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- W2743234369 endingPage "100" @default.
- W2743234369 startingPage "91" @default.
- W2743234369 abstract "Gain-of-function mutations in the Type I Bone Morphogenic Protein (BMP) receptor ACVR1 have been identified in two diseases: Fibrodysplasia Ossificans Progressiva (FOP), a rare autosomal dominant disorder characterized by genetically driven heterotopic ossification, and in 20–25% of Diffuse Intrinsic Pontine Gliomas (DIPGs), a pediatric brain tumor with no effective therapies and dismal median survival. While the ACVR1 mutation is causal for FOP, its role in DIPG tumor biology remains under active investigation. Here, we discuss cross-fertilization between the FOP and DIPG fields, focusing on the biological mechanisms and principles gleaned from FOP that can be applied to DIPG biology. We highlight our current knowledge of ACVR1 in both diseases, and then describe the growing opportunities and barriers to effectively investigate ACVR1 in DIPG. Importantly, learning from other seemingly unrelated diseases harboring similar mutations may uncover novel mechanisms or processes for future investigation." @default.
- W2743234369 created "2017-08-17" @default.
- W2743234369 creator A5043054107 @default.
- W2743234369 creator A5045937083 @default.
- W2743234369 creator A5086085263 @default.
- W2743234369 date "2018-04-01" @default.
- W2743234369 modified "2023-10-15" @default.
- W2743234369 title "Shared ACVR1 mutations in FOP and DIPG: Opportunities and challenges in extending biological and clinical implications across rare diseases" @default.
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