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Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome

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The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans,… Click to show full abstract

The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans, possess 3 Asx orthologs: 2 expressed ubiquitously, while the third, ASXL3, is predominantly expressed in the brain. All 3 are involved in transcriptional regulation of many genes through direct actions or epigenetically via histone modifications. Specific genes regulated by ASXL3 have not been identified.1,2

Keywords: bainbridge ropers; athetosis asxl3; deficiency bainbridge; ropers syndrome; hyperventilation athetosis; asxl3 deficiency

Journal Title: Neurology: Genetics
Year Published: 2017

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