Evidence map›Paper›PMID 21436445›Full record

ArticleScience (New York, N.Y.)2011

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Salil A Lachke, Fowzan S Alkuraya, Stephen C Kneeland, Takbum Ohn, Anton Aboukhalil, Gareth R Howell, Irfan Saadi, Resy Cavallesco, Yingzi Yue, Anne C-H Tsai and 14 more

Abstract read
In one paragraph

Article in Science (New York, N.Y.), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
143citing papers in PubMed, 4 pooled it
8.0field-weighted citation impact, top 2% 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

143 citing papers in PubMed, 4 syntheses or guidelines pooled it, 207 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026
    Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. DAMPs Drive Fibroinflammatory Changes in the Glaucomatous ONH.Investigative ophthalmology & visual science · 2024
    Article
  17. Through theGenes · 2024
    Review
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 5 institutions in 1 country.

Salil A LachkeDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Fowzan S Alkuraya
Stephen C Kneeland
Takbum Ohn
Anton Aboukhalil
Gareth R Howell
Irfan Saadi
Resy Cavallesco
Yingzi Yue
Anne C-H Tsai
K Saidas Nair
Mihai I Cosma
Richard S Smith
Emily Hodges
Suad M Alfadhli
Amal Al-Hajeri
Hanan E Shamseldin
Abdulmutalib Behbehani
Gregory J Hannon
Martha L Bulyk
Arlene V Drack
Paul J Anderson
Simon W M John
Richard L Maas
Brigham and Women's Hospital · USHarvard University · USJackson Laboratory · USHoward Hughes Medical Institute · USUniversity of Iowa · US

Funding

RAPID GENE DISCOVERYP01GM061354 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2001 to 2019
$24.3M
Factors Determining Intraocular Pressure and Glaucoma SusceptibilityR01EY011721 · NEI · JACKSON LABORATORY · PI JOHN, SIMON W · 2002 to 2018
$12.4M
The Role of Tdrd7 in Mammalian Lens DevelopmentR01EY010123 · NEI · BRIGHAM AND WOMEN'S HOSPITAL · PI MAAS, RICHARD L · 1993 to 2016
$5.1M
Discovering Human Birth Defect Genes from Chromosomal RearrangementsR01HD060050 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI MAAS, RICHARD L · 2009 to 2013
$2.0M
Howard Hughes Medical InstituteNEI NIH HHS R01 EY010123NEI NIH HHS R01 EY011721NEI NIH HHS R01 EY10123NEI NIH HHS R01 EY11721NICHD NIH HHS R01 HD060050NIGMS NIH HHS P01 GM061354
6 · The paper itself

Abstract

The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. TDRD7 is a Tudor domain RNA binding protein that is expressed in lens fiber cells in distinct TDRD7-RGs that interact with STAU1-ribonucleoproteins (RNPs). TDRD7 coimmunoprecipitates with specific lens messenger RNAs (mRNAs) and is required for the posttranscriptional control of mRNAs that are critical to normal lens development and to RG function. These findings demonstrate a role for RGs in vertebrate organogenesis.

Indexed as

Gene Expression Regulation, DevelopmentalAnimalsCataractCell LineChick EmbryoCrystallinsCytoplasmic GranulesEmbryonic DevelopmentFemaleGene Knockdown TechniquesGlaucomaHumansHypospadiasLens, CrystallineMaleMiceCrystallinsRibonucleoproteinsRNA-Binding ProteinsRNA, MessengerStau1 protein, mouseTdrd7 protein, humanTDRD7 protein, mouse

Identifiers

PMID21436445
PMCPMC3279122
OpenAlexW2036760181

What OpenQuestion holds

Textmetadata
LicenceTDM
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.