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
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 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
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.
Elhossini RM et al.
Clinical Dysmorphology, 2025
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
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
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
Navigating the Complex Landscape of Fibrodysplasia Ossificans Progressiva: From Current Paradigms to Therapeutic Frontiers.
Anwar S et al.
Genes, 2023
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
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
Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva.
Nikishina IP et al.
Pediatric Rheumatology Online Journal, 2023
Mutational landscape of cancer-driver genes across human cancers.
Sinkala M
Scientific Reports, 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
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T et al.
Journal of Translational Medicine, 2023
Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.
Nagar G et al.
Briefings in Functional Genomics, 2023
Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.
Ajuyah P et al.
Scientific Reports, 2023
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.
Suthapot P et al.
Cancers, 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
Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials.
Damodharan S et al.
Journal of Personalized Medicine, 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
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Cappato S et al.
Molecular Genetics & Genomic Medicine, 2021
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
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
De Brasi D et al.
Genes, 2021
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.
Kazarian E et al.
Scientific Reports, 2021
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 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
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma.
Park C et al.
Cancer Research and Treatment, 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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Electronic DNA Analysis of CSF Cell-free Tumor DNA to Quantify Multi-gene Molecular Response in Pediatric High-grade Glioma.
Bruzek AK et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
The mechanistic GEMMs of oncogenic histones.
Lindroth AM et al.
Human Molecular Genetics, 2020
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
Histone deposition pathways determine the chromatin landscapes of H3.1 and H3.3 K27M oncohistones.
Sarthy JF et al.
Elife, 2020
Tectal Low-Grade Glioma with H3 K27M Mutation.
Sumi K et al.
World Neurosurgery, 2020
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
Li J et al.
Journal of Translational Medicine, 2020
Differential kinase activity of ACVR1 G328V and R206H mutations with implications to possible TβRI cross-talk in diffuse intrinsic pontine glioma.
Cao H et al.
Scientific Reports, 2020