Article
Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva.
PloS one - 1 Jan 2013
Shi Songting, Cai Jie, de Gorter David J J, Sanchez-Duffhues Gonzalo, Kemaladewi Dwi U, Hoogaars Willem M H, Aartsma-Rus Annemieke, 't Hoen Peter A C, ten Dijke Peter
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare heritable disease characterized by progressive heterotopic ossification of connective tissues, for which there is presently no definite treatment. A recurrent activating mutation (c.617G→A; R206H) of activin receptor-like kinase 2 (ACVR1/ALK2), a BMP type I receptor, has been shown as the main cause of FOP. This mutation constitutively activates the BMP...
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