Evidence map›Paper›PMID 40890459›Full record

ReviewJournal of human genetics2025

Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.

Tadahisa Mikami, Shuji Mizumoto, Hiroshi Kitagawa, Shuhei Yamada

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

4 authors.

Tadahisa Mikami *Laboratory of Biochemistry, Kobe Pharmaceutical University, Kobe, Japan.
Shuji Mizumoto *Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.ORCID http://orcid.org/0000-0002-4641-1505
Hiroshi KitagawaLaboratory of Biochemistry, Kobe Pharmaceutical University, Kobe, Japan. kitagawa@kobepharma-u.ac.jp.ORCID http://orcid.org/0000-0002-9307-7079
Shuhei YamadaDepartment of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan. shuheiy@meijo-u.ac.jp.

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 23K06142MEXT | Japan Society for the Promotion of Science (JSPS) 24K02183MEXT | Japan Society for the Promotion of Science (JSPS) 24K09372MEXT | Japan Society for the Promotion of Science (JSPS) 24K09805
6 · The paper itself

Abstract

Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans that play indispensable roles in multiple physiological processes, including cell proliferation, cell adhesion, development, neuronal guidance, and cartilage formation. Depletion of CS/DS caused by biosynthetic enzyme loss of function impairs these processes and results in embryonic lethality. However, some individuals with mutant enzymes survive and exhibit severe phenotypes. These rare hereditary diseases have been discovered and characterized in recent decades because of marked advances in next-generation sequencing technology. In this review, CS/DS-related inherited diseases caused by aberrations in both CS/DS backbone synthesis, as well as their sulfation and/or epimerization, are comprehensively summarized and their pathogenesis discussed.

Identifiers

PMID40890459

What Socratic holds

Textmetadata
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 Socratic graph.