Results 11 to 20 of about 4,120 (178)
The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression. [PDF]
PLoS ONE, 2012 BACKGROUND: The ACVR1/Alk-2 gene, encoding a BMP type I receptor, is mutated in Fibrodysplasia Ossificans Progressiva, a severe form of heterotopic ossification. Regulation of ACVR1/Alk-2 expression, still poorly understood, is likely to be controlled by
Marzia Mura +4 more
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Neofunction of ACVR1 in fibrodysplasia ossificans progressiva [PDF]
Proceedings of the National Academy of Sciences, 2015 Significance By utilizing patient-specific induced pluripotent stem cells (iPSCs) of fibrodysplasia ossificans progressiva (FOP) and gene-corrected (rescued) FOP-iPSCs, we discovered a novel mechanism in ectopic bone formation: The disease-causing mutation endows ACVR1 with the ability to transmit the signal of an unexpected ligand ...
Kyosuke, Hino +10 more
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eLife, 2020 Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder characterized by altered skeletal development and extraskeletal ossification.
Robyn S Allen +3 more
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ACVR1 (activin A receptor, type I) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013 Review on ACVR1 (activin A receptor, type I), with data on DNA, on the protein encoded, and where the gene is implicated.
Rainho, CA, Rogatto, SR
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Variable signaling activity by FOP ACVR1 mutations [PDF]
Bone, 2018 Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. However, additional mutations within the ACVR1 BMP type I receptor have been identified in a small number of FOP cases, often in patients with disease of lesser or greater severity than ...
Julia, Haupt, Meiqi, Xu, Eileen M, Shore
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Fibrodysplasia ossificans progressiva: current concepts from bench to bedside
Disease Models & Mechanisms, 2020 Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood.
Arun-Kumar Kaliya-Perumal +2 more
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ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis
Cancers, 2023 Activin receptor type I (ACVR1) is a transmembrane kinase receptor belonging to bone morphogenic protein receptors (BMPs). ACVR1 plays an important role in hematopoiesis and anemia via the BMP6/ACVR1/SMAD pathway, which regulates expression of hepcidin, the master regulator of iron homeostasis.
Andrea Duminuco +5 more
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Single-cell omics reveals the role of ACVR1 in odontoblastic differentiation [PDF]
口腔疾病防治Objective To investigate the impact of activin receptor type-1 (ACVR1) on odontoblastic differentiation and dentin formation based on single-cell RNA sequencing. Methods A correlation analysis of ACVR1 with odontogenesis-related transcription factors was
SONG Shaoyi, LIU Cangwei, SHI CE, LIU Qilin, SUN Hongchen
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eLife, 2020 Activin A functions in BMP signaling in two ways: it either engages ACVR1B to activate Smad2/3 signaling or binds ACVR1 to form a non-signaling complex (NSC).
Senem Aykul +19 more
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Modeling the ACVR1R206H mutation in human skeletal muscle stem cells
eLife, 2021 Abnormalities in skeletal muscle repair can lead to poor function and complications such as scarring or heterotopic ossification (HO). Here, we use fibrodysplasia ossificans progressiva (FOP), a disease of progressive HO caused by ACVR1R206H (Activin ...
Emilie Barruet +7 more
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