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
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
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
A pontine-specific axonal niche supports de novo gliomagenesis.
Xie Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.
Gupta A et al.
Indian Journal of Pediatrics, 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
The roles and regulatory mechanisms of TGF-β and BMP signaling in bone and cartilage development, homeostasis and disease.
Wu M et al.
Cell Research, 2024
Navigating the Complex Landscape of Fibrodysplasia Ossificans Progressiva: From Current Paradigms to Therapeutic Frontiers.
Anwar S et al.
Genes, 2023
Human iPSCs as Model Systems for BMP-Related Rare Diseases.
Sánchez-Duffhues G et al.
Cells, 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
Recurrent ACVR1 mutations in posterior fossa ependymoma.
Pratt D et al.
Acta Neuropathologica, 2022
Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials.
Damodharan S et al.
Journal of Personalized Medicine, 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
Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.
Mori S et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 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
Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva.
Khan F et al.
Biomedicines, 2021
A Three-Generation Pedigree of Multifocal Heterotopic Ossification With Bilateral Involvement.
Liu Y et al.
Orthopedics, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 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: 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
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
The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.
Lin H et al.
Bioscience Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
ALK2 inhibitors display beneficial effects in preclinical models of ACVR1 mutant diffuse intrinsic pontine glioma.
Carvalho D et al.
Communications Biology, 2019
Recent Topics in Fibrodysplasia Ossificans Progressiva.
Katagiri T et al.
Endocrinology and Metabolism (seoul, Korea), 2018
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
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
Mutational heterogeneity in non-serous ovarian cancers.
Teer JK et al.
Scientific Reports, 2017
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.
Severino M et al.
Journal of Medical Genetics, 2016
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Zhao B et al.
Plos Genetics, 2016