Evidence map›Paper›PMID 37216524›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2023

Germline

Florian Erger, Rajindra P Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, Maxence Noel, Lukas Muerner, Andrea Wenzel and 16 more

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

16 citing papers in PubMed, 16 citations in OpenAlex.

  1. Protein O-Glycosylation Shapes Lymphatic Endothelia and Lymph Node Macrophage Populations.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Mucin-typebioRxiv : the preprint server for biology · 2025
    Article
  7. Review
  8. Neuromuscular Defects in aBiomolecules · 2025
    Article
  9. Article
  10. O-GalNAc glycans are enriched in neuronal tracts and regulate nodes of Ranvier.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  11. C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.Journal of inherited metabolic disease · 2025
    Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. 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

26 authors at 8 institutions in 5 countries.

Florian ErgerInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-2768-1702
Rajindra P AryalDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.
Björn ReuschInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Yasuyuki MatsumotoDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.ORCID 0000-0003-2606-2616
Robert MeyerInstitute for Human Genetics and Genomic Medicine, Medical Faculty, Rheinisch-Westfälische Technische Hochschule Aachen University, 52074 Aachen, Germany.
Junwei ZengDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.
Cordula KnoppInstitute for Human Genetics and Genomic Medicine, Medical Faculty, Rheinisch-Westfälische Technische Hochschule Aachen University, 52074 Aachen, Germany.
Maxence NoelDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.
Lukas MuernerDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.
Andrea WenzelInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Stefan KohlChildren's and Adolescents' Hospital, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50937 Cologne, Germany.
Nikolai TschernosterInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Gunter RapplCenter for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
Isabelle RouvetCentre de Biotechnologie Cellulaire and CBC BioTec Biobank, Centre de Ressources Biologiques, Hospices Civils de Lyon, 69229 Lyon, France.
Jutta Schröder-BraunsteinInstitute of Immunology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Felix S SeibertMedical Department I, University Hospital Marien Hospital Herne, Ruhr-University Bochum, 44625 Herne, Germany.
Holger ThieleCologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
Martin G HäuslerDivision of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, Rheinisch-Westfälische Technische Hochschule Aachen University, 52074 Aachen, Germany.
Lutz T WeberChildren's and Adolescents' Hospital, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0003-4116-598X
Maike Büttner-HeroldDepartment of Nephropathology, Institute of Pathology, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
Miriam ElbrachtInstitute for Human Genetics and Genomic Medicine, Medical Faculty, Rheinisch-Westfälische Technische Hochschule Aachen University, 52074 Aachen, Germany.
Sandra F CummingsDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.
Janine AltmüllerCenter for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
Sandra HabbigChildren's and Adolescents' Hospital, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50937 Cologne, Germany.
Richard D CummingsDivision of Surgical Sciences, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215.ORCID 0000-0002-8918-5034
Bodo B BeckInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0003-0495-7670
University of Cologne · DEBeth Israel Deaconess Medical Center · USRWTH Aachen University · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHeidelberg University · DEHospices Civils de Lyon · FRUniversitätsklinik Marien Hospital Herne · DEUniversity of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein O-glycosylation. The patients have a decreased activity of T-synthase (

Indexed as

Acute Kidney InjuryMolecular ChaperonesGerm CellsHumansImmunoglobulin AMaleMutationPolysaccharidesC1GALT1C1 protein, humangalactosyl-deficient IgA1Immunoglobulin AMolecular ChaperonesPolysaccharidesC1GALT1C1CosmcCOSMC-CDGO-glycosylationTn-antigen

Identifiers

PMID37216524
PMCPMC10235935
OpenAlexW4377289480

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.