Evidence map›Paper›PMID 35882847›Full record

ArticleNature communications2022

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.

Anne Senabouth, Maciej Daniszewski, Grace E Lidgerwood, Helena H Liang, Damián Hernández, Mehdi Mirzaei, Stacey N Keenan, Ran Zhang, Xikun Han, Drew Neavin and 22 more

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

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 1 pooled it
11.8field-weighted citation impact, top 1% 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

49 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Genetic evidence and cross-species functional characterization implicateProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. 3D epigenomic landscape of the human retinal pigment epithelium.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Mapping the Hypoxic Fitness Landscape of Retinal Pigment Epithelial Cells.International journal of molecular sciences · 2026
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. 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

32 authors at 9 institutions in 2 countries.

Anne Senabouth *Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.ORCID 0000-0002-8798-9821
Maciej Daniszewski *Department of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.ORCID 0000-0003-3468-4941
Grace E Lidgerwood *Department of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Helena H LiangCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.ORCID 0000-0002-4270-8707
Damián HernándezDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Mehdi MirzaeiMacquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Stacey N KeenanDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Ran ZhangGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Xikun HanQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID 0000-0002-3823-7308
Drew NeavinGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.ORCID 0000-0002-1783-6491
Louise RooneyDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Maria Isabel G Lopez SanchezCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.ORCID 0000-0002-1528-5964
Lerna GulluyanDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Joao A PauloDepartment of Cell Biology, Harvard Medical School, Boston, MA, 02115, USA.ORCID 0000-0002-4291-413X
Linda ClarkeCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.
Lisa S KearnsCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.
Vikkitharan GnanasambandapillaiGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Chia-Ling ChanGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.ORCID 0000-0003-2079-9262
Uyen NguyenGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Angela M SteinmannGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Rachael A McCloyGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Nona FarbehiGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.
Vivek K GuptaMacquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
David A MackeyLions Eye Institute, Centre for Vision Sciences, University of Western Australia, Perth, WA, 6009, Australia.ORCID 0000-0001-7914-4709
Guy BylsmaLions Eye Institute, Centre for Vision Sciences, University of Western Australia, Perth, WA, 6009, Australia.
Nitin VermaSchool of Medicine, University of Tasmania, Hobart, TAS, 7005, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID 0000-0001-6731-8142
Matthew J WattDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Robyn H GuymerCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.ORCID 0000-0002-9441-4356
Joseph E PowellGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia. j.powell@garvan.org.au.ORCID 0000-0002-5070-4124
Alex W HewittCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia. hewitt.alex@gmail.com.ORCID 0000-0002-5123-5999
Alice PébayDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia. apebay@unimelb.edu.au.ORCID 0000-0002-7408-9453
Garvan Institute of Medical Research · AUThe University of Melbourne · AUCentre for Eye Research Australia · AULions Eye Institute · AUMacquarie University · AUQIMR Berghofer Medical Research Institute · AUUniversity of Tasmania · AUHarvard University · USThe Royal Melbourne Hospital · AU

Funding

Advancing Multiplexed Isobaric Tag-based Strategies for Proteome ProfilingR01GM132129 · NIGMS · HARVARD MEDICAL SCHOOL · PI PAULO, JOAO A · 2019 to 2023
$1.7M
NIGMS NIH HHS R01 GM132129
6 · The paper itself

Abstract

There are currently no treatments for geographic atrophy, the advanced form of age-related macular degeneration. Hence, innovative studies are needed to model this condition and prevent or delay its progression. Induced pluripotent stem cells generated from patients with geographic atrophy and healthy individuals were differentiated to retinal pigment epithelium. Integrating transcriptional profiles of 127,659 retinal pigment epithelium cells generated from 43 individuals with geographic atrophy and 36 controls with genotype data, we identify 445 expression quantitative trait loci in cis that are asssociated with disease status and specific to retinal pigment epithelium subpopulations. Transcriptomics and proteomics approaches identify molecular pathways significantly upregulated in geographic atrophy, including in mitochondrial functions, metabolic pathways and extracellular cellular matrix reorganization. Five significant protein quantitative trait loci that regulate protein expression in the retinal pigment epithelium and in geographic atrophy are identified - two of which share variants with cis- expression quantitative trait loci, including proteins involved in mitochondrial biology and neurodegeneration. Investigation of mitochondrial metabolism confirms mitochondrial dysfunction as a core constitutive difference of the retinal pigment epithelium from patients with geographic atrophy. This study uncovers important differences in retinal pigment epithelium homeostasis associated with geographic atrophy.

Indexed as

Geographic AtrophyMacular DegenerationHumansProteomicsRetinal Pigment EpitheliumTranscriptome

Identifiers

PMID35882847
PMCPMC9325891
OpenAlexW4287981139

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.