Associated Papers
Human iPSCs as Model Systems for BMP-Related Rare Diseases.
Sánchez-Duffhues G et al.
Cells, 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
Recurrent ACVR1 mutations in posterior fossa ependymoma.
Pratt D et al.
Acta Neuropathologica, 2022
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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.
Matsuoka M et al.
Bone, 2020
Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva.
Katagiri T et al.
Bone, 2018
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
Dominant-negative ALK2 allele associates with congenital heart defects.
Smith KA et al.
Circulation, 2009
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