Evidence map›Paper›PMID 25176645›Full record

ArticleCell reports2014

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene.

Abhijit Dandapat, Darko Bosnakovski, Lynn M Hartweck, Robert W Arpke, Kristen A Baltgalvis, Derek Vang, June Baik, Radbod Darabi, Rita C R Perlingeiro, F Kent Hamra and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 1 pooled it
4.8field-weighted citation impact, top 4% 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

53 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Molecular and Phenotypic Changes in FLExDUX4 Mice.Journal of personalized medicine · 2023
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. CRISPR/Cas correction of muscular dystrophies.Experimental cell research · 2021
    Article
  14. Review
  15. Review
  16. Review
  17. Therapeutic Strategies Targeting DUX4 in FSHD.Journal of clinical medicine · 2020
    Review
  18. Inhibition ofProceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  19. Article
  20. Article
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

13 authors at 2 institutions in 1 country.

Abhijit DandapatLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA.
Darko BosnakovskiLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA.
Lynn M HartweckLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA.
Robert W ArpkeLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA.
Kristen A BaltgalvisProgram in Physical Medicine and Rehabilitation, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA.
Derek VangVascular Biology Center, Division of Hematology, Oncology, and Transplantation, Department of Medicine MMC 480, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.
June BaikLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Medicine, University of Minnesota, 312 Church Street SE, Minneapolis, MN 55455, USA.
Radbod DarabiLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Medicine, University of Minnesota, 312 Church Street SE, Minneapolis, MN 55455, USA.
Rita C R PerlingeiroLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Medicine, University of Minnesota, 312 Church Street SE, Minneapolis, MN 55455, USA.
F Kent HamraDepartment of Pharmacology, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
Kalpna GuptaVascular Biology Center, Division of Hematology, Oncology, and Transplantation, Department of Medicine MMC 480, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.
Dawn A LoweProgram in Physical Medicine and Rehabilitation, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA.
Michael KybaLillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA. Electronic address: kyba@umn.edu.
University of Minnesota · USThe University of Texas Southwestern Medical Center · US

Funding

TRAINING PROGRAM IN MUSCLE RESEARCHT32AR007612 · NIAMS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI JAMES M ERVASTI, DAWN A LOWE · 2001 to 2026
$11.3M
Midwestern Progenitor Cell ConsortiumU01HL100407 · NHLBI · UNIVERSITY OF MINNESOTA · PI GARRY, DANIEL J., KYBA, MICHAEL · 2009 to 2015
$7.8M
Probing the Activity of DUX4 in FSHDR01AR055685 · NIAMS · UNIVERSITY OF MINNESOTA · PI Michael Kyba · 2010 to 2026
$7.0M
Skeletal Muscle Regeneration from Differentiating Pluripotent Stem CellsR01AR055299 · NIAMS · UNIVERSITY OF MINNESOTA · PI PERLINGEIRO, RITA C. R. · 2008 to 2018
$3.3M
Opioid Activity in Endothelium in Sickle Cell Disease R01HL068802 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI GUPTA, KALPNA · 2002 to 2012
$2.6M
Characteristics and mechanisms of pain in sickle cell diseaseR01HL103733 · NHLBI · UNIVERSITY OF MINNESOTA · PI GUPTA, KALPNA, SIMONE, DONALD · 2010 to 2014
$1.9M
Molecular Mechanisms of Spermatogonial DevelopmentR01HD053889 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI HAMRA, F. KENT · 2009 to 2013
$1.6M
Estrogenic Effects on Aged MuscleK02AG036827 · NIA · UNIVERSITY OF MINNESOTA · PI LOWE, DAWN A · 2010 to 2013
$427k
NHLBI NIH HHS R01 HL068802NHLBI NIH HHS R01 HL103733NHLBI NIH HHS R01 HL103773NHLBI NIH HHS R01 HL68802NHLBI NIH HHS U01 HL100407NIAMS NIH HHS P30 AR0507220NIAMS NIH HHS R01 AR055299NIAMS NIH HHS R01AR055299NIAMS NIH HHS R01 AR055685NIAMS NIH HHS T32 AR007612NIA NIH HHS K02 AG036827NIA NIH HHS K02-AG036827NICHD NIH HHS R01 HD053889
6 · The paper itself

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit encodes DUX4, a gene that is normally silent in most tissues. Besides muscular loss, most patients suffer retinal vascular telangiectasias. To generate an animal model, we introduced a doxycycline-inducible transgene encoding DUX4 and 3' genomic DNA into a euchromatic region of the mouse X chromosome. Without induction, DUX4 RNA was expressed at low levels in many tissues and animals displayed a variety of unexpected dominant leaky phenotypes, including male-specific lethality. Remarkably, rare live-born males expressed DUX4 RNA in the retina and presented a retinal vascular telangiectasia. By using doxycycline to induce DUX4 expression in satellite cells, we observed impaired myogenesis in vitro and in vivo. This mouse model, which shows pathologies due to FSHD-related D4Z4 sequences, is likely to be useful for testing anti-DUX4 therapies in FSHD.

Indexed as

Genes, DominantGenes, X-LinkedAnimalsCells, CulturedDisease Models, AnimalEuchromatinHomeodomain ProteinsMaleMiceMice, TransgenicMuscular Dystrophy, FacioscapulohumeralPhenotypeRetinaRNA, MessengerDux4 protein, mouseEuchromatinHomeodomain ProteinsRNA, Messenger

Identifiers

PMID25176645
PMCPMC4188423
OpenAlexW2055787369

What OpenQuestion holds

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LicenceTDM
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.