Associated Papers
Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.
Szoszkiewicz A et al.
Journal of Applied Genetics, 2026
An ALK2 inhibitor, BLU-782, prevents heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.
Davis AJ et al.
Science Translational Medicine, 2024
A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.
Katagiri T et al.
Nature Communications, 2023
Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.
Nagar G et al.
Briefings in Functional Genomics, 2023
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Cappato S et al.
Molecular Genetics & Genomic Medicine, 2021
Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.
Katagiri T et al.
Biomedicines, 2021
Fibrodysplasia ossificans progressiva in a young adult with genetic mutation: Case report.
Wang Z et al.
Medicine, 2021
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.
Kaliya-Perumal AK et al.
Disease Models & Mechanisms, 2020
Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.
Matsuoka M et al.
Bone, 2020
Differential kinase activity of ACVR1 G328V and R206H mutations with implications to possible TβRI cross-talk in diffuse intrinsic pontine glioma.
Cao H et al.
Scientific Reports, 2020
Fibrodysplasia ossificans progressiva: Review and research activities in Japan.
Haga N et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.
Sekimata K et al.
Chemical & Pharmaceutical Bulletin, 2020
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
Gupta A et al.
American Journal of Medical Genetics. Part A, 2019
The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.
Lin H et al.
Bioscience Reports, 2019
Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders.
Machiya A et al.
Bone, 2018
Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva.
Katagiri T et al.
Bone, 2018
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.
Cappato S et al.
International Journal of Molecular Sciences, 2018
Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.
Pacifici M et al.
Cytokine & Growth Factor Reviews, 2016
Classical and atypical Fibrodysplasia Ossificans Progressiva in India.
Madhuri V et al.
Annals of Human Genetics, 2015
Mutant activin-like kinase 2 in fibrodysplasia ossificans progressiva are activated via T203 by BMP type II receptors.
Fujimoto M et al.
Molecular Endocrinology (baltimore, Md.), 2015
Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants.
Mohedas AH et al.
Journal of Medicinal Chemistry, 2014
ACVR1 mutations in DIPG: lessons learned from FOP.
Taylor KR et al.
Cancer Research, 2014
Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.
Hüning I et al.
Molecular Syndromology, 2014
ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.
Nakahara Y et al.
American Journal of Medical Genetics. Part A, 2014
Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.
Chaikuad A et al.
The Journal of Biological Chemistry, 2012
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects.
Morales-Piga A et al.
Bone, 2012
Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Hyperactive BMP signaling induced by ALK2(R206H) requires type II receptor function in a Drosophila model for classic fibrodysplasia ossificans progressiva.
Le VQ et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2012
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
Ohte S et al.
Biochemical and Biophysical Research Communications, 2011
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.
Gregson CL et al.
Bone, 2011
[Cytokines in bone diseases. BMP signaling and fibrodysplasia ossificans progressiva].
Katagiri T et al.
Clinical Calcium, 2010