Measurement of constitutive activity of BMP type I receptors.
作者： David J.J. de Gorter , Maarten van Dinther , Peter ten Dijke
DOI: 10.1016/B978-0-12-381298-8.00015-0
关键词:
摘要: Bone morphogenetic proteins (BMPs) are pleiotropic cytokines controlling a multitude of processes, among which bone formation. BMPs function by binding and activating BMP type I II receptors, resulting in activation Smad transcription factors expression target genes. Mutations the receptor ALK2 were identified patients suffering from Fibrodysplasia Ossificans Progressiva (FOP). The mutation found all displaying classical FOP symptoms, R206H mutation, renders constitutively active. Here, we provide detailed description how to determine whether other mutations will confer constitutive activity receptor.
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