Evidence map›Paper›PMID 23980137›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2013

Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Ian S Goldlust, Karen E Hermetz, Lisa M Catalano, Richard T Barfield, Rebecca Cozad, Grace Wynn, Alev Cagla Ozdemir, Karen N Conneely, Jennifer G Mulle, Shikha Dharamrup and 13 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
3.9field-weighted citation impact, top 6% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 32 citations in OpenAlex.

  1. Review
  2. Bitter taste receptors: Genes, evolution and health.Evolution, medicine, and public health · 2021
    Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. WD40 repeat domain proteins: a novel target class?Nature reviews. Drug discovery · 2017
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Replacing SNAP-25b with SNAP-25a expression results in metabolic disease.Proceedings of the National Academy of Sciences of the United States of America · 2015
    Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014
    Review
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

23 authors at 6 institutions in 2 countries.

Ian S GoldlustDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.
Karen E Hermetz
Lisa M Catalano
Richard T Barfield
Rebecca Cozad
Grace Wynn
Alev Cagla Ozdemir
Karen N Conneely
Jennifer G Mulle
Shikha Dharamrup
Madhuri R Hegde
Katherine H Kim
Brad Angle
Alison Colley
Amy E Webb
Erik C Thorland
Jay W Ellison
Jill A Rosenfeld
Blake C Ballif
Lisa G Shaffer
Laurie A Demmer
Unique Rare Chromosome Disorder Support Group
M Katharine Rudd
Emory University · USPerkinElmer (United States) · USNorthwestern University · USMayo Clinic in Arizona · USSouth Western Sydney Local Health District · AUTufts University · US

Funding

GRADUATE TRAINING IN BIOSTATISTICST32ES007142 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Brent Andrew Coull · 1985 to 2026
$11.9M
Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
Superfund Metal Mixtures, Biomarkers and NeurodevelopmentP42ES016454 · NIEHS · HARVARD SCHOOL OF PUBLIC HEALTH · PI BELLINGER, DAVID C · 2010 to 2015
$10.1M
Mechanism of subtelomeric breaksR01MH092902 · NIMH · EMORY UNIVERSITY · PI RUDD, MARY KATHARINE · 2010 to 2013
$1.6M
NCI NIH HHS R35 CA197449NIEHS NIH HHS P42 ES016454NIEHS NIH HHS T32 ES007142NIMH NIH HHS 5R01MH92902NIMH NIH HHS R01 MH092902
6 · The paper itself

Abstract

Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been implicated in cases of early onset obesity that may be comorbid with intellectual disability. Here, we describe a recurrent CNV that causes a syndrome associated with intellectual disability, seizures, macrocephaly, and obesity. This unbalanced chromosome translocation leads to duplication of over 100 genes on chromosome 12, including the obesity candidate gene G protein β3 (GNB3). We generated a transgenic mouse model that carries an extra copy of GNB3, weighs significantly more than its wild-type littermates, and has excess intraabdominal fat accumulation. GNB3 is highly expressed in the brain, consistent with G-protein signaling involved in satiety and/or metabolism. These functional data connect GNB3 duplication and overexpression to elevated body mass index and provide evidence for a genetic syndrome caused by a recurrent CNV.

Indexed as

Gene DuplicationAdolescentAdultAnimalsBrainChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 12Chromosomes, Human, Pair 8Disease Models, AnimalFemaleGTP-Binding ProteinsHeterotrimeric GTP-Binding ProteinsHumansMaleG-protein beta3 subunitGTP-Binding ProteinsHeterotrimeric GTP-Binding Proteins

Identifiers

PMID23980137
PMCPMC3773733
OpenAlexW2138526745

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.