Evidence map›Paper›PMID 35583751›Full record

ArticleFEBS open bio2022

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.

Disha-Gajanan Hiregange, Andre Rivalta, Ada Yonath, Ella Zimmerman, Anat Bashan, Hagith Yonath

Open access · goldAbstract read
In one paragraph

Article in FEBS open bio, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 31% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Ribosomes: from conserved origin to functional/medical mobility and heterogeneity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025
    Review
  4. Article
  5. Review
  6. 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

6 authors at 2 institutions in 1 country.

Disha-Gajanan HiregangeThe Department of Chemical and Structural Biology, Weizmann Institute of Science, Rehovot, Israel.ORCID 0000-0002-1291-1624
Andre RivaltaThe Department of Chemical and Structural Biology, Weizmann Institute of Science, Rehovot, Israel.ORCID 0000-0001-7417-1572
Ada YonathThe Department of Chemical and Structural Biology, Weizmann Institute of Science, Rehovot, Israel.ORCID 0000-0002-1856-6964
Ella ZimmermanThe Department of Chemical and Structural Biology, Weizmann Institute of Science, Rehovot, Israel.
Anat BashanThe Department of Chemical and Structural Biology, Weizmann Institute of Science, Rehovot, Israel.ORCID 0000-0002-7705-0466
Hagith YonathSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-5636-1097
Weizmann Institute of Science · ILTel Aviv University · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine-tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA, a rare heterogeneous red-cell aplasia connected to ribosome malfunction) or failed biogenesis. Combined bioinformatical, structural, and predictive analyses of potential consequences of possibly expressed mutations in eS19, the protein product of the highly mutated RPS19, suggest that mutations in its exposed surface could alter its positioning during assembly and consequently prevent biogenesis, implying a natural selective strategy to avoid malfunctions in ribosome assembly. A search for RPS19 pseudogenes indicated > 90% sequence identity with the wild-type, hinting at its expression in cases of absent or truncated gene products.

Indexed as

Anemia, Diamond-BlackfanHumansMutationRibosomal ProteinsRibosomesRNARibosomal ProteinsRNADBAeS19genetic mutationsribosomesribosomopathiesRPS19

Identifiers

PMID35583751
PMCPMC9249338
OpenAlexW4280558057

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.