NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01563-8
Abstract: Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. Here we… read more here.
Keywords: nitrosynapsin therapy; autism; haploinsufficiency; therapy mouse ... See more keywords
Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.664449
Abstract: Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS.… read more here.
Keywords: patients exhibited; mef2c haploinsufficiency; haploinsufficiency syndrome; genotypes phenotypes ... See more keywords