Article
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
Human molecular genetics - 1 Jun 2017
Pham Duyen H, Tan Chuan C, Homan Claire C, Kolc Kristy L, Corbett Mark A, McAninch Dale, Fox Archa H, Thomas Paul Q, Kumar Raman, Gecz Jozef
Abstract excerpt
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We...
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