificació Càncer Gliomas Fibrous dysplasia of bone Ossification Cancer |
Issue Date: | 1-Nov-2019 |
Publisher: | MDPI |
Abstract: | Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation. Moreover, ACVR1 has been extensively studied for its causal role in fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by progressive heterotopic ossification. ACVR1 is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. More recently, ACVR1 has been experimentally validated as a cancer driver gene in diffuse intrinsic pontine glioma (DIPG), a malignant childhood brainstem glioma, and its function is being studied in other cancer types. Here, we review ACVR1 receptor function and signalling in physiological and pathological processes and its regulation according to cell type and mutational status. Learning from different functions and alterations linked to ACVR1 is a key step in the development of interdisciplinary research towards the identification of novel treatments for these pathologies. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/cells8111366 |
It is part of: | Cells, 2019, vol. 8, num. 11, p. 1366 |
URI: | http://hdl.handle.net/2445/168222 |
Related resource: | https://doi.org/10.3390/cells8111366 |
ISSN: | 2073-4409 |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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