Evidence map›Paper›PMID 36467423›Full record

ArticleFrontiers in cell and developmental biology2022

Somatic mosaicism in

Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg and 6 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cell and developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

9 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Cohesin regulation and roles in chromosome structure and function.Current opinion in genetics & development · 2024
    Review
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

16 authors at 7 institutions in 1 country.

Julia SchmidtInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Steffi Dreha-KulaczewskiDepartment of Pediatics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
Maria-Patapia ZafeiriouInstitute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.
Marie-Kristin SchreiberInstitute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.
Bernd WilkenDepartment of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
Rudolf FunkeDepartment of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
Christiane M NeuhoferInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Janine AltmüllerCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
Peter NürnbergCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
Saskia BiskupCeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
Yun LiInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Wolfram Hubertus ZimmermannInstitute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.
Silke KaulfußInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Gökhan YigitInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Bernd WollnikInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Universitätsmedizin Göttingen · DEUniversity of Göttingen · DEKlinikum Kassel · DEUniversity of Cologne · DECeGaT (Germany) · DEHelmholtz Zentrum München · DEUniversity Hospital Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

STAG2 is a component of the large, evolutionarily highly conserved cohesin complex, which has been linked to various cellular processes like genome organization, DNA replication, gene expression, heterochromatin formation, sister chromatid cohesion, and DNA repair. A wide spectrum of germline variants in genes encoding subunits or regulators of the cohesin complex have previously been identified to cause distinct but phenotypically overlapping multisystem developmental disorders belonging to the group of cohesinopathies. Pathogenic variants in

Indexed as

bioengineered neuronal organoidscohesinopathiesmosaic disordersSTAG2supernumerary nipples

Identifiers

PMID36467423
PMCPMC9710855
OpenAlexW4309314702

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.