Evidence map›Paper›PMID 28272532›Full record

ArticleEuropean journal of human genetics : EJHG2017

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard, Orly Elpeleg

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed
4.8field-weighted citation impact, top 4% 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

57 citing papers in PubMed, 85 citations in OpenAlex.

  1. Article
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  8. Review
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  10. The life and times of a tRNA.RNA (New York, N.Y.) · 2023
    Review
  11. Article
  12. Article
  13. Conservation and Diversification of tRNA tInternational journal of molecular sciences · 2022
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Galloway-Mowat Syndrome Type 3 Caused byFrontiers in pediatrics · 2022
    Article
  19. Article
  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

10 authors at 4 institutions in 3 countries.

Simon EdvardsonMonique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Laurence PrunettiDepartment of Microbiology and Cell Science, Institute for Food and Agricultural Sciences and Genetic Institute, University of Florida, Gainesville, FL, USA.
Aiman ArrafHebrew University School of Medicine, Jerusalem, Israel.
Drago HaasDepartment of Microbiology and Cell Science, Institute for Food and Agricultural Sciences and Genetic Institute, University of Florida, Gainesville, FL, USA.
Jo Marie BacusmoDepartment of Microbiology and Cell Science, Institute for Food and Agricultural Sciences and Genetic Institute, University of Florida, Gainesville, FL, USA.
Jennifer F HuCenter for Environmental Health Sciences, Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.
Asas Ta-ShmaMonique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Peter C DedonCenter for Environmental Health Sciences, Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.
Valérie de Crécy-LagardDepartment of Microbiology and Cell Science, Institute for Food and Agricultural Sciences and Genetic Institute, University of Florida, Gainesville, FL, USA.
Orly ElpelegMonique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
University of Florida · USCenter for Environmental Health · USHadassah Medical Center · ILHebrew University of Jerusalem · IL

Funding

Synthesis and function of Queuosine in BacteriaR01GM070641 · NIGMS · UNIVERSITY OF FLORIDA · PI DE CRECY-LAGARD, VALERIE A · 2006 to 2023
$5.3M
NIGMS NIH HHS R01 GM070641
6 · The paper itself

Abstract

Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N

Indexed as

MutationAdenosineAnion Exchange Protein 1, ErythrocyteChildDevelopmental DisabilitiesExomeFemaleGenetic Complementation TestHomozygoteHumansKidney DiseasesMagnesiumMaleMetabolism, Inborn ErrorsRNA Processing, Post-TranscriptionalRNA, TransferAdenosineAnion Exchange Protein 1, ErythrocyteMagnesiumN(6)-(N-threonylcarbonyl)adenosineRNA, TransferSLC4A1 protein, human

Identifiers

PMID28272532
PMCPMC5437908
OpenAlexW2592534906

What OpenQuestion holds

Textmetadata
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.