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SMSRF Research Publications

Comparative analyses of the Smith−Magenis syndrome protein RAI1 in mice and common marmoset monkeys

To extend knowledge of RAI1 function to nonhuman primates, the Huang lab characterized the spatiotemporal distribution and molecular interactions of... Read More


Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling

Loss of RAI1 causes Smith-Magenis syndrome (SMS) and as of now, no drugs have been developed to improve neurometabolic phenotypes... Read More


rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice

Haploinsufficiency in retinoic acid induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and... Read More


Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome

Supported by SMSRF, Dr. Wei-Hsiang Huang’s team at McGill University studied the function of Rai1, the disease-causing gene of SMS, at different developmental stage.


Article: Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy

This comprehensive review article By Dr. Wei-Hsiang Huang summarizes the genetics and clinical features of Autism Spectrum Disorders that are... Read More


Article: SMS and Circadian Influence on Dev, Beh and Obesity

Smith-Magenis Syndrome and its Circadian influence on development, behavior, and obesity. June 2015


Article: SMS and food related behaviors and Prader-Willi

SMS and Food-Related Behaviors Equivalent to Prader-Willi.


Article: Copy number loss upstream of RAI1

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis- July 2015


Article: Environmental and Molecular Mutagens

Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution -June 2015


Article: Cognitive Phenotypes and Genomic Copy Number Variations in JAMA

Cognitive Phenotypes and Genomic Copy Number Variations in Journal of the American Medical Association - May 2015


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    • Research
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    • Related Research
  • Learn About SMS
    • Learn About SMS
    • Partnerships and collaborations
    • Newsletters
    • Resources
  • Personal Stories
    • Personal Stories
    • Testimonials
  • About Us
    • Meet Our Team
    • Scientific Advisory Panel
    • About Us
    • 2022-2025 Strategic Plan
    • Financials
    • Policies
  • Events
    • Singing For SMS
    • Steps Move Science Virtual Walk
    • 2022 Finish Line
    • 2021 Finish Line
  • Shop
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