Evidence map›Paper›PMID 36829498›Full record

ArticleBiology2023

Rare Variants in

Piranit Nik Kantaputra, Peeranat Jatooratthawichot, Ploy Adisornkanj, Panita Kitsadayurach, Massupa Kaewgahya, Bjorn Olsen, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, Timothy C Cox and 1 more

Open access · goldAbstract read
In one paragraph

Article in Biology, 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
0.9field-weighted citation impact, top 26% 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, 6 citations in OpenAlex.

  1. Genome scan reveals several loci associated with torus palatinus.Orthodontics & craniofacial research · 2025
    Article
  2. Genetic Variants inInternational journal of molecular sciences · 2024
    Article
  3. Heterozygous Variants inDiagnostics (Basel, Switzerland) · 2023
    Article
  4. Article
  5. Rare Genetic Variants in HumanInternational journal of molecular sciences · 2023
    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

11 authors at 6 institutions in 3 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
Peeranat JatooratthawichotCenter for Biomolecular Structure, Function and Application & School of Chemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand.ORCID 0000-0002-4646-1860
Ploy AdisornkanjCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-8096-8809
Panita KitsadayurachDental Department, Pang Sila Thong Hospital, Kamphaeng Phet 62120, Thailand.
Massupa KaewgahyaCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Bjorn OlsenDepartment of Developmental Biology, Harvard School of Dental Medicine, Harvard University, Boston, MA 02115, USA.
Atsushi OhazamaDivision of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8514, Japan.
Chumpol NgamphiwNational Biobank of Thailand, National Science and Technology Development Agency (NSTDA), Thailand Science Park, Pathum Thani 12120, Thailand.ORCID 0000-0002-8581-397X
Sissades TongsimaNational Biobank of Thailand, National Science and Technology Development Agency (NSTDA), Thailand Science Park, Pathum Thani 12120, Thailand.
Timothy C CoxDepartments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.ORCID 0000-0001-8015-5528
James R Ketudat CairnsCenter for Biomolecular Structure, Function and Application & School of Chemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand.ORCID 0000-0003-3042-1626
Chiang Mai University · THNational Science and Technology Development Agency · THSuranaree University of Technology · THHarvard University · USNiigata University · JPUniversity of Missouri–Kansas City · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLow density lipoprotein receptor-related protein 4 (LRP4; MIM 604270) modulates WNT/β-catenin signaling, through its binding of WNT ligands, and to co-receptors LRP5/6, and WNT inhibitors DKK1, SOSTDC1, and SOST. LRP4 binds to SOSTDC1 and WNT proteins establishing a negative feedback loop between Wnt/β-catenin, Bmp, and Shh signaling during the bud and cap stages of tooth development. Consistent with a critical role for this complex in developing teeth, mice lacking

methodsWe clinically, radiographically, and molecularly investigated 94 Thai patients with mesiodens.

resultsWhole exome and Sanger sequencing identified three extremely rare variants (c.4154A>G, p.Asn1385Ser; c.3940G>A, p.Gly1314Ser; and c.448G>A, p.Asp150Asn) in

conclusionsOur study implicates heterozygous genetic variants in

Indexed as

buccal exostosesroot anomaliesroot malformationstorus mandibularistorus palatinus

Identifiers

PMID36829498
PMCPMC9952772
OpenAlexW4318477494

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.