Evidence map›Paper›PMID 20360305›Full record

ArticleHuman molecular genetics2010

Transcriptome analysis and molecular signature of human retinal pigment epithelium.

N V Strunnikova, A Maminishkis, J J Barb, F Wang, C Zhi, Y Sergeev, W Chen, A O Edwards, D Stambolian, G Abecasis and 3 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01432847 (Generation of Induced Pluripotent Stem), which is not on this map. Cited by 178 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
178citing papers in PubMed, 1 pooled it
6.2field-weighted citation impact, top 3% 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.

NCT01432847 recruitingnot on this mapstarted 2011, after this paper: background citation

Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls

TypeobservationalSponsorNational Eye Institute (NEI)Ran2011Enrolled930ConditionsRetinal Disease, AMD, Retinal Degeneration, Retinitis Pigmentosa
3 · Its place in the literature

Who cites it

178 citing papers in PubMed, 1 synthesis or guideline pooled it, 273 citations in OpenAlex.

  1. Pooled it
  2. Microfluidic platform for nanoliter qPCR of several retinal pigment epithelial (RPE) cells.Journal of micromechanics and microengineering : structures, devices, and systems · 2026
    Article
  3. Review
  4. Article
  5. Article
  6. Molecular underpinnings of induced degenerative heterogeneity in the retinal pigment epithelium.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  7. Article
  8. Review
  9. Article
  10. Cone Rod Homeobox (Ophthalmic genetics · 2025
    Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.Advances in experimental medicine and biology · 2025
    Review
  20. Review

118 more citing papers are in PubMed but not listed here.

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 6 institutions in 1 country.

N V StrunnikovaOphthalmic Genetics & Visual Function Branch, NIH, Bethesda, MD 20892-2510, USA.
A Maminishkis
J J Barb
F Wang
C Zhi
Y Sergeev
W Chen
A O Edwards
D Stambolian
G Abecasis
A Swaroop
P J Munson
S S Miller
National Eye Institute · USCenter for Information Technology · USMichigan United · USOregon Research Institute · USUniversity of Michigan–Ann Arbor · USUniversity of Pennsylvania · US

Funding

Regulation of retinal developmentZIAEY000450 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2009 to 2025
$71.0M
Proteins From Hereditary Eye Diseases: In-silico and Experimental StudiesZIAEY000476 · NEI · NATIONAL EYE INSTITUTE · PI SERGEEV, YURI · 2009 to 2025
$16.8M
Human Retinal Pigment Epithelial PhysiologyZIAEY000419 · NEI · NATIONAL EYE INSTITUTE · PI SCHNEEWEIS, DAVID · 2009 to 2020
$12.0M
Statistical And Computational Methods For Gene Expression and Proteomic AnalysisZIACT000266 · CIT · CENTER FOR INFORMATION TECHNOLOGY · PI MUNSON, PETER J · 2009 to 2016
$4.2M
Intramural NIH HHS
6 · The paper itself

Abstract

Retinal pigment epithelium (RPE) is a polarized cell layer critical for photoreceptor function and survival. The unique physiology and relationship to the photoreceptors make the RPE a critical determinant of human vision. Therefore, we performed a global expression profiling of native and cultured human fetal and adult RPE and determined a set of highly expressed 'signature' genes by comparing the observed RPE gene profiles to the Novartis expression database (SymAtlas: http://wombat.gnf.org/index.html) of 78 tissues. Using stringent selection criteria of at least 10-fold higher expression in three distinct preparations, we identified 154 RPE signature genes, which were validated by qRT-PCR analysis in RPE and in an independent set of 11 tissues. Several of the highly expressed signature genes encode proteins involved in visual cycle, melanogenesis and cell adhesion and Gene ontology analysis enabled the assignment of RPE signature genes to epithelial channels and transporters (ClCN4, BEST1, SLCA20) or matrix remodeling (TIMP3, COL8A2). Fifteen RPE signature genes were associated with known ophthalmic diseases, and 25 others were mapped to regions of disease loci. An evaluation of the RPE signature genes in a recently completed AMD genomewide association (GWA) data set revealed that TIMP3, GRAMD3, PITPNA and CHRNA3 signature genes may have potential roles in AMD pathogenesis and deserve further examination. We propose that RPE signature genes are excellent candidates for retinal diseases and for physiological investigations (e.g. dopachrome tautomerase in melanogenesis). The RPE signature gene set should allow the validation of RPE-like cells derived from human embryonic or induced pluripotent stem cells for cell-based therapies of degenerative retinal diseases.

Indexed as

Gene ExpressionGene Expression ProfilingAdultAmino Acid SequenceCells, CulturedGenome-Wide Association StudyHumansIntramolecular OxidoreductasesMacular DegenerationMolecular Sequence DataOligonucleotide Array Sequence AnalysisRetinal Pigment Epitheliumdopachrome isomeraseIntramolecular Oxidoreductases

Identifiers

PMID20360305
PMCPMC2876890
OpenAlexW2103693357

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.