Evidence map›Paper›PMID 36584300›Full record

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

Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.

Tiffany Y K Au, Raymond K H Yip, Sarah L Wynn, Tiong Y Tan, Alex Fu, Yu Hong Geng, Irene Y Y Szeto, Ben Niu, Kevin Y Yip, Martin C H Cheung and 2 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 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.3field-weighted citation impact, top 13% 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

10 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. 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

12 authors at 2 institutions in 2 countries.

Tiffany Y K AuSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0002-4131-1951
Raymond K H YipSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0003-2698-7686
Sarah L WynnSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0001-6531-8181
Tiong Y TanSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0001-8455-7778
Alex FuDepartment of Computer Science and Engineering, The Chinese University of Hong Kong, New Territories, Shatin, Hong Kong SAR, China.ORCID 0000-0001-9835-5018
Yu Hong GengSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0002-0712-0641
Irene Y Y SzetoSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0002-3925-1136
Ben NiuSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.
Kevin Y YipDepartment of Computer Science and Engineering, The Chinese University of Hong Kong, New Territories, Shatin, Hong Kong SAR, China.ORCID 0000-0001-5516-9944
Martin C H CheungSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0002-3471-8534
Robin Lovell-BadgeFrancis Crick Institute, London NW1 1AT, UK.ORCID 0000-0001-9364-4179
Kathryn S E CheahSchool of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.ORCID 0000-0003-0802-8799
Chinese University of Hong Kong · HKThe Francis Crick Institute · GB

Funding

Medical Research Council MC_U117562207
6 · The paper itself

Abstract

Haploinsufficiency for SOX9, the master chondrogenesis transcription factor, can underlie campomelic dysplasia (CD), an autosomal dominant skeletal malformation syndrome, because heterozygous

Indexed as

HedgehogsWnt Signaling PathwayAnimalsCampomelic DysplasiaCell DifferentiationChondrocytesDisorders of Sex DevelopmentGene Expression RegulationHumansMiceProteinsSOX9 Transcription FactorProteinsSOX9 protein, humanSOX9 Transcription Factorcampomelic dysplasiaosteoblast differentiationskeletal disordersSOX9WNT and HH signaling

Identifiers

PMID36584300
PMCPMC9910594
OpenAlexW4313315465

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.