Evidence map›Paper›PMID 24623965›Full record

ArticleMolecular vision2014

Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene.

Michelle N Mary-Sinclair, Xiaofei Wang, Douglas J Swanson, Caroline Y Sung, Eneida A Mendonca, Kristen Wroblewski, Shannon H Baumer, Dan Goldowitz, Monica M Jablonski, Stephen X Skapek

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

Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. [Bilateral posterior persistent hyperplastic primary vitreous].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2018
    Article
  4. 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

10 authors at 2 institutions in 1 country.

Michelle N Mary-SinclairDepartment of Pediatrics, Division of Hematology/Oncology, University of Texas Southwestern Medical Center, Dallas, TX.
Xiaofei WangDepartment of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN ; Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN.
Douglas J SwansonDepartment of Medical Genetics, Centre of Molecular Medicine and Therapeutics, CFRI, University of British Columbia, Vancouver, BC, Canada.
Caroline Y SungDepartment of Pediatrics, Division of Hematology/Oncology, University of Texas Southwestern Medical Center, Dallas, TX.
Eneida A MendoncaDepartment of Pediatrics and Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI.
Kristen WroblewskiDepartment of Health Studies, University of Chicago, Chicago, IL.
Shannon H BaumerDepartment of Pediatrics, University of Chicago, Chicago, IL.
Dan GoldowitzDepartment of Medical Genetics, Centre of Molecular Medicine and Therapeutics, CFRI, University of British Columbia, Vancouver, BC, Canada.
Monica M JablonskiDepartment of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN ; Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN.
Stephen X SkapekDepartment of Pediatrics, Division of Hematology/Oncology, University of Texas Southwestern Medical Center, Dallas, TX.
The University of Texas Southwestern Medical Center · USUniversity of Chicago · US

Funding

CORE--MOLECULAR BIOLOGYP30EY013080 · NEI · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI JOHNSON, DIANNA AMMONS · 2000 to 2010
$3.7M
ARF Controls Vascular Regression During Eye DevelopmentR01EY014368 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI SKAPEK, STEPHEN X · 2003 to 2012
$3.4M
Tgf Beta 2 controls p19Arf During Eye DevelopmentR01EY019942 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI SKAPEK, STEPHEN X · 2010 to 2017
$2.6M
NEI NIH HHS EY013080NEI NIH HHS EY014368NEI NIH HHS EY019942NEI NIH HHS P30 EY013080NEI NIH HHS R01 EY014368NEI NIH HHS R01 EY019942
6 · The paper itself

Abstract

purposePersistent hyperplastic primary vitreous (PHPV) represents a developmental eye disease known to have diverse manifestations ranging from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. PHPV can be modeled in mice lacking individual genes, but certain features of such models differ from the clinical realm. For example, mice lacking the Arf gene have uniformly severe disease with consistent autosomal recessive disease penetrance. We tested whether the graded somatic loss of Arf in a subset of cells in chimeric mice mimics the range of disease in a non-heritable manner.

methodsWild type ↔ Arf(-/-) mouse chimeras were generated by morulae fusion, and when the mice were 10 weeks old, fundoscopic, slit-lamp, and histological evaluations were performed. The relative fraction of cells of the Arf(-/-) lineage was assessed with visual, molecular genetic, and histological analysis. Objective quantification of various aspects of the phenotype was correlated with the genotype.

resultsSixteen chimeras were generated and shown to have low, medium, and high contributions of Arf(-/-) cells to tail DNA, the cornea, and the retinal pigment epithelium (RPE), with excellent correlation between chimerism in the tail DNA and the RPE. Phenotypic differences (coat color and severity of eye disease) were evident, objectively quantified, and found to correlate with the contribution of Arf(-/-) cells to the RPE and tail-derived DNA, but not the cornea.

conclusionsGenerating animals composed of different numbers of Arf(-/-) cells mimicked the range of disease severity observed in patients with PHPV. This establishes the potential for full manifestations of PHPV to be caused by somatic mutations of a single gene during development.

Indexed as

Gene DeletionMosaicismAnimalsCell LineageChimeraCyclin-Dependent Kinase Inhibitor p19DNAMiceMice, Inbred C57BLOphthalmoscopyPersistent Hyperplastic Primary VitreousPhenotypePigmentationRetinal Pigment EpitheliumCyclin-Dependent Kinase Inhibitor p19DNA

Identifiers

PMID24623965
PMCPMC3945809
OpenAlexW1831367112

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.