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
Hyperactive BMP and Mechanosignaling Remodel Chromatin to Drive Aberrant Osteogenesis in FOP.
Zhang EY et al.
Biorxiv : the Preprint Server for Biology, 2026
Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.
Rosenberg NM et al.
Pharmaceutics, 2025
Discovery and Characterization of Zilurgisertib, a Potent and Selective Inhibitor of Activin Receptor-like Kinase‑2 (ALK2) for the Treatment of Fibrodysplasia Ossificans Progressiva.
Ullrich T et al.
Acs Medicinal Chemistry Letters, 2025
Proceedings of the 16th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal.
Unknown Author
Journal of Neonatal-perinatal Medicine, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Acvr2b receptors transduce all BMP signaling in the zebrafish gastrula and restrict Fibrodysplasia Ossificans Progressiva ACVR1-R206H signaling in a dose-dependent manner.
Patel JH et al.
Biorxiv : the Preprint Server for Biology, 2025
A new BMP type 1 receptor kinase inhibitor for safe and efficient oral treatment to prevent genetically induced heterotopic ossification in mice.
Yang J et al.
Bone, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
CryoEM structure of ALK2:BMP6 reveals distinct mechanism that allow ALK2 to interact with both BMP and activin ligands.
Goebel EJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Atypical Fibrodysplasia Ossificans Progressiva in a child: A case report.
Noufal A et al.
International Journal of Surgery Case Reports, 2025
Ectopic pseudojoints in fibrodysplasia ossificans progressiva.
Pignolo RJ et al.
Jbmr Plus, 2025
Atypical Fibrodysplasia Ossificans Progressiva with G328E Variant and Digit Reduction Abnormalities: A Report of 2 Cases.
Madhuri V et al.
Jbjs Case Connector, 2025
Combined rapamycin and mesenchymal stem/stromal cells derived from induced pluripotent stem cells-mediated delivery of ACVR2B-Fc fusion protein reduces heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.
Gao P et al.
Jbmr Plus, 2025
Thoracic Deformity in Fibrodysplasia Ossificans Progressiva.
Kaplan FS et al.
Jbjs Reviews, 2025
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.
Elhossini RM et al.
Clinical Dysmorphology, 2025
Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model.
Cacco T et al.
Jbmr Plus, 2025
Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions.
Coculo L et al.
Cell Death Discovery, 2025
All Restricted Spines are not Spondyloarthritis: Fibrodysplasia Ossificans Progressiva (FOP) in Monozygotic Twins presenting to Rheumatology Clinic.
Jha A et al.
Mediterranean Journal of Rheumatology, 2025
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
Fibrodysplasia ossificans progressiva emerges from obscurity.
Kaplan FS et al.
Trends in Molecular Medicine, 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
Discoidin domain receptor 2 is an important modulator of BMP signaling during heterotopic bone formation.
Wu F et al.
Bone Research, 2025
BMP-9 mediates fibroproliferation in fibrodysplasia ossificans progressiva through TGF-β signaling.
Zhao C et al.
Embo Molecular Medicine, 2025
Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva.
Maruyama R et al.
Methods in Molecular Biology (clifton, N.j.), 2025
ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report.
Yang F et al.
Frontiers in Pediatrics, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Therapeutic development approaches to treat haploinsufficiency diseases: restoring protein levels.
Evans EF et al.
Drug Discovery Today, 2024
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Discovery of highly potent and ALK2/ALK1 selective kinase inhibitors using DNA-encoded chemistry technology.
Jimmidi R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
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
Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.
Yang S et al.
Orphanet Journal of Rare Diseases, 2024
A pontine-specific axonal niche supports de novo gliomagenesis.
Xie Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.
Zheng Q et al.
Nature Chemical Biology, 2024
Molecular Developmental Biology of Fibrodysplasia Ossificans Progressiva: Measuring the Giant by Its Toe.
Towler OW et al.
Biomolecules, 2024
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.
Gupta A et al.
Indian Journal of Pediatrics, 2024
Primary cilia mediate skeletogenic BMP and Hedgehog signaling in heterotopic ossification.
He K et al.
Science Translational Medicine, 2024
Fibrodysplasia Ossificans Progressiva: A Man Turned to Stone.
Kurtanović N et al.
Cureus, 2024
An ALK2 inhibitor, BLU-782, prevents heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.
Davis AJ et al.
Science Translational Medicine, 2024