SMSRF Research Publications

Article: Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus

Retinoic acid induced-1 (RAI1) is an important yet understudied histone code reader that when mutated in humans results in Smith–Magenis syndrome (SMS), a neurobehavioral disorder accompanied by signature craniofacial abnormalities.

Article: MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes

Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith–Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance.

Article: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

A new article detailing the effect of RAI1 and obesity in mice.

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