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RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith–Magenis syndrome (SMS) and when overexpressed results in Potocki–Lupski syndrome (PTLS). Phenotypic and molecular evidence illustrates that haploinsufficiency of RAI1 disrupts circadian rhyt...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Mullegama, Sureni V., Alaimo, Joseph T., Fountain, Michael D., Burns, Brooke, Balog, Amanda Hebert, Chen, Li, Elsea, Sarah H.
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2017
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548529/
https://ncbi.nlm.nih.gov/pubmed/28794907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599147
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