ArticleSleep2016
Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.
Article in Sleep, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05939453 (A Randomized, Double-Blind, Controlled Trial of Bright Light Therapy on All-Cause Excessive Daytime Sleepiness in Prader-Willi Syndrome), which is not on this map. Cited by 39 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Randomized, Double-Blind, Controlled Trial of Bright Light Therapy on All-Cause Excessive Daytime Sleepiness in Prader-Willi Syndrome
Who cites it
39 citing papers in PubMed, 70 citations in OpenAlex.
- Epigenetic Insights and Exosome-Based Therapeutics for Insomnia: Bridging Sleep Biology and Precision Medicine.Molecular neurobiology · 2026Review
- Altered neural electrophysiological properties in the anterior cingulate cortex in a mouse model of Prader-Willi syndrome.The Journal of physiology · 2026Article
- How Imprinted Genes Shape Nurturing Behaviours and Neural Circuits.Brain, behavior and evolution · 2026Review
- Light and sex modifybioRxiv : the preprint server for biology · 2025Article
- Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.Journal of neuroendocrinology · 2025Article
- Footprints in the Sno: investigating the cellular and molecular mechanisms of SNORD116.Open biology · 2025Review
- The emerging role of snoRNAs in human disease.Genes & diseases · 2023Review
- Sleep Consequences of Prader-Willi Syndrome.Current neurology and neuroscience reports · 2023Review
- Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023Review
- Systematic investigation of imprinted gene expression and enrichment in the mouse brain explored at single-cell resolution.BMC genomics · 2022Article
- Sleep deficiency as a driver of cellular stress and damage in neurological disorders.Sleep medicine reviews · 2022Review
- Diagnosis and management of sleep disorders in Prader-Willi syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022Review
- Sleep Disorders in Adults with Prader-Willi Syndrome: Review of the Literature and Clinical Recommendations Based on the Experience of the French Reference Centre.Journal of clinical medicine · 2022Review
- Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms.Frontiers in psychiatry · 2022Article
- Do the diverse phenotypes of Prader-Willi syndrome reflect extremes of covariation in typical populations?Frontiers in genetics · 2022Article
- Comparison of mouse models reveals a molecular distinction between psychotic illness in PWS and schizophrenia.Translational psychiatry · 2021Article
- Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome.Neuroscience bulletin · 2021Article
- A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research.International journal of molecular sciences · 2021Review
- Comparison of Frequency and Severity of Sleep-Related Breathing Disorders in Children with Simple Obesity and Paediatric Patients with Prader-Willi Syndrome.Journal of personalized medicine · 2021Article
- What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders?Molecular psychiatry · 2021Review
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
STUDY
objectivesSleep-wake disturbances are often reported in Prader-Willi syndrome (PWS), a rare neurodevelopmental syndrome that is associated with paternally-expressed genomic imprinting defects within the human chromosome region 15q11-13. One of the candidate genes, prevalently expressed in the brain, is the small nucleolar ribonucleic acid-116 (SNORD116). Here we conducted a translational study into the sleep abnormalities of PWS, testing the hypothesis that SNORD116 is responsible for sleep defects that characterize the syndrome.
methodsWe studied sleep in mutant mice that carry a deletion of Snord116 at the orthologous locus (mouse chromosome 7) of the human PWS critical region (PWScr). In particular, we assessed EEG and temperature profiles, across 24-h, in PWScr (m+/p-) heterozygous mutants compared to wild-type littermates. High-resolution magnetic resonance imaging (MRI) was performed to explore morphoanatomical differences according to the genotype. Moreover, we complemented the mouse work by presenting two patients with a diagnosis of PWS and characterized by atypical small deletions of SNORD116. We compared the individual EEG parameters of patients with healthy subjects and with a cohort of obese subjects.
resultsBy studying the mouse mutant line PWScr(m+/p-), we observed specific rapid eye movement (REM) sleep alterations including abnormal electroencephalograph (EEG) theta waves. Remarkably, we observed identical sleep/EEG defects in the two PWS cases. We report brain morphological abnormalities that are associated with the EEG alterations. In particular, mouse mutants have a bilateral reduction of the gray matter volume in the ventral hippocampus and in the septum areas, which are pivotal structures for maintaining theta rhythms throughout the brain. In PWScr(m+/p-) mice we also observed increased body temperature that is coherent with REM sleep alterations in mice and human patients.
conclusionsOur study indicates that paternally expressed Snord116 is involved in the 24-h regulation of sleep physiological measures, suggesting that it is a candidate gene for the sleep disturbances that most individuals with PWS experience.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.