Discoidin domain receptor 2 is an important modulator of BMP signaling during heterotopic bone formation. [PDF]
Wu F +6 more
europepmc +1 more source
Genes and Gene Functions Associated with Morphological, Productive, Reproductive, and Carcass Quality Traits in Pigs: A Functional Bioinformatics Approach. [PDF]
Hernández-Montiel W +8 more
europepmc +1 more source
Momelotinib in JAK2 inhibitor-naïve myelofibrosis: pros and cons. [PDF]
Gangat N, Tefferi A.
europepmc +1 more source
Neofunction of ACVR1 in fibrodysplasia ossificans progressiva
openaire
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma [PDF]
Diffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome.
Kathryn R Taylor +2 more
exaly +7 more sources
Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas [PDF]
Diffuse intrinsic pontine gliomas (DIPGs) are aggressive pediatric brain tumors for which there is currently no effective treatment. Some of these tumors combine gain-of-function mutations in ACVR1, PIK3CA, and histone H3-encoding genes. The oncogenic mechanisms of action of ACVR1 mutations are currently unknown. Using mouse models, we demonstrate that
Gonzalo Sanchez Duffhues +2 more
exaly +5 more sources
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma [PDF]
Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location.
Simon Papillon-Cavanagh +2 more
exaly +5 more sources
ACVR1 mutations—a key piece in paediatric diffuse glioma [PDF]
exaly +2 more sources
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Functional Modeling of the ACVR1 (R206H) Mutation in FOP
Clinical Orthopaedics & Related Research, 2007Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor.
Jay C, Groppe +2 more
openaire +2 more sources

