Evidence map›Paper›PMID 37761858›Full record

ArticleGenes2023

Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia.

Rina Tajima, Atsuko Okazaki, Tsuyoshi Sato, Kokoro Ozaki, Daisuke Motooka, Yasushi Okazaki, Tetsuya Yoda

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. 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
0.4field-weighted citation impact, top 36% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

7 authors at 5 institutions in 1 country.

Rina TajimaDepartment of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan.ORCID 0000-0002-6577-1581
Atsuko OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Tsuyoshi SatoDepartment of Oral and Maxillofacial Surgery, Saitama Medical University, 38 Morohongou, Moroyama-machi, Iruma-gun 350-0495, Saitama, Japan.ORCID 0000-0002-1109-196X
Kokoro OzakiLaboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Kanagawa, Japan.ORCID 0000-0001-9081-8348
Daisuke MotookaGenome Information Research Center, Research Institute for Microbial Diseases, Osaka University, Suita 565-0871, Osaka, Japan.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.ORCID 0000-0003-3241-5502
Tetsuya YodaDepartment of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan.
Juntendo University · JPTokyo Medical and Dental University · JPRIKEN Center for Integrative Medical Sciences · JPSaitama Medical University · JPThe University of Osaka · JP

Funding

Japan Society for the Promotion of Science 21H03137MEXT JPMJFS21
6 · The paper itself

Abstract

Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 patients with MMTAH and their family members when available. We also conducted RNA sequencing of normal temporal tendon (as disease region) and Achilles tendon (as control region) from commercially available pig samples. We identified 51 genes that had rare variants in patients with MMTAH and were highly expressed in the temporal tendons of pigs. Among the 51 genes, 37 genes have not been reported to be causative for human genetic diseases so far. As an implication of genetic involvement in the pathogenesis of MMTAH, 21 of these 37 genes were identified in two independent families. In particular,

Indexed as

HyperplasiaMasticatory MusclesTendonsAdultAnimalsCadherinsFemaleHumansMaleMiddle AgedPedigreeSwineWhole Genome SequencingCadherinscandidate genesmasticatory muscle tendon–aponeurosis hyperplasia (MMTAH)RNA-seqwhole genome sequencing

Identifiers

PMID37761858
PMCPMC10530891
OpenAlexW4386254944

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.