Global ETD Search
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Showing 1 to 6 of 6 for “"RAI1"”.
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The Effect of Retinoic Acid on Rai1 and Identification of Retinoic Acid Receptor Binding Site in Human Rai1
Previous studies showed haploinsufficiency of RAI1 is the main cause of Smith-Magenis syndrome (SMS). SMS is a developmental neurobehavioral syndrome characterized by intellectual disability, congenital anomalies, obesity, neurobehavioral abnormalities, and disrupted circadian sleep-wake pattern. …
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The Mechanism of Obesity in Rai1+/- Mice
… or mutation of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2 that results in haploinsufficiency. SMS patients with a deletion account for 90% of the cases, while the other 10% have a mutation in RAI1. The syndrome is characterized by cognitive impairment, craniofacial …
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HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION
… comprised of 17p11.2 deletions, while ~10% have RAI1 mutations [8]. All 17p11.2 deletions associated with SMS include RAI1 deletion [10]. RAI1 is thought to function as a transcriptional factor although its cellular role is still unclear. First, in order to better understand the role of RAI1 as a …
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IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
… mutation of the retinoic acid inducted one gene (RAI1). SMS is characterized by a multitude of phenotypic features including craniofacial defects, short stature, obesity, intellectual disability, self-abusive behavior, sleep disturbance and behavioral abnormalities. Interestingly, although SMS is …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
… genetic syndromes, including Smith-Magenis (SMS, RAI1), Pitt-Hopkins (PTH, TCF4), Angelman (AS, UBE3A) and Rett (RTT, MECP2) syndromes, including ID, speech impairment, and seizures, in addition to other autism spectrum disorder (ASD)-associated phenotypes (associated with mutation of MBD1). The …
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An Assessment of Obesity and Hyperphagia In Individuals With Smith-Magenis Syndrome
… on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing growth patterns in SMS. There is some evidence that individuals with SMS develop obesity. Thus, this study aims to characterize …