Evidence map›Paper›PMID 36393834›Full record

ArticleFrontiers in cell and developmental biology2022

COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.

Zhi-Jie Xia, Sonal Mahajan, Earnest James Paul Daniel, Bobby G Ng, Mayank Saraswat, Alexandre Rosa Campos, Rabi Murad, Miao He, Hudson H Freeze

Open access · goldAbstract read
PubMed Full text at PMC Publisher
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 51% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

9 authors at 3 institutions in 1 country.

Zhi-Jie XiaHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Sonal MahajanHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Earnest James Paul DanielDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Bobby G NgHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Mayank SaraswatImmunity and Pathogenesis Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Alexandre Rosa CamposProteomics Facility, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Rabi MuradBioinformatics Core, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Miao HeDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Discovery Institute · USSanford Burnham Prebys Medical Discovery Institute · USChildren's Hospital of Philadelphia · US

Funding

New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
NIDDK NIH HHS R01 DK099551
6 · The paper itself

Abstract

Saul-Wilson syndrome is a rare skeletal dysplasia caused by a heterozygous mutation in COG4 (p.G516R). Our previous study showed that this mutation affected glycosylation of proteoglycans and disturbed chondrocyte elongation and intercalation in zebrafish embryos expressing the COG4

Indexed as

3D cultureCOG4mass-spectrometryN-glycanSaul-Wilson Syndromesecretome

Identifiers

PMID36393834
PMCPMC9649697
OpenAlexW4307449002

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.