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
The Use of Bone Biomarkers, Imaging Tools, and Genetic Tests in the Diagnosis of Rare Bone Disorders.
Alsarraf F et al.
Calcified Tissue International, 2025
Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.
Nagar G et al.
Omics : a Journal of Integrative Biology, 2024
Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.
Li L et al.
Orthopaedic Surgery, 2024
A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.
Katagiri T et al.
Nature Communications, 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
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
ALK2 Receptor Kinase Association with FKBP12.6 Is Structurally Conserved with the ALK2-FKBP12 Complex.
Williams E et al.
Biomedicines, 2021
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.
Kaliya-Perumal AK et al.
Disease Models & Mechanisms, 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
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
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
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature.
Al-Haggar M et al.
Case Reports in Genetics, 2013
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
Genetic abnormalities in fibrodysplasia ossificans progressiva.
Miao J et al.
Genes & Genetic Systems, 2012
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.
Barnett CP et al.
American Journal of Medical Genetics. Part A, 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
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
Petrie KA et al.
Plos One, 2009