Evidence map›Paper›PMID 24240090›Full record

ReviewBiochimica et biophysica acta2014

Human diseases of the SSU processome.

Samuel B Sondalle, Susan J Baserga

Open access · greenAbstract readReview
In one paragraph

Review in Biochimica et biophysica acta, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

33 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
  2. Article
  3. Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025
    Review
  4. Article
  5. Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Development (Cambridge, England) · 2018
    Article
  11. Article
  12. The SSU processome interactome inRNA (New York, N.Y.) · 2018
    Article
  13. The complete structure of the small-subunit processome.Nature structural & molecular biology · 2017
    Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. 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

2 authors at 1 institution in 1 country.

Samuel B SondalleDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: samuel.sondalle@yale.edu.
Susan J BasergaDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: susan.baserga@yale.edu.
Yale University · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
GENETICS AND GENOMICS OF HUMAN DISEASET32HD007149 · NICHD · YALE UNIVERSITY · PI James P Noonan · 1985 to 2026
$8.2M
The Architecture and Function of RNPs Required for Ribosome BiogenesisR01GM052581 · NIGMS · YALE UNIVERSITY · PI BASERGA, SUSAN J · 2001 to 2013
$4.4M
NICHD NIH HHS T32 HD007149NIGMS NIH HHS R01 GM052581NIGMS NIH HHS R01 GM52581NIGMS NIH HHS T32 GM007205NIGMS NIH HHS TG T32GM07205
6 · The paper itself

Abstract

Ribosomes are the cellular machines responsible for protein synthesis. Ribosome biogenesis, the production of ribosomes, is a complex process involving pre-ribosomal RNA (rRNA) cleavages and modifications as well as ribosomal protein assembly around the rRNAs to create the functional ribosome. The small subunit (SSU) processome is a large ribonucleoprotein (RNP) in eukaryotes required for the assembly of the SSU of the ribosome as well as for the maturation of the 18S rRNA. Despite the fundamental nature of the SSU processome to the survival of any eukaryotic cell, mutations in SSU processome components have been implicated in human diseases. Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). Diseases with suggestive, though inconclusive, evidence for the involvement of the SSU processome in their pathogenesis are also discussed, including a novel putative ribosomopathy. This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease.

Indexed as

Cell NucleolusDiseaseFetal Growth RetardationHumansPsychomotor DisordersRibonucleoproteinsRibosomal ProteinsRibosome Subunits, SmallRNA PrecursorsRNA, Ribosomal, 18SRibonucleoproteinsRibosomal ProteinsRNA PrecursorsRNA, Ribosomal, 18SEMG1hUTP4/CirhinRibosomopathySSU processomeUTP14

Identifiers

PMID24240090
PMCPMC4058823
OpenAlexW2009679733

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.