Evidence map›Paper›PMID 37046432›Full record

ArticleDiagnostics (Basel, Switzerland)2023

Heterozygous Variants in

Piranit Nik Kantaputra, Kanich Tripuwabhrut, Robert P Anthonappa, Kanoknart Chintakanon, Chumpol Ngamphiw, Ploy Adisornkanj, Nop Porntrakulseree, Bjorn Olsen, Worrachet Intachai, Raoul C Hennekam and 2 more

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

Article in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Genetic Variants inInternational journal of molecular sciences · 2024
    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

12 authors at 6 institutions in 4 countries.

Piranit Nik KantaputraCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-9841-0881
Kanich TripuwabhrutDivision of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-1890-369X
Robert P AnthonappaDepartment of Pediatric Dentistry, University of Western Australia Dental School, Nedlands, WA 6009, Australia.
Kanoknart ChintakanonDivision of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Chumpol NgamphiwNational Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang 12120, Thailand.
Ploy AdisornkanjCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Nop PorntrakulsereeDental Department, Lumphun Hospital, Lumphum 51000, Thailand.
Bjorn OlsenDepartment of Developmental Biology, Harvard School of Dental Medicine, Harvard University, Boston, MA 02115, USA.
Worrachet IntachaiCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-3543-8136
Raoul C HennekamDepartment of Pediatrics, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Alexandre R VieiraDepartment of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.ORCID 0000-0003-3392-6881
Sissades TongsimaNational Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang 12120, Thailand.
Chiang Mai University · THNational Science and Technology Development Agency · THAmsterdam UMC Location University of Amsterdam · NLHarvard University · USThe University of Western Australia · AUUniversity of Pittsburgh · US

Funding

Health Systems Research Institute 64-123
6 · The paper itself

Abstract

backgroundSupernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic etiology of extra tooth phenotypes, including mesiodens and isolated supernumerary teeth.

methodsOral and radiographic examinations and whole-exome sequencing were performed on every patient in our cohort of 122 patients, including 27 patients with isolated supernumerary teeth and 94 patients with mesiodens. A patient who had multiple supernumerary teeth also had odontomas.

resultsWe identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in

conclusionsBiallelic variants in

Indexed as

dental anomaliesextra teethFraser syndromemesiodensmesiodentessupernumerary toothtooth formation

Identifiers

PMID37046432
PMCPMC10093539
OpenAlexW4360615114

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.