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
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 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
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
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
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.
Suthapot P et al.
Cancers, 2023
Recurrent ACVR1 mutations in posterior fossa ependymoma.
Pratt D et al.
Acta Neuropathologica, 2022
Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1.
Aykul S et al.
The Journal of Clinical Investigation, 2022
Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials.
Damodharan S et al.
Journal of Personalized Medicine, 2022
An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
Kaplan FS et al.
American Journal of Medical Genetics. Part A, 2022
Repurposing Vandetanib plus Everolimus for the Treatment of ACVR1-Mutant Diffuse Intrinsic Pontine Glioma.
Carvalho DM et al.
Cancer Discovery, 2022
BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).
Towler OW et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes.
Hasegawa K et al.
Case Reports in Genetics, 2022
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
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
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.
Kaliya-Perumal AK et al.
Disease Models & Mechanisms, 2020
Emerging roles of the αC-β4 loop in protein kinase structure, function, evolution, and disease.
Yeung W et al.
Iubmb Life, 2020
ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.
Sekimata K et al.
Chemical & Pharmaceutical Bulletin, 2020
The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.
Lin H et al.
Bioscience Reports, 2019
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja MR et al.
Systems Biology in Reproductive Medicine, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
ALK2 inhibitors display beneficial effects in preclinical models of ACVR1 mutant diffuse intrinsic pontine glioma.
Carvalho D et al.
Communications Biology, 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
The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva.
Alessi Wolken DM et al.
Bone, 2018
Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva.
Katagiri T et al.
Bone, 2018
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Salloum R et al.
Acta Neuropathologica Communications, 2017
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.
Severino M et al.
Journal of Medical Genetics, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 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
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
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
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