ACVR1 Function in Health and Disease [PDF]
Cells, 2019 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
Francesc Ventura +2 more
exaly +6 more sources
Helicobacter pylori infection induces DNA double-strand breaks through the ACVR1/IRF3/POLD1 signaling axis to drive gastric tumorigenesis [PDF]
Gut MicrobesHelicobacter pylori (H. pylori) infection plays a pivotal role in gastric carcinogenesis through inflammation-related mechanisms. Activin A receptor type I (ACVR1), known for encoding the type I receptor for bone morphogenetic proteins (BMPs), has been ...
Cong He, Nonghua Lu, Xinbo Xu
exaly +4 more sources
Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1 [PDF]
The Journal of Clinical Investigation, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia.
Senem Aykul +20 more
doaj +3 more sources
Heterotopic Ossification: Molecular Drivers, Subtype-Specific Mechanisms, and Translational Therapeutic Advances [PDF]
BiomoleculesHeterotopic ossification (HO), the pathological formation of mature bone in non-skeletal soft tissues (e.g., muscles, tendons), severely impairs patient mobility and quality of life.
Sihong Chen, Hui Lin
doaj +2 more sources
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva [PDF]
Biomedicines, 2021 Basic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned
Roberto Ravazzolo, Renata Bocciardi
doaj +4 more sources
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues leading to cumulative disability.
Serena Cappato +4 more
doaj +3 more sources
Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H) [PDF]
Case Reports in GeneticsConclusion: This case expands our understanding of the phenotypic diversity of FOP and the functional versatility of ACVR1-mediated bone morphogenetic protein (BMP) signaling.
Kenichi Mishima +6 more
doaj +2 more sources
Biomedicines, 2021 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.
Takenobu Katagiri +2 more
doaj +1 more source
npj Regenerative Medicine, 2022 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease in which extraskeletal (heterotopic) bone forms within tissues such as skeletal muscles, often in response to injury.
Alexandra Stanley +5 more
doaj +1 more source
Biomolecules, 2023 Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive disabling heterotopic ossification (HO) at extra-skeletal sites. Here, we developed adeno-associated virus (AAV)-based gene therapy that suppresses
Yeon-Suk Yang +6 more
doaj +1 more source