Evidence map›Paper›PMID 37629084›Full record

ReviewInternational journal of molecular sciences2023

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.

Shoko Onodera, Toshifumi Azuma

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2023. 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
0.9field-weighted citation impact, top 25% 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, 6 citations in OpenAlex.

  1. Review
  2. Primary cilia gene defects in BMSCs induce idiopathic scoliosis.Cellular and molecular life sciences : CMLS · 2025
    Article
  3. Article
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

2 authors at 1 institution in 1 country.

Shoko OnoderaDepartment of Biochemistry, Tokyo Dental College, 2-9-18 Kanda Misaki-cho, Chiyoda-ku, Tokyo 101-0061, Japan.ORCID 0000-0003-0673-3400
Toshifumi AzumaDepartment of Biochemistry, Tokyo Dental College, 2-9-18 Kanda Misaki-cho, Chiyoda-ku, Tokyo 101-0061, Japan.
Tokyo Dental College · JP

Funding

Japan Society for the Promotion of Science 21H03146Japan Society for the Promotion of Science 21K10103
6 · The paper itself

Abstract

The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling. In this review, we first present the phenotype of Gorlin syndrome and the relationship between genotype and phenotype in bone and craniofacial tissues, including the causative gene as well as other Hh-related genes. Next, the importance of new diagnostic methods using next-generation sequencing and multiple gene panels will be discussed. We summarize Hh-related genetic disorders, including cilia disease, and the genetics of Hh-related bone diseases.

Indexed as

Basal Cell Nevus SyndromeBone DiseasesBone and BonesCarcinogenesisHedgehog ProteinsHumansMutationHedgehog Proteinsbone anomalycraniofacial developmentgene panelgenetic diagnosisGorlin syndromehedgehog signaling

Identifiers

PMID37629084
PMCPMC10454035
OpenAlexW4385949975

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.