Publications by authors named "Nadine Nijem"
Article Synopsis
- * Researchers found a gene called KDM5A by studying mice that had trouble making sounds, and when they turned off this gene in mice, the mice stopped vocalizing and showed other problems like being less social and having trouble thinking.
- * They also looked at the genes of humans with ASD who can't speak and found some changes in the KDM5A gene, which shows how important this gene is for how the brain develops and works.
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused by inactivating mutations in , but the underlying biological mechanisms are completely unknown. We found that loss of in mice resulted in growth retardation, decreased grip strength, and loss of vocalization.
View Article and Find Full Text PDFSequencing studies have implicated haploinsufficiency of , a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al.
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