2026-04-17T23:25:21Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1682222025-12-05T09:23:07Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Valer, José Antonio author Sánchez de Diego, Cristina author Pimenta-Lopes, Carolina author Rosa López, José Luis author Ventura Pujol, Francesc author 2020-07-09T10:48:14Z 2020-07-09T10:48:14Z 2019-11-01 2020-07-09T10:48:15Z 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. Glioma Displàsia fibrosa òssia Ossificació Càncer Gliomas Fibrous dysplasia of bone Ossification Cancer ACVR1 function in health and disease