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
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
H3K27M mutant glioma: Disease definition and biological underpinnings.
Saratsis AM et al.
Neuro-oncology, 2024
Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.
Li L et al.
Orthopaedic Surgery, 2024
Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.
Kresak JL et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 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
Recurrent ACVR1 mutations in posterior fossa ependymoma.
Pratt D et al.
Acta Neuropathologica, 2022
Repurposing Vandetanib plus Everolimus for the Treatment of ACVR1-Mutant Diffuse Intrinsic Pontine Glioma.
Carvalho DM et al.
Cancer Discovery, 2022
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
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
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva.
Ravazzolo R et al.
Biomedicines, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.
Sekimata K et al.
Chemical & Pharmaceutical Bulletin, 2020
Signal Transduction in Diffuse Intrinsic Pontine Glioma.
Duchatel RJ et al.
Proteomics, 2019
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
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 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
[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].
Paysal J et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.
Severino M et al.
Journal of Medical Genetics, 2016
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
Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.
Hoffman LM et al.
Acta Neuropathologica Communications, 2016
Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.
Castel D et al.
Acta Neuropathologica, 2015
New insights into central nervous system involvement in FOP: Case report and review of the literature.
Bertamino M et al.
American Journal of Medical Genetics. Part A, 2015
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
Unique genetic and epigenetic mechanisms driving paediatric diffuse high-grade glioma.
Jones C et al.
Nature Reviews. Cancer, 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
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
Fontebasso AM et al.
Nature Genetics, 2014
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G 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
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
Clinicopathology of diffuse intrinsic pontine glioma and its redefined genomic and epigenomic landscape.
Panditharatna E et al.
Cancer Genetics, 0