Evidence map›Paper›PMID 41673016›Full record

ArticleNature communications2026

A missense variant in ASCL5 leads to lobodontia.

Thanakorn Theerapanon, Narin Intarak, Khanti Rattanapornsompong, Sermporn Thaweesapphithak, Kanokwan Sriwattanapong, Sasiprapa Prommanee, Sirinya Kulvitit, Tomislav Skrinjaric, Lakshman Samaranayake, Monnat Pongpanich and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

18 authors.

Thanakorn TheerapanonInterdisciplinary Program of Biomedical Sciences, Graduate School, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0001-6727-862X
Narin IntarakCenter of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Khanti RattanapornsompongCenter of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Sermporn ThaweesapphithakCenter of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Kanokwan SriwattanapongCenter of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Sasiprapa PrommaneeClinical Research Center, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Sirinya KulvititDepartment of Operative Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Tomislav SkrinjaricDepartment of Pediatric and Preventive Dentistry, School of Dental Medicine, University of Zagreb, Zagreb, Croatia.
Lakshman SamaranayakeDepartment of Periodontology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Monnat PongpanichDepartment of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-3228-3351
Patra YeetongDivision of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.
Nardtiwa ChaivoravitsakulDiagnostic Imaging Unit, Small Animal Teaching Hospital, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, Thailand.
Nicole Sirisopit MehlDepartment of Surgery, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, Thailand.
Adjima AssawapitaksakulCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Chalurmpon SrichomthongCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Wanna ChetruengchaiCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Thantrira PorntaveetusCenter of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. thantrira.p@chula.ac.th.ORCID 0000-0003-0145-9801
Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-1856-0589

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lobodontia, a rare dental anomaly marked by supernumerary cusps and a single pyramid-shaped molar root, has been previously linked to a variant in the CACNA1S gene without definitive evidence. This study investigates 17 patients with lobodontia from Thai and Croatian families. Microsatellite genotyping defines a 15.4 Mbp critical region encompassing CACNA1S and ASCL5 among Thai families. While genome sequencing confirms the CACNA1S variant only in the Thai patients, all 17 patients harbor the ASCL5 c.274 G > A (p.Glu92Lys) variant, which is absent in 12 unaffected members. Functional studies using CRISPR/Cas9-generated Ascl5 knock-in mutant mice demonstrate the dental anomalies resembling lobodontia in Ascl5

Indexed as

Basic Helix-Loop-Helix ProteinsMutation, MissenseAnimalsCalcium ChannelsFemaleGene Knock-In TechniquesHomeodomain ProteinsHumansMaleMicePedigreeTranscription FactorsBasic Helix-Loop-Helix ProteinsCalcium ChannelsDistal-less homeobox proteinsHomeodomain ProteinsTranscription Factors

Identifiers

PMID41673016
PMCPMC13004952

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.