Genomic imprinting does not reduce the dosage of UBE3A in neurons

BACKGROUND: The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmen...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Epigenetics Chromatin
Main Authors: Hillman, Paul R., Christian, Sarah G. B., Doan, Ryan, Cohen, Noah D., Konganti, Kranti, Douglas, Kory, Wang, Xu, Samollow, Paul B., Dindot, Scott V.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5433054/
https://ncbi.nlm.nih.gov/pubmed/28515788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13072-017-0134-4
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados