Evidence map›Paper›PMID 17236194›Full record

ArticleAmerican journal of medical genetics. Part A2007

Whole genome microarray analysis of gene expression in Prader-Willi syndrome.

Douglas C Bittel, Nataliya Kibiryeva, Susan M Sell, Theresa V Strong, Merlin G Butler

2 registry-linked trialsOpen access · bronzeAbstract readComparative Study
In one paragraph

Article in American journal of medical genetics. Part A, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 52 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
2.9field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

NCT03081832 nacompletednot on this mapstarted 2017, after this paper: background citation

Long Term Evaluation of Infants Aged From 3 to 4 Years Old Included in the Ancient Study (Repeated Administrations of Oxytocin in Infants With Prader Willi Syndrome Aged From 0 to 6 Months) and Comparison With Not Treated and Age-matched Prader Willi Syndrome Infants (OT2SUITE)

TypeinterventionalSponsorUniversity Hospital, ToulouseRan2017 to 2018Enrolled34ConditionsPrader-Willi SyndromeArmsOxytocin, Control
NCT03114371 nacompletednot on this mapstarted 2016, after this paper: background citation

Effects of Intranasal Administrations of Oxytocin on Behavioural Troubles, Hyperphagia and Social Skills in Children With Prader-Willi Syndrome Aged From 3 to 12 Years.

TypeinterventionalSponsorUniversity Hospital, ToulouseRan2016 to 2019Enrolled40ConditionsPrader-Willi SyndromeArmsOxytocin, Placebo
3 · Its place in the literature

Who cites it

52 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Trial
  4. Article
  5. Review
  6. Neuropeptides and the Autonomic Nervous System in Prader-Willi Syndrome.International journal of molecular sciences · 2025
    Review
  7. Article
  8. Review
  9. Review
  10. UsingRNA biology · 2023
    Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Douglas C BittelChildren's Mercy Hospitals and Clinics, University of Missouri-Kansas City, School of Medicine, Kansas City, MO 64108, USA.
Nataliya Kibiryeva
Susan M Sell
Theresa V Strong
Merlin G Butler
Children's Mercy Hospital · USUniversity of Alabama at Birmingham · US

Funding

COMPULSIVE FOOD-SEEKING &FOOD MOTIVATION IN PWSR01HD041672 · NICHD · UNIVERSITY OF ROCHESTER · PI ZARCONE, JENNIFER R · 2001 to 2005
$1.2M
SCREENING FOR PEDIATRIC TYPE 2 DIABETES GENESR21HD040788 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI SELL, SUSAN M · 2000 to 2001
$274k
NICHD NIH HHS 5R21HD040788-02NICHD NIH HHS R01 HD041672PHS HHS R0141672
6 · The paper itself

Abstract

Prader-Willi syndrome (PWS) is caused by loss of function of paternally expressed genes in the 15q11-q13 region and a paucity of data exists on transcriptome variation. To further characterize genetic alterations in this classic obesity syndrome using whole genome microarrays to analyze gene expression, microarray and quantitative RT-PCR analysis were performed using RNA isolated from lymphoblastoid cells from PWS male subjects (four with 15q11-q13 deletion and three with UPD) and three age and cognition matched nonsyndromic comparison males. Of more than 47,000 probes examined in the microarray, 23,383 were detectable and 323 had significantly different expression in the PWS lymphoblastoid cells relative to comparison cells, 14 of which were related to neurodevelopment and function. As expected, there was no evidence of expression of paternally expressed genes from the 15q11-q13 region (e.g., SNRPN) in the PWS cells. Alterations in expression of serotonin receptor genes (e.g., HTR2B) and genes involved in eating behavior and obesity (ADIPOR2, MC2R, HCRT, OXTR) were noted. Other genes of interest with reduced expression in PWS subjects included STAR (a key regulator of steroid synthesis) and SAG (an arrestin family member which desensitizes G-protein-coupled receptors). Quantitative RT-PCR for SAG, OXTR, STAR, HCRT, and HTR2B using RNA isolated from their lymphoblastoid cells and available brain tissue (frontal cortex) from separate individuals with PWS and control subjects and normalized to GAPD gene expression levels validated our microarray gene expression data. Our analysis identified previously unappreciated changes in gene expression which may contribute to the clinical manifestations seen in PWS.

Indexed as

Genome, HumanOligonucleotide Array Sequence AnalysisAdolescentAdultBrainChildChromosome DeletionChromosomes, Human, Pair 15Chromosomes, Human, Pair 5FemaleGenomic ImprintingHumansLipid MetabolismMaleObesityPrader-Willi SyndromeReceptors, GABASerotonin

Identifiers

PMID17236194
PMCPMC5467864
OpenAlexW2062546576

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.