Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Inhibition of PRC2 Activity by a Gain-of-Function H3 Mutation Found in Pediatric Glioblastoma

(2013) P. W. Lewis et al.   SCIENCE

Structure of the Bone Morphogenetic Protein Receptor ALK2 and Implications for Fibrodysplasia Ossificans Progressiva

(2012) Apirat Chaikuad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CNS demyelination in fibrodysplasia ossificans progressiva

(2012) Lixin Kan et al.   JOURNAL OF NEUROLOGY

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

(2012) Jeremy Schwartzentruber et al.   NATURE

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

(2012) Gang Wu et al.   NATURE GENETICS

Paediatric and adult malignant glioma: close relatives or distant cousins?

(2012) Chris Jones et al.   Nature Reviews Clinical Oncology

Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric Diffuse Intrinsic Pontine Gliomas

(2012) Stephanie Puget et al.   PLoS One

Genome-Wide Analyses Identify Recurrent Amplifications of Receptor Tyrosine Kinases and Cell-Cycle Regulatory Genes in Diffuse Intrinsic Pontine Glioma

(2011) Barbara S. Paugh et al.   JOURNAL OF CLINICAL ONCOLOGY

Inherited human diseases of heterotopic bone formation

(2010) Eileen M. Shore et al.   Nature Reviews Rheumatology

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

(2009) Kirsten A. Petrie et al.   PLoS One

A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor

(2008) Toru Fukuda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

(2008) Renata Bocciardi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

(2008) Frederick S. Kaplan et al.   HUMAN MUTATION

BMP type I receptor inhibition reduces heterotopic ossification

(2008) Paul B Yu et al.   NATURE MEDICINE