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
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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 fibrodysplasia ossificans progressiva patient with a rare missense mutation in ACVR1 detected on 18F-FDG PET/CT.
Ni H et al.
Joint Bone Spine, 2024
Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.
Li L et al.
Orthopaedic Surgery, 2024
Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.
Allen RS et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
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
Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Moreira C et al.
Boletin Medico Del Hospital Infantil De Mexico, 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
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant.
Martín-García D et al.
American Journal of Medical Genetics. Part A, 2021
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
De Brasi D et al.
Genes, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.
Kaliya-Perumal AK et al.
Disease Models & Mechanisms, 2020
Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish.
Allen RS et al.
Elife, 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
Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.
Mucha BE 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
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
Kaplan FS et al.
American Journal of Medical Genetics. Part A, 2015
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
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
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
Fontebasso AM et al.
Nature Genetics, 2014
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
Taylor KR et al.
Nature Genetics, 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: 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
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
Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.
Guo H et al.
Clinical Dysmorphology, 2010
[Cytokines in bone diseases. BMP signaling and fibrodysplasia ossificans progressiva].
Katagiri T et al.
Clinical Calcium, 2010
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS et al.
Human Mutation, 2009
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP).
Lucotte G et al.
Genetic Counseling (geneva, Switzerland), 2007