ArticleBone2011
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Article in Bone, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Understanding Tendons: Lessons from Transgenic Mouse Models.Stem cells and development · 2018Pooled it
- Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.Journal of applied genetics · 2026Review
- A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.Nature communications · 2023Article
- Protocol paper: a multi-center, double-blinded, randomized, 6-month, placebo-controlled study followed by 12-month open label extension to evaluate the safety and efficacy of Saracatinib in Fibrodysplasia Ossificans Progressiva (STOPFOP).BMC musculoskeletal disorders · 2022Article
- Review
- Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.Biomedicines · 2021Review
- Insight into Molecular Mechanism for Activin A-Induced Bone Morphogenetic Protein Signaling.International journal of molecular sciences · 2020Article
- Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China.World journal of pediatrics : WJP · 2020Article
- ACVR1 Function in Health and Disease.Cells · 2019Review
- The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.Bioscience reports · 2019Review
- Recent Topics in Fibrodysplasia Ossificans Progressiva.Endocrinology and metabolism (Seoul, Korea) · 2018Review
- Review
- Article
- Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.Cytokine & growth factor reviews · 2016Review
- TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.Bone research · 2016Review
- The biological function of type I receptors of bone morphogenetic protein in bone.Bone research · 2016Review
- Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.Human genome variation · 2015Article
- TGF-β/BMP signaling and other molecular events: regulation of osteoblastogenesis and bone formation.Bone research · 2015Review
- Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants.Journal of medicinal chemistry · 2014Article
- Molecular and cellular mechanisms of heterotopic ossification.Histology and histopathology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G > A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. Here we describe a novel c.587 T > C mutation in the glycine/serine-rich domain of ACVR1, associated with delayed onset of heterotopic ossification and an exceptionally mild clinical course. Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral camptodactyly of the 5th fingers, together with a novel ACVR1 mutation, are consistent with the 'FOP-variant' syndrome. The c.587 T > C mutation replaces a conserved leucine with proline at residue 196. Modelling of the mutant protein reveals a steric clash with the kinase domain that will weaken interactions with FKBP12 and induce exposure of the glycine/serine-rich repeat. The mutant receptor is predicted to be hypersensitive to ligand stimulation rather than being constitutively active, consistent with the mild clinical phenotype. This case extends our understanding of the 'FOP-variant' syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.