Evidence map›Paper›PMID 30541930›Full record

ArticleG3 (Bethesda, Md.)2019

Complex Structural

Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling and 3 more

Open access · goldAbstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  4. Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024
    Review
  5. Article
  6. Article
  7. Formal commentary.PLoS genetics · 2020
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. AGenes · 2019
    Article
  13. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 6 institutions in 3 countries.

Leonardo MurgianoDepartment of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA gda@vet.upenn.edu leomur@vet.upenn.edu.
Doreen BeckerDepartment of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.
Dina TorjmanDepartment of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.
Jessica K NiggelDepartment of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.
Ausra MilanoOptiGen, LLC, Cornell Business & Technology Park, Ithaca, NY.
Cheryl CullenCullenWebb Animal Eye Specialists, Riverview, N.B Canada.
Rui FengDepartment of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Fan WangDepartment of Molecular Cardiology, Cleveland Clinic Lerner Research Institute, Cleveland, OH.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Sue Pearce-KellingOptiGen, LLC, Cornell Business & Technology Park, Ithaca, NY.
Martin L KatzMason Eye Institute, University of Missouri School of Medicine Columbia, Missouri.
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0003-0553-4880
Gustavo D AguirreDepartment of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA gda@vet.upenn.edu leomur@vet.upenn.edu.
University of Pennsylvania · USCornell University · USUniversity of Bern · CHCleveland Clinic Lerner College of Medicine · USKiel University · DEUniversity of Missouri · US

Funding

MODELS OF HEREDITY RETINAL DEGENERATIONR01EY006855 · NEI · UNIVERSITY OF PENNSYLVANIA · PI GUSTAVO David AGUIRRE, William A. Beltran · 1992 to 2026
$20.7M
Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CLAIRE H MITCHELL · 1985 to 2026
$19.5M
Translational Research for Retinal Degeneration TherapiesR01EY017549 · NEI · UNIVERSITY OF PENNSYLVANIA · PI BELTRAN, WILLIAM A. · 2007 to 2024
$14.1M
Mesenchymal Stem Cells for Treatment of Retinal DiseasesR01EY018815 · NEI · UNIVERSITY OF MISSOURI-COLUMBIA · PI KATZ, MARTIN L · 2009 to 2011
$881k
NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY006855NEI NIH HHS R01 EY017549NEI NIH HHS R01 EY018815
6 · The paper itself

Abstract

Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. In man, many rod and rod-cone degenerative diseases are classified as forms of retinitis pigmentosa (RP). Dogs also have a comparable disease grouping termed progressive retinal atrophy (PRA). These diseases are generally due to single gene defects and follow Mendelian inheritance.We collected 51 DNA samples from Miniature Schnauzers affected by PRA (average age of diagnosis ∼3.9 ±1 years), as well as from 56 clinically normal controls of the same breed (average age ∼6.6 ±2.8 years). Pedigree analysis suggested monogenic autosomal recessive inheritance of PRA. GWAS and homozygosity mapping defined a critical interval in the first 4,796,806 bp of CFA15. Whole genome sequencing of two affected cases, a carrier and a control identified two candidate variants within the critical interval. One was an intronic SNV in

Indexed as

MutationAnimalsDog DiseasesDogsPenetrancePolymorphism, Single NucleotideRetinal DegenerationRNA, MessengerRNA SplicingThiolester Hydrolasespalmitoyl-protein thioesteraseRNA, MessengerThiolester Hydrolasescomplex variantdogpalmitoyl protein thioesterasePRAprogressive retinal atrophyretinal degenerationwhole genome sequencing

Identifiers

PMID30541930
PMCPMC6385984
OpenAlexW2905027915

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.