Evidence map›Paper›PMID 28344992›Full record

ArticleMolecular therapy. Methods & clinical development2017

Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes.

D Jake VanBelzen, Alock S Malik, Paula S Henthorn, Joe N Kornegay, Hansell H Stedman

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

Article in Molecular therapy. Methods & clinical development, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Transposable element-mediated structural variation analysis in dog breeds using whole-genome sequencing.Mammalian genome : official journal of the International Mammalian Genome Society · 2019
    Article
  3. Article
  4. Review
  5. 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

5 authors at 2 institutions in 1 country.

D Jake VanBelzenDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Alock S MalikDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Paula S HenthornSection of Medical Genetics, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA.
Joe N KornegayDepartment of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA.
Hansell H StedmanDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Corporal Michael Crescenz Veterans Administration Medical Center, Philadelphia, PA 19104, USA.
University of Pennsylvania · USTexas A&M University · US

Funding

The Role of Hyaluronic Acid Receptors in Tendon HealingP30AR050950 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI PIGNOLO, ROBERT JOHN · 2006 to 2015
$6.2M
Training in Muscle Biology and Muscle DiseaseT32AR053461 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI OSTAP, E. MICHAEL · 2006 to 2025
$4.9M
Systemic molecular therapy for muscular dystrophyR01NS042874 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI STEDMAN, HANSELL H · 2002 to 2013
$4.8M
The Role of Eya and its Interacting Gene Six in Mammalian Inner Ear DevelopmentR01DC005824 · NIDCD · MC LAUGHLIN RESEARCH INSTITUTE · PI XU, PIN-XIAN · 2002 to 2011
$4.1M
Safety and Efficacy of Systemic Gene Therapy in Informative Models for DMDR01NS094705 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI STEDMAN, HANSELL H · 2015 to 2019
$2.9M
Shared Resource for Disease Model Surgical Critical Care and Data MangementS10RR028027 · NCRR · UNIVERSITY OF PENNSYLVANIA · PI STEDMAN, HANSELL H · 2010 to 2010
$481k
NCRR NIH HHS S10 RR028027NIAMS NIH HHS P30 AR050950NIAMS NIH HHS T32 AR053461NIDCD NIH HHS R01 DC005824NINDS NIH HHS R01 NS042874NINDS NIH HHS R01 NS094705
6 · The paper itself

Abstract

Duchenne muscular dystrophy (DMD) is a lethal, X-linked, muscle-wasting disorder caused by mutations in the large, 2.4-Mb dystrophin gene. The majority of DMD-causing mutations are sporadic, multi-exon, frameshifting deletions, with the potential for variable immunological tolerance to the dystrophin protein from patient to patient. While systemic gene therapy holds promise in the treatment of DMD, immune responses to vectors and transgenes must first be rigorously evaluated in informative preclinical models to ensure patient safety. A widely used canine model for DMD, golden retriever muscular dystrophy, expresses detectable amounts of near full-length dystrophin due to alternative splicing around an intronic point mutation, thereby confounding the interpretation of immune responses to dystrophin-derived gene therapies. Here we characterize a naturally occurring deletion in a dystrophin-null canine, the German shorthaired pointer. The deletion spans 5.6 Mb of the X chromosome and encompasses all coding exons of the

Indexed as

concerted evolutionDuchenne muscular dystrophydystrophin-nullGerman shorthaired pointerpseudogene

Identifiers

PMID28344992
PMCPMC5363321
OpenAlexW2565895195

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.