CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

INTRODUCTION: Loss-of-function mutations in one gene copy can lead to reduced amounts of protein and, consequently, human disease, a condition termed haploinsufficiency. It is currently estimated that more than 660 genes cause human disease as a result of haploinsufficiency. The delivery of extra co...

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Pubblicato in:Science
Autori principali: Matharu, Navneet, Rattanasopha, Sawitree, Tamura, Serena, Maliskova, Lenka, Wang, Yi, Bernard, Adelaide, Hardin, Aaron, Eckalbar, Walter L., Vaisse, Christian, Ahituv, Nadav
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6570489/
https://ncbi.nlm.nih.gov/pubmed/30545847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aau0629
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