Cited by 47Circadian rhythm and melatoninGenetics and Neurodevelopmental DisordersSleep and Wakefulness Research

Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

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Boone, Philip M., Reiter, Russel J., Glaze, Daniel G., Tan, Dun‐Xian, Lupski, James R., Potocki, Lorraine·2011·American Journal of Medical Genetics Part A

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Crossref · 10.1002/ajmg.a.34098

Cites

34 of 34 references verified0 citation errors · 0 not checkable

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  • RAI1 is implicated in melatonin secretion, and inverted melatonin rhythms may be responsible for the sleep disturbances in SMS.

    “RAI1 is implicated in melatonin secretion, and inverted melatonin rhythms may be responsible for these sleep disturbances132.”

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Authors
Boone, P. M., Reiter, R. J., Glaze, D. G., Tan, D., Lupski, J. R., & Potocki, L.
Affiliations
  • Baylor College of Medicine (US)
  • The University of Texas at San Antonio Health Science Center (US)
Corresponding author
Potocki, Lorraine
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2011-07-07
Volume
155
Issue
8
Pages
2024-2027
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W2078599571
Cited by
47
References
35
Citations by year
2026: 4 · 2024: 7 · 2022: 1 · 2021: 4 · 2020: 5 · 2019: 3 · 2018: 4 · 2017: 2 · 2016: 4 · 2015: 4 · 2014: 2 · 2013: 4 · 2012: 3
FWCI
1.33
Type
journal article
Language
en
Open access
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Eye Institute (T32EY00710, T32EY007102)
  • National Institute of Neurological Disorders and Stroke (R01NS058529)
  • National Center for Research Resources (M01RR000188, M01 RR-00188)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD24064-02, K08 HD01149, K08HD001149)
Topics
  • Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Keywords
Smith-Magenis syndrome, RAI1 gene, point mutations, melatonin, circadian rhythm, circadian rhythm disorders, melatonin secretion
MeSH terms
Adult, Child, Circadian Rhythm, Female, Humans, Male, Melatonin, Sleep Stages, Transcription Factors, Trans-Activators, Point Mutation, Sleep Disorders, Circadian Rhythm, Genetic Association Studies, Smith-Magenis Syndrome

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