Evidence map›Paper›PMID 26969498›Full record

ArticleBMC genomics2016

Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations.

Kristin L Gardiner, Louise Downs, Agnes I Berta-Antalics, Evelyn Santana, Gustavo D Aguirre, Sem Genini

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.2field-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

11 citing papers in PubMed, 14 citations in OpenAlex.

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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

6 authors at 2 institutions in 2 countries.

Kristin L GardinerSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
Louise DownsSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
Agnes I Berta-AntalicsSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
Evelyn SantanaSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
Gustavo D AguirreSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
Sem GeniniSection of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA. geninis@vet.upenn.edu.
University of Pennsylvania · USUniversitätsklinikum Erlangen · DE

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 Qi N Cui · 1985 to 2026
$19.5M
Translational Research for Retinal Degeneration TherapiesR01EY017549 · NEI · UNIVERSITY OF PENNSYLVANIA · PI BELTRAN, WILLIAM A. · 2007 to 2024
$14.1M
Short-term Training: students in health professional schoolsT35OD010919 · OD · UNIVERSITY OF PENNSYLVANIA · PI Michael Lee Atchison · 2012 to 2026
$1.8M
CANINE MODELS OF HEREDITARY RETINAL DEGENERATIONSU01EY006855 · NEI · UNIVERSITY OF PENNSYLVANIA · PI AGUIRRE, GUSTAVO DAVID · 1986 to 1992
–
NEI NIH HHS EY017549NEI NIH HHS EY06855NEI NIH HHS P30 EY001583NEI NIH HHS P30EY001583NEI NIH HHS R01 EY006855NEI NIH HHS R01 EY017549NIH HHS T35 OD010919
6 · The paper itself

Abstract

backgroundMitotic terminally differentiated photoreceptors (PRs) are observed in early retinal degeneration (erd), an inherited canine retinal disease driven by mutations in the NDR kinase STK38L (NDR2).

resultsWe demonstrate that a similar proliferative response, but of lower magnitude, occurs in two other early onset disease models, X-linked progressive retinal atrophy 2 (xlpra2) and rod cone dysplasia 1 (rcd1). Proliferating cells are rod PRs, and not microglia or Müller cells. Expression of the cell cycle related genes RB1 and E2F1 as well as CDK2,4,6 was up-regulated, but changes were mutation-specific. Changes in cyclin expression differed across all genes, diseases and time points analyzed, although CCNA1 and CCNE1 expression increased with age in the three models suggesting that there is a dysregulation of cell cycle gene expression in all three diseases. Unique to erd, however, are mutation-specific changes in the expression of NDR kinases and Hippo signaling members with increased expression of MOB1 and LATS1 in the newly generated hybrid rod/S-cones.

conclusionsOur data raise the intriguing possibility that terminally differentiated normal PRs are kept from dividing by NDR2-MOB1 interaction. Furthermore, they provide the framework for the selection of candidate genes for further investigation as potential targets of therapy.

Indexed as

Age FactorsAnimalsCell ProliferationCyclinsDog DiseasesDogsE2F1 Transcription FactorGenes, cdcMutationPhosphoproteinsPhotoreceptor CellsProtein Serine-Threonine KinasesRetinaRetinal DegenerationRetinoblastoma ProteinCyclinsE2F1 Transcription FactorPhosphoproteinsProtein Serine-Threonine KinasesRetinoblastoma ProteinCanine modelsCell cycleerdHippo pathwayPhotoreceptor degenerationPhotoreceptor mitosisrcd1xlpra2

Identifiers

PMID26969498
PMCPMC4788844
OpenAlexW2293653030

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.